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Top 10 diseases (for # mutations)
Top 10 diseases Muts Prots Ints
Epilepsy 955 118 3049
Hemophilia 606 2 17
Mucopolysaccharidosis 537 12 44
Cardiomyopathy 483 51 2617
Retinitis pigmentosa 399 70 1629
Deafness 392 94 2281
Long QT syndrome 370 16 551
Charcot-Marie-Tooth disease 330 27 860
Marfan syndrome 320 1 18
Glycogen storage disease 293 17 157
Top 10 proteins (for # mutations)
Top 10 proteins Uniprot AC Muts Diseases Ints
F8 P00451 468 1 16
SCN1A P35498 381 3 6
FBN1 P35555 352 6 20
PAH P00439 206 2 4
MYH7 P12883 197 4 21
ABCA4 P78363 190 4 5
GJB1 P08034 188 2 48
ATP7B P35670 181 1 7
GLA P06280 180 1 9
GBA1 P04062 162 1 11
Diseases with potential edgetic perturbations
DiseasePhenotypeRelevant proteins
3-methylglutaconic aciduria 3-methylglutaconic aciduria 7A (MGCA7A) [MIM:619835] CLPB
3-methylglutaconic aciduria 7B (MGCA7B) [MIM:616271] CLPB
3M syndrome 3M syndrome 1 (3M1) [MIM:273750] CUL7
3MC syndrome 3MC syndrome 2 (3MC2) [MIM:265050] COLEC11
ADULT syndrome Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285] TP63
ARTS syndrome ARTS syndrome (ARTS) [MIM:301835] PRPS1
Achondrogenesis Achondrogenesis 2 (ACG2) [MIM:200610] COL2A1
Achondroplasia Achondroplasia (ACH) [MIM:100800] FGFR3
Achondroplasia, severe, with developmental delay and acanthosis nigricans (SADDAN) [MIM:616482] FGFR3
Achromatopsia Achromatopsia 5 (ACHM5) [MIM:613093] PDE6C
Acne Acne inversa, familial, 1 (ACNINV1) [MIM:142690] NCSTN
Acrodysostosis Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] PRKAR1A
Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613] PDE4D
Acrofacial dysostosis, Cincinnati type (AFDCIN) [MIM:616462] Acrofacial dysostosis, Cincinnati type (AFDCIN) [MIM:616462] POLR1A
Acromesomelic dysplasia Acromesomelic dysplasia 1 (AMD1) [MIM:602875] NPR2
Acromesomelic dysplasia 2B (AMD2B) [MIM:228900] GDF5
Acyl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM
Adrenal hyperplasia ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080] GNAS
Adrenal hypoplasia, congenital (AHC) [MIM:300200] NR0B1
Adrenal insufficiency, NR5A1-related Adrenal insufficiency, NR5A1-related (AINR) [MIM:612964] NR5A1
Afibrinogenemia Congenital afibrinogenemia (CAFBN) [MIM:202400] FGA, FGG, FGB
Agammaglobulinemia Agammaglobulinemia 2, autosomal recessive (AGM2) [MIM:613500] IGLL1
Agammaglobulinemia 6, autosomal recessive (AGM6) [MIM:612692] CD79B
X-linked agammaglobulinemia (XLA) [MIM:300755] BTK
Age-related macular degeneration Macular degeneration, age-related, 15 (ARMD15) [MIM:615591] C9
Macular degeneration, age-related, 3 (ARMD3) [MIM:608895] FBLN5
Macular degeneration, age-related, 4 (ARMD4) [MIM:610698] CFH
Macular degeneration, age-related, 9 (ARMD9) [MIM:611378] C3
Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B
Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333] RNASEH2A
Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMHD1
Aicardi-Goutieres syndrome 6 (AGS6) [MIM:615010] ADAR
Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846] IFIH1
Alagille syndrome Alagille syndrome 1 (ALGS1) [MIM:118450] JAG1
Alazami-Yuan syndrome Alazami-Yuan syndrome (ALYUS) [MIM:617126] TAF6
Alexander disease Alexander disease (ALXDRD) [MIM:203450] GFAP
Alpha-methylacetoacetic aciduria 3-ketothiolase deficiency (3KTD) [MIM:203750] ACAT1
Alpha-thalassemia/impaired intellectual development syndrome, X-linked Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] ATRX
Alzheimer disease Alzheimer disease 1 (AD1) [MIM:104300] APP
Alzheimer disease 2 (AD2) [MIM:104310] APOE
Alzheimer disease mitochondrial (AD-MT) [MIM:502500] MT-ND2, MT-ND1
Alzheimer disease 4 (AD4) [MIM:606889] Alzheimer disease 4 (AD4) [MIM:606889] PSEN2
Amelogenesis imperfecta Amelogenesis imperfecta 1H (AI1H) [MIM:616221] ITGB6
Amyloidosis Amyloidosis, hereditary systemic 4, Finnish type (AMYLD4) [MIM:105120] GSN
Amyloidosis, hereditary systemic 6 (AMYLD6) [MIM:620659] B2M
Amyloidosis, hereditary systemic 3 (AMYLD3) [MIM:620657] Amyloidosis, hereditary systemic 3 (AMYLD3) [MIM:620657] APOA1
Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP
Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] PFN1
Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515] ERBB4
Amyotrophic lateral sclerosis 23 (ALS23) [MIM:617839] ANXA11
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS
Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG
Amyotrophic lateral sclerosis (ALS) [MIM:105400] Amyotrophic lateral sclerosis (ALS) [MIM:105400] DCTN1
Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] HNRNPA1
Aniridia Aniridia 1 (AN1) [MIM:106210] PAX6
Antley-Bixler syndrome Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410] FGFR2
Aortic aneurysm Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] ACTA2
Apert syndrome Apert syndrome (APRS) [MIM:101200] FGFR2
Arrhythmogenic right ventricular dysplasia Arrhythmogenic right ventricular dysplasia, familial, 13 (ARVD13) [MIM:615616] CTNNA3
Arthrogryposis Arthrogryposis, distal, 11 (DA11) [MIM:620019] MET
Asplenia Asplenia, isolated congenital (ICAS) [MIM:271400] RPSA
Ataxia telangiectasia Ataxia-telangiectasia-like disorder 1 (ATLD1) [MIM:604391] MRE11
Ataxia telangiectasia (AT) [MIM:208900] Ataxia telangiectasia (AT) [MIM:208900] ATM
Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120] Atrial fibrillation, familial, 16 (ATFB16) [MIM:613120] SCN3B
Atrial septal defect Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377] SCN1B
Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378] SCN2B
Atrial fibrillation, familial, 3 (ATFB3) [MIM:607554] KCNQ1
Atrial fibrillation, familial, 9 (ATFB9) [MIM:613980] KCNJ2
Atrial septal defect 2 (ASD2) [MIM:607941] GATA4
Atrial standstill Atrial standstill 2 (ATRST2) [MIM:615745] NPPA
Auriculocondylar syndrome Auriculocondylar syndrome 1 (ARCND1) [MIM:602483] GNAI3
Autism Diaphragmatic hernia 5, X-linked (DIH5) [MIM:306950] PLS3
Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features (EPILX2) [MIM:301091] GABRA3
Autoimmune disease, multisystem, infantile-onset, Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] STAT3
Autoimmune disease, multisystem, infantile-onset, 2 (ADMIO2) [MIM:617006] ZAP70
Coffin-Siris syndrome 3 (CSS3) [MIM:614608] SMARCB1
Coffin-Siris syndrome 4 (CSS4) [MIM:614609] SMARCA4
Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS
Autoimmune polyendocrine syndrome Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE
Autoinflammation, antibody deficiency, and immune dysregulation Autoinflammation, antibody deficiency, and immune dysregulation (APLAID) [MIM:614878] PLCG2
Autoinflammation, immune dysregulation, and eosinophilia Autoinflammation, immune dysregulation, and eosinophilia (AIIDE) [MIM:618999] JAK1
Axenfeld-Rieger syndrome Axenfeld-Rieger syndrome 1 (RIEG1) [MIM:180500] PITX2
Baraitser-Winter syndrome Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] ACTB
Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1
Bardet-Biedl syndrome Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] BBS1
Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] BBS4
Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] MKKS
Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] BBS7
Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12
Basal cell nevus syndrome Becker nevus syndrome (BNS) [MIM:604919] ACTB
Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] NRAS
Bernard-Soulier syndrome Bernard-Soulier syndrome (BSS) [MIM:231200] GP1BB
Bethlem myopathy Inclusion body myopathy and brain white matter abnormalities (IBMWMA) [MIM:619733] ANXA11
Myopathy, scapulohumeroperoneal (SHPM) [MIM:616852] ACTA1
Visceral myopathy 1 (VSCM1) [MIM:155310] ACTG2
Bladder cancer Bladder cancer (BLC) [MIM:109800] FGFR3
Bleeding disorder Bleeding disorder, platelet-type, 11 (BDPLT11) [MIM:614201] GP6
Bleeding disorder, platelet-type, 13 (BDPLT13) [MIM:614009] TBXA2R
Bleeding disorder, platelet-type, 16 (BDPLT16) [MIM:187800] ITGA2B
Bleeding disorder, platelet-type, 24 (BDPLT24) [MIM:619271] ITGB3
Bleeding disorder, platelet-type, 8 (BDPLT8) [MIM:609821] P2RY12
Blepharocheilodontic syndrome Blepharocheilodontic syndrome 1 (BCDS1) [MIM:119580] CDH1
Blepharophimosis-impaired intellectual development syndrome Blepharophimosis-impaired intellectual development syndrome (BIS) [MIM:619293] SMARCA2
Bosch-Boonstra-Schaaf optic atrophy syndrome Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] NR2F1
Brachycephaly, trichomegaly, and developmental delay Brachycephaly, trichomegaly, and developmental delay (BTDD) [MIM:617412] RPS23
Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) [MIM:617744] NFE2L2
Brachydactyly Brachydactyly A1, C (BDA1C) [MIM:615072] GDF5
Brachydactyly A2 (BDA2) [MIM:112600] GDF5
Brachydactyly C (BDC) [MIM:113100] GDF5
Brachydactyly E2 (BDE2) [MIM:613382] PTHLH
Brachyolmia Brachyolmia 3 (BCYM3) [MIM:113500] TRPV4
Branchiootic syndrome Branchiootic syndrome 3 (BOS3) [MIM:608389] SIX1
Breast cancer Breast cancer (BC) [MIM:114480] BRCA2, BRCA1, PIK3CA, CHEK2
Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1
Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399] RAD51C
Bronchiectasis Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM:613021] SCNN1A
Brugada syndrome Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A
Bryant-Li-Bhoj neurodevelopmental syndrome Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] H3-3B
Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] H3-3B
Buratti-Harel syndrome Buratti-Harel syndrome (BURHAS) [MIM:619314] SIAH1
CIMDAG syndrome CIMDAG syndrome (CIMDAG) [MIM:619273] VPS4A
CLAPO syndrome CLAPO syndrome (CLAPO) [MIM:613089] PIK3CA
CLOVE syndrome Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] PIK3CA
Camptodactyly tall stature and hearing loss syndrome Camptodactyly, tall stature, and hearing loss syndrome (CATSHLS) [MIM:610474] FGFR3
Cardiospondylocarpofacial syndrome (CSCF) [MIM:157800] MAP3K7
Camurati-Engelmann disease Camurati-Engelmann disease (CAEND) [MIM:131300] TGFB1
Candidiasis Candidiasis, familial, 6 (CANDF6) [MIM:613956] IL17F
Cardiac valvular defect, developmental Cardiac, facial, and digital anomalies with developmental delay (CAFDADD) [MIM:618164] TRAF7
Cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF
Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] KRAS
Cardiofaciocutaneous syndrome 3 (CFC3) [MIM:615279] MAP2K1
Cardiomyopathy Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] LMNA
Cardiomyopathy, dilated, 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158] ACTN2
Cardiomyopathy, dilated, 1D (CMD1D) [MIM:601494] TNNT2
Cardiomyopathy, dilated, 1FF (CMD1FF) [MIM:613286] TNNI3
Cardiomyopathy, dilated, 1GG (CMD1GG) [MIM:613642] SDHA
Cardiomyopathy, dilated, 1II (CMD1II) [MIM:615184] CRYAB
Cardiomyopathy, dilated, 1NN (CMD1NN) [MIM:615916] RAF1
Cardiomyopathy, dilated, 1R (CMD1R) [MIM:613424] ACTC1
Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] MYH7
Cardiomyopathy, dilated, 1W (CMD1W) [MIM:611407] VCL
Cardiomyopathy, dilated, 1Y (CMD1Y) [MIM:611878] TPM1
Cardiomyopathy, dilated, 1Z (CMD1Z) [MIM:611879] TNNC1
Cardiomyopathy, dilated, 2H (CMD2H) [MIM:620203] GET3
Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112] LMNA
Cardiomyopathy, familial hypertrophic, 10 (CMH10) [MIM:608758] MYL2
Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098] ACTC1
Cardiomyopathy, familial hypertrophic, 13 (CMH13) [MIM:613243] TNNC1
Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction (CMH23) [MIM:612158] ACTN2
Cardiomyopathy, familial hypertrophic, 3 (CMH3) [MIM:115196] TPM1
Cardiomyopathy, familial hypertrophic, 6 (CMH6) [MIM:600858] PRKAG2
Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] TNNI3
Cardiomyopathy, familial hypertrophic, 8 (CMH8) [MIM:608751] MYL3
Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] TNNI3
Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] MYH7
Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] MYBPC3
Carney complex Carney complex 1 (CNC1) [MIM:160980] PRKAR1A
Cataract Cataract 23, multiple types (CTRCT23) [MIM:610425] CRYBA4
Cataract 30, multiple types (CTRCT30) [MIM:116300] VIM
Cataract 31, multiple types (CTRCT31) [MIM:605387] CHMP4B
Cataract 6, multiple types (CTRCT6) [MIM:116600] EPHA2
Cataract 17, multiple types (CTRCT17) [MIM:611544] Cataract 17, multiple types (CTRCT17) [MIM:611544] CRYBB1
Cerebellar ataxia and hypogonadotropic hypogonadism Gordon Holmes syndrome (GDHS) [MIM:212840] RNF216
Cerebellar atrophy, visual impairment, and psychomotor retardation Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) [MIM:619576] EXOSC5
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) [MIM:618879] PIGK
Spastic paraplegia 88, autosomal dominant (SPG88) [MIM:620106] KPNA3
Spastic paraplegia 90A, autosomal dominant (SPG90A) [MIM:620416] SPTSSA
Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) [MIM:616875] Cerebellar atrophy, visual impairment, and psychomotor retardation (CAVIPMR) [MIM:616875] EMC1
Cerebral amyloid angiopathy Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] APP
Cerebral arteriopathy Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] NOTCH3
Cerebral cavernous malformations Cerebral cavernous malformations 1 (CCM1) [MIM:116860] KRIT1
Cerebral cavernous malformations 2 (CCM2) [MIM:603284] CCM2
Cerebral cavernous malformations 4 (CCM4) [MIM:619538] PIK3CA
Cerebrocostomandibular syndrome Cerebrocostomandibular syndrome (CCMS) [MIM:117650] SNRPB
Cerebrooculofacioskeletal syndrome Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756] ERCC2
Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) [MIM:610758] ERCC1
Cerebroretinal microangiopathy with calcifications and cysts Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199] CTC1
Cerebroretinal microangiopathy with calcifications and cysts 2 (CRMCC2) [MIM:617341] STN1
Cervical cancer Cervical cancer (CERCA) [MIM:603956] FGFR3
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070] PRPS1
Charcot-Marie-Tooth disease, demyelinating, 1H (CMT1H) [MIM:619764] FBLN5
Charcot-Marie-Tooth disease, demyelinating, 1I (CMT1I) [MIM:619742] POLR3B
Charcot-Marie-Tooth disease, demyelinating, 1J (CMT1J) [MIM:620111] ITPR3
Charcot-Marie-Tooth disease, dominant intermediate G (CMTDIG) [MIM:617882] NEFL
Cherubism Cherubism (CRBM) [MIM:118400] SH3BP2
Childhood cancer retinoblastoma (RB) [MIM:180200] Childhood cancer retinoblastoma (RB) [MIM:180200] RB1
Chronic granulomatous disease Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] CYBB
Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] NCF2
Chronic infantile neurologic cutaneous and articular syndrome Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3
Chronic recurrent multifocal osteomyelitis 3 Chronic recurrent multifocal osteomyelitis 3 (CRMO3) [MIM:259680] IL1R1
Cirrhosis Cirrhosis (CIRRH) [MIM:215600] KRT8
Coagulation factor deficiency Factor II deficiency (FA2D) [MIM:613679] F2
Factor XII deficiency (FA12D) [MIM:234000] F12
Cockayne syndrome Cockayne syndrome A (CSA) [MIM:216400] ERCC8
Cockayne syndrome B (CSB) [MIM:133540] ERCC6
Coffin-Lowry syndrome Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3
Coffin-Siris syndrome 10 Coffin-Siris syndrome 11 (CSS11) [MIM:618779] SMARCD1
Coffin-Siris syndrome 8 (CSS8) [MIM:618362] Coffin-Siris syndrome 8 (CSS8) [MIM:618362] SMARCC2
Cohen-Gibson syndrome Cohen-Gibson syndrome (COGIS) [MIM:617561] EED
Cold-induced sweating syndrome Crisponi/Cold-induced sweating syndrome 1 (CISS1) [MIM:272430] CRLF1
Crisponi/Cold-induced sweating syndrome 2 (CISS2) [MIM:610313] CLCF1
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness (COMMAD) [MIM:617306] MITF
Colorectal cancer Hereditary non-polyposis colorectal cancer 6 (HNPCC6) [MIM:614331] TGFBR2
Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] NRAS, HRAS
Colorectal cancer (CRC) [MIM:114500] Colorectal cancer (CRC) [MIM:114500] BRAF, CTNNB1, MLH1, MT-CO1, PIK3CA
Combined immunodeficiency Immunodeficiency 107, susceptibility to invasive Staphylococcus aureus infection (IMD107) [MIM:619986] OTULIN
Immunodeficiency 120 (IMD120) [MIM:620836] POLD1
Immunodeficiency 84 (IMD84) [MIM:619437] IKZF3
Immunodeficiency 85 (IMD85) [MIM:619510] TOM1
Immunodeficiency 97 with autoinflammation (IMD97) [MIM:619802] PIK3CG
Immunodeficiency 98 with autoinflammation, X-linked (IMD98) [MIM:301078] TLR8
Combined oxidative phosphorylation Combined oxidative phosphorylation deficiency 30 (COXPD30) [MIM:616974] TRMT10C
Combined oxidative phosphorylation deficiency 33 (COXPD33) [MIM:617713] C1QBP
Combined oxidative phosphorylation deficiency Combined oxidative phosphorylation deficiency 19 (COXPD19) [MIM:615595] LYRM4
Combined oxidative phosphorylation deficiency 36 (COXPD36) [MIM:617950] MRPS2
Combined oxidative phosphorylation deficiency 38 (COXPD38) [MIM:618378] MRPS14
Combined oxidative phosphorylation deficiency 5 (COXPD5) [MIM:611719] MRPS22
Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 (HUMOP2) [MIM:620085] ATP5F1B
Combined oxidative phosphorylation deficiency 54 (COXPD54) [MIM:619737] Combined oxidative phosphorylation deficiency 54 (COXPD54) [MIM:619737] PRORP
Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] Combined oxidative phosphorylation deficiency 55 (COXPD55) [MIM:619743] POLRMT
Combined oxidative phosphorylation deficiency 58 (COXPD58) [MIM:620451] Combined oxidative phosphorylation deficiency 58 (COXPD58) [MIM:620451] TEFM
Combined oxidative phosphorylation deficiency II Combined oxidative phosphorylation deficiency 43 (COXPD43) [MIM:618851] TIMM22
Combined oxidative phosphorylation deficiency 46 (COXPD46) [MIM:618952] MRPS23
Combined oxidative phosphorylation deficiency 47 (COXPD47) [MIM:618958] MRPS28
Combined oxidative phosphorylation deficiency 50 (COXPD50) [MIM:619025] MRPS25
Combined oxidative phosphorylation deficiency 52 (COXPD52) [MIM:619386] NFS1
Complement component deficiency C1q deficiency 2 (C1QD2) [MIM:620321] C1QB
C1q deficiency 3 (C1QD3) [MIM:620322] C1QC
Complement component 7 deficiency (C7D) [MIM:610102] C7
MHC class II deficiency 2 (MHC2D2) [MIM:620815] RFXANK
Complement factors deficiency Complement factor I deficiency (CFI deficiency) [MIM:610984] CFI
Cone-rod dystrophy Cone dystrophy 4 (COD4) [MIM:613093] PDE6C
Corneal dystrophy, punctiform and polychromatic pre-Descemet (PPPCD) [MIM:619871] PRDX3
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1 (MRCS1) [MIM:619082] ARL2
Congenital bilateral absence of the vas deferens Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR
Congenital clubfoot Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) [MIM:119800] PITX1
Congenital heart defects Congenital heart defects and skeletal malformations syndrome (CHDSKM) [MIM:617602] ABL1
Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159] CHD4
Takenouchi-Kosaki syndrome (TKS) [MIM:616737] CDC42
Congenital heart defects and ectodermal dysplasia Congenital heart defects and ectodermal dysplasia (CHDED) [MIM:617364] PRKD1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360] CDK13
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] ACTB
Congenital stationary night blindness Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565] GPR179
Corneal dystrophy Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] TGFBI
Corneal dystrophy, lattice type 3A (CDL3A) [MIM:608471] TGFBI
Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] KRT12
Cornelia de Lange syndrome Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] NIPBL
Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] SMC1A
Cornelia de Lange syndrome 4 with or without midline brain defects (CDLS4) [MIM:614701] RAD21
Cortical dysplasia complex with other brain malformations Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039] TUBB3
Cortical dysplasia, complex, with other brain malformations 4 (CDCBM4) [MIM:615412] TUBG1
Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) [MIM:615763] TUBB2A
Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) [MIM:615771] TUBB
Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] TUBB2B
Cowden disease Cowden syndrome 1 (CWS1) [MIM:158350] PTEN
Cowden syndrome 5 (CWS5) [MIM:615108] PIK3CA
Cowden syndrome 6 (CWS6) [MIM:615109] AKT1
Craniosynostosis Craniosynostosis 2 (CRS2) [MIM:604757] MSX2
Craniosynostosis 3 (CRS3) [MIM:615314] TCF12
Craniosynostosis and dental anomalies (CRSDA) [MIM:614188] IL11RA
Trigonocephaly 1 (TRIGNO1) [MIM:190440] FGFR1
Crouzon syndrome Crouzon syndrome (CS) [MIM:123500] FGFR2
Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247] FGFR3
Cutis laxa Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100] FBLN5
Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402] ATP6V1E1
Cutis laxa, autosomal recessive, 2D (ARCL2D) [MIM:617403] ATP6V1A
Cyanosis Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2
Cystic fibrosis (CF) [MIM:219700] Cystic fibrosis (CF) [MIM:219700] CFTR
D-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657] IDH2
Deafness Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1
Deafness, autosomal dominant, 2A (DFNA2A) [MIM:600101] KCNQ4
Deafness, autosomal dominant, 64 (DFNA64) [MIM:614152] DIABLO
Deafness, autosomal dominant, 70 (DFNA70) [MIM:616968] MCM2
Deafness, autosomal recessive, 35 (DFNB35) [MIM:608565] ESRRB
Deafness, autosomal recessive, 68 (DFNB68) [MIM:610419] S1PR2
Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916] KARS1
Deafness, congenital, and adult-onset progressive leukoencephalopathy (DEAPLE) [MIM:619196] KARS1
Leukodystrophy, hypomyelinating, 21 (HLD21) [MIM:619310] POLR3K
Leukoencephalopathy, progressive, infantile-onset, with or without deafness (LEPID) [MIM:619147] KARS1
Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB) [MIM:616531] PI4KA
Dehydrated hereditary stomatocytosis 2 Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema (DHS1) [MIM:194380] PIEZO1
Dejerine-Sottas syndrome Leber-like hereditary optic neuropathy, autosomal recessive 2 (LHONAR2) [MIM:620569] NDUFS2
Visceral neuropathy, familial, 1, autosomal recessive (VSCN1) [MIM:243180] ERBB3
Visceral neuropathy, familial, 2, autosomal recessive (VSCN2) [MIM:619465] ERBB2
Dementia Dementia, Lewy body (DLB) [MIM:127750] SNCA
Frontotemporal dementia (FTD) [MIM:600274] PSEN1, MAPT
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] TBK1
Parkinsonism with polyneuropathy (PKNPY) [MIM:619279] UQCRC1
Denys-Drash syndrome Denys-Drash syndrome (DDS) [MIM:194080] WT1
Developmental and epileptic encephalopathy 108 (DEE108) [MIM:620115] Developmental and epileptic encephalopathy 108 (DEE108) [MIM:620115] MAST3
Diabetes insipidus Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] AVPR2
Diabetes mellitus Bone marrow failure syndrome 6 (BMFS6) [MIM:618849] MDM4
Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] INS
Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR
Maturity-onset diabetes of the young 13 (MODY13) [MIM:616329] KCNJ11
Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 1 (PFBMFT1) [MIM:614742] TERT
Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 5 (PFBMFT5) [MIM:618674] ZCCHC8
Type 1 diabetes mellitus 2 (T1D2) [MIM:125852] INS
Type 2 diabetes mellitus (T2D) [MIM:125853] INSR
Diamond-Blackfan anemia Diamond-Blackfan anemia 13 (DBA13) [MIM:615909] RPS29
Digital arthropathy-brachydactyly Digital arthropathy-brachydactyly, familial (FDAB) [MIM:606835] TRPV4
Dihydrolipoamide dehydrogenase deficiency Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] DLD
Disabling pansclerotic morphea of childhood Disabling pansclerotic morphea of childhood (DPMC) [MIM:620443] STAT4
Dysfibrinogenemia Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] FGA, FGG, FGB
Dyskeratosis congenita Autoinflammation with arthritis and dyskeratosis (AIADK) [MIM:617388] NLRP1
Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] DKC1
Dyskeratosis congenita, autosomal recessive, 3 (DKCB3) [MIM:613988] WRAP53
Dystonia Dystonia 2, torsion, autosomal recessive (DYT2) [MIM:224500] HPCA
Dystonia 4, torsion, autosomal dominant (DYT4) [MIM:128101] TUBB4A
Epilepsy, progressive myoclonic 9 (EPM9) [MIM:616540] LMNB2
Hypermanganesemia with dystonia 1 (HMNDYT1) [MIM:613280] SLC30A10
Dystonia-deafness syndrome 1 Dystonia-deafness syndrome 1 (DDS1) [MIM:607371] ACTB
Ectodermal dysplasia Ectodermal dysplasia 7, hair/nail type (ECTD7) [MIM:614929] KRT74
Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291] IKBKG
Ectodermal dysplasia and immunodeficiency 2 (EDAID2) [MIM:612132] NFKBIA
Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies (EDFAOB) [MIM:618727] RHOA
Ectrodactyly-ectodermal dysplasia Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63
Ehlers-Danlos syndrome Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] COL3A1
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (PMGEDSV) [MIM:618343] COL3A1
Elliptocytosis Elliptocytosis 2 (EL2) [MIM:130600] SPTA1
Elliptocytosis 3 (EL3) [MIM:617948] SPTB
Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:616516] LMNA
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA
Encephalitis, acute, infection-induced, 12 (IIAE12) [MIM:620461] Encephalitis, acute, infection-induced, 12 (IIAE12) [MIM:620461] RNH1
Encephalocraniocutaneous lipomatosis Encephalocraniocutaneous lipomatosis (ECCL) [MIM:613001] FGFR1
Enhanced S cone syndrome Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3
Epidermolysis bullosa Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] KRT14
Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900] KRT14
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] KRT14
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive (EBS1D) [MIM:601001] KRT14
Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] KRT5
Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] KRT5
Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] KRT5
Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive (EBS2D) [MIM:619599] KRT5
Epidermolysis bullosa, junctional 5B, with pyloric atresia (JEB5B) [MIM:226730] ITGB4
Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] KRT1
Epidermolytic hyperkeratosis 2A (EHK2A) [MIM:620150] KRT10
Epilepsy Developmental and epileptic encephalopathy 104 (DEE104) [MIM:619970] ATP6V0A1
Developmental and epileptic encephalopathy 109 (DEE109) [MIM:620145] FZR1
Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] SCN2A
Developmental and epileptic encephalopathy 111 (DEE111) [MIM:620504] DEPDC5
Developmental and epileptic encephalopathy 17 (DEE17) [MIM:615473] GNAO1
Developmental and epileptic encephalopathy 19 (DEE19) [MIM:615744] GABRA1
Developmental and epileptic encephalopathy 2 (DEE2) [MIM:300672] CDKL5
Developmental and epileptic encephalopathy 26 (DEE26) [MIM:616056] KCNB1
Developmental and epileptic encephalopathy 27 (DEE27) [MIM:616139] GRIN2B
Developmental and epileptic encephalopathy 31A (DEE31A) [MIM:616346] DNM1
Developmental and epileptic encephalopathy 33 (DEE33) [MIM:616409] EEF1A2
Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] STXBP1
Developmental and epileptic encephalopathy 44 (DEE44) [MIM:617132] UBA5
Developmental and epileptic encephalopathy 46 (DEE46) [MIM:617162] GRIN2D
Developmental and epileptic encephalopathy 5 (DEE5) [MIM:613477] SPTAN1
Developmental and epileptic encephalopathy 56 (DEE56) [MIM:617665] YWHAG
Developmental and epileptic encephalopathy 59 (DEE59) [MIM:617904] GABBR2
Developmental and epileptic encephalopathy 65 (DEE65) [MIM:618008] CYFIP2
Developmental and epileptic encephalopathy 74 (DEE74) [MIM:618396] GABRG2
Developmental and epileptic encephalopathy 78 (DEE78) [MIM:618557] GABRA2
Developmental and epileptic encephalopathy 99 (DEE99) [MIM:619606] ATP1A3
Epilepsy, childhood absence 2 (ECA2) [MIM:607681] GABRG2
Epilepsy, childhood absence 5 (ECA5) [MIM:612269] GABRB3
Epilepsy, familial focal, with variable foci 1 (FFEVF1) [MIM:604364] DEPDC5
Epilepsy, idiopathic generalized 13 (EIG13) [MIM:611136] GABRA1
Epilepsy, idiopathic generalized 17 (EIG17) [MIM:602477] HCN2
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (EPM3) [MIM:611726] KCTD7
Epilepsy, progressive myoclonic 7 (EPM7) [MIM:616187] KCNC1
Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] HCN1
Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] SCN1A
Generalized epilepsy with febrile seizures plus 3 (GEFSP3) [MIM:607681] GABRG2
Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] STX1B
Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] SCN1A
Juvenile myoclonic epilepsy 5 (EJM5) [MIM:611136] GABRA1
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (PNKD3) [MIM:609446] KCNMA1
Epilepsy, early-onset, 3, with or without developmental delay (EPEO3) [MIM:620465] Epilepsy, early-onset, 3, with or without developmental delay (EPEO3) [MIM:620465] ATP6V0C
Epileptic encephalopathy Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829] GABRB2
Epiphyseal chondrodysplasia, Miura type Epiphyseal chondrodysplasia, Miura type (ECDM) [MIM:615923] NPR2
Episodic ataxia Episodic ataxia 2 (EA2) [MIM:108500] CACNA1A
Episodic pain syndrome Episodic pain syndrome, familial, 1 (FEPS1) [MIM:615040] TRPA1
Erythermalgia Primary erythermalgia (PERYTHM) [MIM:133020] SCN9A
Erythrocytosis Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] VHL
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] EPAS1
Estrogen resistance Estrogen resistance (ESTRR) [MIM:615363] ESR1
Exudative vitreoretinopathy Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4
FG syndrome FG syndrome 4 (FGS4) [MIM:300422] CASK
Facial paresis Facial paresis, hereditary congenital, 3 (HCFP3) [MIM:614744] HOXB1
Faciocutaneoskeletal syndrome Costello syndrome (CSTLO) [MIM:218040] HRAS
Factor X deficiency (FA10D) [MIM:227600] Factor X deficiency (FA10D) [MIM:227600] F10
Factor XIII subunit B deficiency (FA13BD) [MIM:613235] Factor XIII subunit B deficiency (FA13BD) [MIM:613235] F13B
Familial Mediterranean fever Familial Mediterranean fever, autosomal recessive (ARFMF) [MIM:249100] MEFV
Familial adenomatous polyposis 1 (FAP1) [MIM:175100] Familial adenomatous polyposis 1 (FAP1) [MIM:175100] APC
Familial advanced sleep-phase syndrome Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224] CSNK1D
Familial cold autoinflammatory syndrome Familial cold autoinflammatory syndrome 1 (FCAS1) [MIM:120100] NLRP3
Proteasome-associated autoinflammatory syndrome 6 (PRAAS6) [MIM:620796] PSMB9
Familial hyperproinsulinemia Hyperproinsulinemia (HPRI) [MIM:616214] INS
Fanconi anemia Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] BRCA2
Fanconi anemia complementation group I (FANCI) [MIM:609053] FANCI
Fanconi anemia complementation group Q (FANCQ) [MIM:615272] ERCC4
Fanconi anemia complementation group T (FANCT) [MIM:616435] UBE2T
Fanconi anemia, complementation group R (FANCR) [MIM:617244] RAD51
Fanconi anemia, complementation group S (FANCS) [MIM:617883] BRCA1
Faundes-Banka syndrome Faundes-Banka syndrome (FABAS) [MIM:619376] EIF5A
Feingold syndrome Feingold syndrome 1 (FGLDS1) [MIM:164280] MYCN
Fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1
Fibrosis of extraocular muscles Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] KIF21A
Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638] TUBB3
Focal cortical dysplasia 2 (FCORD2) [MIM:607341] Focal cortical dysplasia 2 (FCORD2) [MIM:607341] TSC1
Focal segmental glomerulosclerosis Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965] TRPC6
Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4
Fragile X syndrome Fragile X syndrome (FXS) [MIM:300624] FMR1
Frontometaphyseal dysplasia Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137] MAP3K7
Frontotemporal Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (ALS12) [MIM:613435] OPTN
Amyotrophic lateral sclerosis 27, juvenile (ALS27) [MIM:620285] SPTLC1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 (FTDALS6) [MIM:613954] VCP
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7) [MIM:600795] CHMP2B
GM1/2-gangliosidosis GM1-gangliosidosis 1 (GM1G1) [MIM:230500] GLB1
GM1-gangliosidosis 2 (GM1G2) [MIM:230600] GLB1
Gabriele-de Vries syndrome Gabriele-de Vries syndrome (GADEVS) [MIM:617557] YY1
Galactosialidosis Galactosialidosis (GSL) [MIM:256540] CTSA
Galloway-Mowat syndrome Galloway-Mowat syndrome 2, X-linked (GAMOS2) [MIM:301006] LAGE3
Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] OSGEP
Galloway-Mowat syndrome 4 (GAMOS4) [MIM:617730] TP53RK
Gastric cancer Diffuse gastric and lobular breast cancer syndrome (DGLBC) [MIM:137215] CDH1
Gastric cancer (GASC) [MIM:613659] KRAS
Gaucher disease Gaucher disease, atypical, due to saposin C deficiency (GDSAPC) [MIM:610539] PSAP
Germ cell tumor Testicular germ cell tumor (TGCT) [MIM:273300] FGFR3, STK11
Glanzmann thrombasthenia Glanzmann thrombasthenia 1 (GT1) [MIM:273800] ITGA2B
Glanzmann thrombasthenia 2 (GT2) [MIM:619267] ITGB3
Glaucoma 1, open angle, E (GLC1E) [MIM:137760] Glaucoma 1, open angle, E (GLC1E) [MIM:137760] OPTN
Glioma (GLM) [MIM:137800] Glioma (GLM) [MIM:137800] H3-3B, H3C12, IDH2
Glomerulopathy Lipoprotein glomerulopathy (LPG) [MIM:611771] APOE
Glucocorticoid deficiency Glucocorticoid deficiency 1 (GCCD1) [MIM:202200] MC2R
Glucocorticoid resistance, generalized (GCCR) [MIM:615962] Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1
Glutaric aciduria Glutaric aciduria 2B (GA2B) [MIM:231680] ETFB
Glycine encephalopathy Encephalopathy, acute, infection-induced, 7, herpes-specific (IIAE7) [MIM:616532] IRF3
Encephalopathy, acute, infection-induced, 8, herpes-specific (IIAE8) [MIM:617900] TBK1
Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis (PEERB) [MIM:618331] TRAPPC2L
Glycogen storage disease of heart Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740] PRKAG2
Glycosylphosphatidylinositol biosynthesis defect Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810] GPAA1
Glycosylphosphatidylinositol biosynthesis defect 18 (GPIBD18) [MIM:618143] PIGS
Growth hormone deficiency Growth hormone deficiency, isolated partial (GHDP) [MIM:615925] GHSR
Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100] GH1
Growth hormone insensitivity Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive (GHISID1) [MIM:245590] STAT5B
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant (GHISID2) [MIM:618985] STAT5B
Growth hormone insensitivity, partial (GHIP) [MIM:604271] GHR
Growth retardation Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101] BCL11A
Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] CSNK2A1
Hao-Fountain syndrome Hao-Fountain syndrome (HAFOUS) [MIM:616863] USP7
Hartnup disorder Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] GRIN2A
Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASK
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures (NEDHSS) [MIM:620455] EIF4A2
Neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures (NEDHCS) [MIM:614501] SNIP1
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] GNAI1
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) [MIM:619725] KCNN2
Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) [MIM:619056] SETD1A
Hartsfield syndrome Hartsfield syndrome (HRTFDS) [MIM:615465] FGFR1
Hemangioma capillary infantile Hemangioma, capillary infantile (HCI) [MIM:602089] FLT4
Hemifacial myohyperplasia Hemifacial myohyperplasia (HFMH) [MIM:606773] PIK3CA
Hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506] GDF2
Hepatocellular carcinoma Hepatocellular carcinoma (HCC) [MIM:114550] PIK3CA, MET
Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 2 (HPS2) [MIM:608233] AP3B1
Hiatt-Neu-Cooper neurodevelopmental syndrome Hiatt-Neu-Cooper neurodevelopmental syndrome (HINCONS) [MIM:619311] RALA
Hirschsprung disease Hirschsprung disease 1 (HSCR1) [MIM:142623] RET
Hirschsprung disease 3 (HSCR3) [MIM:613711] GDNF
Holt-Oram syndrome Holt-Oram syndrome (HOS) [MIM:142900] TBX5
Houge-Janssens syndrome Houge-Janssens syndrome 1 (HJS1) [MIM:616355] PPP2R5D
Houge-Janssens syndrome 2 (HJS2) [MIM:616362] PPP2R1A
Houge-Janssens syndrome 3 (HJS3) [MIM:618354] PPP2CA
Hoyeraal-Hreidarsson syndrome Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000] DKC1
Humerofemoral hypoplasia with radiotibial ray deficiency Humerofemoral hypoplasia with radiotibial ray deficiency (HHRRD) [MIM:618022] RSPO2
Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA
Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] STAT3
Hypercholanemia Hypercholanemia, familial, 1 (FHCA1) [MIM:607748] TJP2
Hypercholesterolemia Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776] PCSK9
Hyperinsulinemic hypoglycemia Hyperinsulinemic hypoglycemia, familial, 5 (HHF5) [MIM:609968] INSR
Hyperinsulinemic hypoglycemia, familial, 6 (HHF6) [MIM:606762] GLUD1
Hyperoxaluria Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT
Hyperparathyroidism Hyperparathyroidism, neonatal severe (NSHPT) [MIM:239200] CASR
Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188] TRPV6
Hyperphenylalaninemia Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910] GCH1
Hyperthyroidism Familial gestational hyperthyroidism (HTFG) [MIM:603373] TSHR
Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] TSHR
Hyperthyroxinemia, dystransthyretinemic Hyperthyroxinemia, dystransthyretinemic (DTTRH) [MIM:145680] TTR
Hypocalcemia Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] CASR
Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361] GNA11
Hypochondroplasia Hypochondroplasia (HCH) [MIM:146000] FGFR3
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1
Hypogonadotropic hypogonadism 24 with or without anosmia (HH24) [MIM:229070] FSHB
Hypomagnesemia Hypomagnesemia 2 (HOMG2) [MIM:154020] FXYD2
Hypomagnesemia, seizures, and impaired intellectual development 2 (HOMGSMR2) [MIM:618314] ATP1A1
Hypomyelination with brainstem and spinal cord involvement and leg spasticity Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] DARS1
Hypophosphataemic rickets Hypophosphatemic rickets, autosomal dominant (ADHR) [MIM:193100] FGF23
Hypothyroidism Hypothyroidism, congenital, non-goitrous, 4 (CHNG4) [MIM:275100] TSHB
Hypothyroidism, congenital, non-goitrous, 5 (CHNG5) [MIM:225250] NKX2-5
Hypothyroidism, congenital, non-goitrous, 7 (CHNG7) [MIM:618573] TRHR
Hypotonia, infantile, with psychomotor retardation Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 (IHPRF2) [MIM:616801] UNC80
Hypotrichosis Hypotrichosis 11 (HYPT11) [MIM:615059] SNRPE
Ichthyosis Ichthyosis bullosa of Siemens (IBS) [MIM:146800] KRT2
Ichthyosis, annular epidermolytic, 1 (AEI1) [MIM:607602] KRT10
Ichthyosis, annular epidermolytic, 2 (AEI2) [MIM:620148] KRT1
Ichthyosis, congenital, autosomal recessive 11 (ARCI11) [MIM:602400] ST14
Imagawa-Matsumoto syndrome (IMMAS) [MIM:618786] Imagawa-Matsumoto syndrome (IMMAS) [MIM:618786] SUZ12
Immunodeficiency Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation (IDAIL) [MIM:616100] CTLA4
Immunodeficiency 10 (IMD10) [MIM:612783] STIM1
Immunodeficiency 11B with atopic dermatitis (IMD11B) [MIM:617638] CARD11
Immunodeficiency 16 (IMD16) [MIM:615593] TNFRSF4
Immunodeficiency 20 (IMD20) [MIM:615707] FCGR3A
Immunodeficiency 26 with or without neurologic abnormalities (IMD26) [MIM:615966] PRKDC
Immunodeficiency 27A (IMD27A) [MIM:209950] IFNGR1
Immunodeficiency 28 (IMD28) [MIM:614889] IFNGR2
Immunodeficiency 31A (IMD31A) [MIM:614892] STAT1
Immunodeficiency 31B (IMD31B) [MIM:613796] STAT1
Immunodeficiency 33 (IMD33) [MIM:300636] IKBKG
Immunodeficiency 50 (IMD50) [MIM:300988] MSN
Immunodeficiency 60 and autoimmunity (IMD60) [MIM:618394] BACH2
Immunodeficiency 67 (IMD67) [MIM:607676] IRAK4
Immunodeficiency 68 (IMD68) [MIM:612260] MYD88
Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia (IMD73B) [MIM:618986] RAC2
Immunodeficiency 82 with systemic inflammation (IMD82) [MIM:619381] SYK
Immunodeficiency 9 (IMD9) [MIM:612782] ORAI1
Immunodeficiency 112 (IMD112) [MIM:620449] Immunodeficiency 112 (IMD112) [MIM:620449] MAP3K14
Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] FOXP3
Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B
Immunoglobulin kappa light chain deficiency Immunoglobulin kappa light chain deficiency (IGKCD) [MIM:614102] IGKC
Inclusion body myopathy Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 (IBMPFD2) [MIM:615422] HNRNPA2B1
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 (IBMPFD3) [MIM:615424] HNRNPA1
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP
Incontinentia pigmenti Incontinentia pigmenti (IP) [MIM:308300] IKBKG
Infections recurrent associated with encephalopathy hepatic dysfunction and cardiovascular malformations Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759] FADD
Inflammatory bowel disease Inflammatory bowel disease, immunodeficiency, and encephalopathy (IBDIMDE) [MIM:618213] TGFB1
Insensitivity to pain Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1
Indifference to pain, congenital, autosomal recessive (CIP) [MIM:243000] SCN9A
Insulin-like growth factor 1 resistance Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] IGF1R
Intellectual developmental disorder with dysmorphic facies and ptosis Intellectual developmental disorder with hypertelorism and distinctive facies (IDDHDF) [MIM:618147] CCNK
Intellectual developmental disorder with macrocephaly, seizures, and speech delay (IDDMSSD) [MIM:618158] PAK1
Intellectual developmental disorder with hypotonia and behavioral abnormalities Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) [MIM:618748] CDK8
Intellectual developmental disorder with impaired language and dysmorphic facies Intellectual developmental disorder with impaired language and dysmorphic facies (IDDILF) [MIM:618653] DDX6
Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism (IDLDP) [MIM:619911] Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism (IDLDP) [MIM:619911] NR4A2
Intellectual developmental disorder, X-linked, syndromic, Intellectual developmental disorder, X-linked, syndromic, Snijders Blok type (MRXSSB) [MIM:300958] DDX3X
Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] TRIO
Intellectual developmental disorder, autosomal dominant 57 (MRD57) [MIM:618050] Intellectual developmental disorder, autosomal dominant 57 (MRD57) [MIM:618050] TLK2
Intellectual developmental disorder, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970] Intellectual developmental disorder, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970] GRIN2B
Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) [MIM:123150] FGFR2, FGFR1
Jervell and Lange-Nielsen syndrome Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400] KCNQ1
Joubert syndrome Joubert syndrome 3 (JBTS3) [MIM:608629] AHI1
Juvenile polyposis Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A, SMAD4
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050] SMAD4
Kabuki syndrome 1 (KABUK1) [MIM:147920] Kabuki syndrome 1 (KABUK1) [MIM:147920] KMT2D
Keratinocytic non-epidermolytic nevus Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] FGFR3, NRAS
Keratoendothelitis fugax hereditaria Keratoendothelitis fugax hereditaria (KEFH) [MIM:148200] NLRP3
Keratosis Keratosis, seborrheic (KERSEB) [MIM:182000] FGFR3, PIK3CA
Kniest dysplasia Cardioacrofacial dysplasia 1 (CAFD1) [MIM:619142] PRKACA
Cardioacrofacial dysplasia 2 (CAFD2) [MIM:619143] PRKACB
Knobloch syndrome Knobloch syndrome 2 (KNO2) [MIM:618458] PAK2
Kury-Isidor syndrome Kury-Isidor syndrome (KURIS) [MIM:619762] BAP1
Lacrimo-auriculo-dento-digital syndrome II Lacrimo-auriculo-dento-digital syndrome 1 (LADD1) [MIM:149730] FGFR2
Laron syndrome Laron syndrome (LARS) [MIM:262500] GHR
Leber congenital amaurosis Leber congenital amaurosis 11 (LCA11) [MIM:613837] IMPDH1
Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879] TUBB4B
Leber hereditary optic neuropathy (LHON) [MIM:535000] Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND4L, MT-ND5, MT-ND6, MT-ND2, MT-CO3
Leber optic neuropathy Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001] MT-ND6
Left ventricular non-compaction Congenital heart defects, multiple types, 8, with or without heterotaxy (CHTD8) [MIM:619657] SMAD2
Left ventricular non-compaction 7 (LVNC7) [MIM:615092] MIB1
Left ventricular non-compaction 9 (LVNC9) [MIM:611878] TPM1
Left ventricular non-compaction 5 (LVNC5) [MIM:613426] Left ventricular non-compaction 5 (LVNC5) [MIM:613426] MYH7
Leigh syndrome (LS) [MIM:256000] Leigh syndrome (LS) [MIM:256000] MT-ND6, SDHA, MT-ND3, MT-ATP6
Leopard syndrome LEOPARD syndrome 1 (LPRD1) [MIM:151100] PTPN11
LEOPARD syndrome 2 (LPRD2) [MIM:611554] RAF1
LEOPARD syndrome 3 (LPRD3) [MIM:613707] BRAF
Leprechaunism Leprechaunism (LEPRCH) [MIM:246200] INSR
Lethal congenital contracture syndrome Lethal congenital contracture syndrome 1 (LCCS1) [MIM:253310] GLE1
Leukemia Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] KRAS, PTPN11, NRAS
Leukemia, acute myelogenous (AML) [MIM:601626] Leukemia, acute myelogenous (AML) [MIM:601626] JAK2, DNMT3A
Leukocyte adhesion deficiency Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2
Leukodystrophy hypomyelinating Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] POLR1C
Leukodystrophy, hypomyelinating, 14 (HLD14) [MIM:617899] UFM1
Leukodystrophy, hypomyelinating, 6 (HLD6) [MIM:612438] TUBB4A
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] POLR3A
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381] POLR3B
Leukodystrophy with vanishing white matter Leukoencephalopathy with vanishing white matter 1 (VWM1) [MIM:603896] EIF2B1
Leukoencephalopathy with vanishing white matter 2 (VWM2) [MIM:620312] EIF2B2
Leukoencephalopathy with vanishing white matter 3 (VWM3) [MIM:620313] EIF2B3
Leukoencephalopathy with vanishing white matter 4 (VWM4) [MIM:620314] EIF2B4
Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] EIF2B5
Leukodystrophy, hypomyelinating, 15 (HLD15) [MIM:617951] Leukodystrophy, hypomyelinating, 15 (HLD15) [MIM:617951] EPRS1
Li-Fraumeni syndrome Li-Fraumeni syndrome (LFS) [MIM:151623] TP53
Tumor predisposition syndrome 3 (TPDS3) [MIM:615848] POT1
Tumor predisposition syndrome 4 (TPDS4) [MIM:609265] CHEK2
Liang-Wang syndrome Liang-Wang syndrome (LIWAS) [MIM:618729] KCNMA1
Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820] Limb pelvis hypoplasia aplasia syndrome (LPHAS) [MIM:276820] WNT7A
Limb-girdle muscular dystrophy Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA
Muscular dystrophy, limb-girdle, autosomal dominant 3 (LGMDD3) [MIM:609115] HNRNPDL
Lipodystrophy Lipodystrophy, congenital generalized, 5 (CGL5) [MIM:620680] PCYT1A
Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] LMNA
Lipodystrophy, familial partial, 3 (FPLD3) [MIM:604367] PPARG
Partial acquired lipodystrophy (APLD) [MIM:608709] LMNB2
Lissencephaly Lissencephaly 1 (LIS1) [MIM:607432] PAFAH1B1
Lissencephaly 3 (LIS3) [MIM:611603] TUBA1A
Lissencephaly with microcephaly Lissencephaly 6, with microcephaly (LIS6) [MIM:616212] KATNB1
Loeys-Dietz syndrome Loeys-Dietz syndrome 1 (LDS1) [MIM:609192] TGFBR1
Loeys-Dietz syndrome 2 (LDS2) [MIM:610168] TGFBR2
Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] SMAD3
Loeys-Dietz syndrome 4 (LDS4) [MIM:614816] TGFB2
Loeys-Dietz syndrome 6 (LDS6) [MIM:619656] Loeys-Dietz syndrome 6 (LDS6) [MIM:619656] SMAD2
Long QT syndrome Long QT syndrome 14 (LQT14) [MIM:616247] CALM1
Long QT syndrome 15 (LQT15) [MIM:616249] CALM2
Long QT syndrome 16 (LQT16) [MIM:618782] CALM3
Long QT syndrome 7 (LQT7) [MIM:170390] KCNJ2
Long QT syndrome 6 (LQT6) [MIM:613693] Long QT syndrome 6 (LQT6) [MIM:613693] KCNE2
Long-Olsen-Distelmaier syndrome Long-Olsen-Distelmaier syndrome (LNGODS) [MIM:620609] RRAGC
Lung cancer (LNCR) [MIM:211980] Lung cancer (LNCR) [MIM:211980] BRAF
Luo-Schoch-Yamamoto syndrome Luo-Schoch-Yamamoto syndrome (LUSYAM) [MIM:619460] RNF2
Luteinizing hormone resistance Luteinizing hormone resistance (LHR) [MIM:238320] LHCGR
Lymphedema Facial palsy, congenital, with ptosis and velopharyngeal dysfunction (FPVEPD) [MIM:617732] TUBB6
Lymphoma Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A
Lynch syndrome 2 (LYNCH2) [MIM:609310] Lynch syndrome 2 (LYNCH2) [MIM:609310] MLH1
MEHMO syndrome (MEHMO) [MIM:300148] MEHMO syndrome (MEHMO) [MIM:300148] EIF2S3
Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin (MNDLFH) [MIM:619769] ZBTB7A
Macrodactyly Macrodactyly (MADAC) [MIM:155500] PIK3CA
Macrothrombocytopenia Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100] MYH9
Macular dystrophy Macular dystrophy, patterned, 2 (MDPT2) [MIM:608970] CTNNA1
Mandibuloacral dysplasia Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] LMNA
Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] ZMPSTE24
Mandibulofacial dysostosis Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] EFTUD2
Marbach-Schaaf neurodevelopmental syndrome (MASNS) [MIM:619680] Marbach-Schaaf neurodevelopmental syndrome (MASNS) [MIM:619680] PRKAR1B
Mastocytosis, cutaneous Mastocytosis, systemic (MASTSYS) [MIM:154800] KIT
Mastocytosis, cutaneous (MASTC) [MIM:154800] Mastocytosis, cutaneous (MASTC) [MIM:154800] KIT
Maturity-onset diabetes of the young Maturity-onset diabetes of the young 1 (MODY1) [MIM:125850] HNF4A
Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370] INS
McCune-Albright syndrome McCune-Albright syndrome (MAS) [MIM:174800] GNAS
Meacham syndrome Meacham syndrome (MEACHS) [MIM:608978] WT1
Medullary thyroid carcinoma Medullary thyroid carcinoma (MTC) [MIM:155240] RET
Medulloblastoma Medulloblastoma (MDB) [MIM:155255] APC, CTNNB1
Meesmann corneal dystrophy Corneal dystrophy, Meesmann 2 (MECD2) [MIM:618767] KRT3
Megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5) [MIM:619431] ACTG2
Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] PIK3CA
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937] AKT3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387] Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387] PIK3R2
Meier-Gorlin syndrome Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] ORC1
Meier-Gorlin syndrome 2 (MGORS2) [MIM:613800] ORC4
Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] CDT1
Meier-Gorlin syndrome 5 (MGORS5) [MIM:613805] CDC6
Meier-Gorlin syndrome 8 (MGORS8) [MIM:617564] MCM5
Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] Meier-Gorlin syndrome 7 (MGORS7) [MIM:617063] CDC45
Melanoma Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] CDK4
Melanosis, neurocutaneous Melanosis, neurocutaneous (NCMS) [MIM:249400] NRAS
Mental retardation Intellectual developmental disorder, X-linked 1 (XLID1) [MIM:309530] IQSEC2
Intellectual developmental disorder, X-linked, syndromic 14 (MRXS14) [MIM:300676] UPF3B
Intellectual developmental disorder, X-linked, syndromic 33 (MRXS33) [MIM:300966] TAF1
Intellectual developmental disorder, X-linked, syndromic, Bain type (MRXSB) [MIM:300986] HNRNPH2
Intellectual developmental disorder, X-linked, syndromic, Nascimento-type (MRXSN) [MIM:300860] UBE2A
Intellectual developmental disorder, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1
Intellectual developmental disorder, autosomal dominant 38 (MRD38) [MIM:616393] EEF1A2
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] GNB1
Intellectual developmental disorder, autosomal dominant 47 (MRD47) [MIM:617635] STAG1
Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] RAC1
Intellectual developmental disorder, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A
Intellectual developmental disorder, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B
Intellectual developmental disorder, autosomal dominant 59 (MRD59) [MIM:618522] CAMK2G
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MRD63) [MIM:618825] TRIO
Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly (MRT34) [MIM:614499] CRADD
Intellectual developmental disorder, autosomal recessive 60 (MRT60) [MIM:617432] TAF13
Intellectual developmental disorder, autosomal recessive 63 (MRT63) [MIM:618095] CAMK2A
Intellectual developmental disorder, autosomal recessive 64 (MRT64) [MIM:618103] LINGO1
Intellectual developmental disorder, autosomal recessive 73 (MRT73) [MIM:619717] NAA20
Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly (MRT75) [MIM:619827] PIDD1
Metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, Jansen type (MCDJ) [MIM:156400] PTH1R
Metatropic dysplasia Metatropic dysplasia (MTD) [MIM:156530] TRPV4
Microcephaly Microcephaly 12, primary, autosomal recessive (MCPH12) [MIM:616080] CDK6
Microcephaly 26, primary, autosomal dominant (MCPH26) [MIM:619179] LMNB1
Microcephaly 27, primary, autosomal dominant (MCPH27) [MIM:619180] LMNB2
Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development (MCLMR) [MIM:152950] KIF11
Microcephaly, postnatal progressive, with seizures and brain atrophy (MCPHSBA) [MIM:613668] MED17
Neurodevelopmental disorder with microcephaly and structural brain anomalies (NEDMIBA) [MIM:618492] DYNC1I2
Microcephaly-capillary malformation syndrome Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261] STAMBP
Microphthalmia Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524] RARB
Mirror movements 1 (MRMV1) [MIM:157600] Mirror movements 1 (MRMV1) [MIM:157600] DCC
Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome 16, hepatic type (MTDPS16) [MIM:618528] POLG2
Mitochondrial complex Mitochondrial complex I deficiency, nuclear type 36 (MC1DN36) [MIM:619170] NDUFC2
Mitochondrial complex I deficiency, nuclear type 37 (MC1DN37) [MIM:619272] NDUFA8
Mitochondrial complex II deficiency, nuclear type 1 (MC2DN1) [MIM:252011] SDHA
Mitochondrial complex II deficiency, nuclear type 4 (MC2DN4) [MIM:619224] SDHB
Mitochondrial complex III deficiency, nuclear type 10 (MC3DN10) [MIM:618775] UQCRFS1
Mitochondrial complex III deficiency, nuclear type 5 (MC3DN5) [MIM:615160] UQCRC2
Mitochondrial complex III deficiency, nuclear type 6 (MC3DN6) [MIM:615453] CYC1
Mitochondrial complex IV deficiency, nuclear type 16 (MC4DN16) [MIM:619060] COX4I1
Mitochondrial complex IV deficiency, nuclear type 20 (MC4DN20) [MIM:619064] COX5A
Mitochondrial complex IV deficiency, nuclear type 7 (MC4DN7) [MIM:619051] COX6B1
Mitochondrial complex V deficiency, nuclear type 4A (MC5DN4A) [MIM:620358] ATP5F1A
Mitochondrial complex V deficiency, nuclear type 4B (MC5DN4B) [MIM:615228] ATP5F1A
Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] Mitochondrial complex I deficiency, nuclear type 20 (MC1DN20) [MIM:611126] ACAD9
Mitochondrial complex deficiency Mitochondrial complex I deficiency, mitochondrial type 1 (MC1DM1) [MIM:500014] MT-ND3
Mitochondrial complex I deficiency, nuclear type 1 (MC1DN1) [MIM:252010] NDUFS4
Mitochondrial complex I deficiency, nuclear type 12 (MC1DN12) [MIM:301020] NDUFA1
Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222] NDUFS8
Mitochondrial complex I deficiency, nuclear type 24 (MC1DN24) [MIM:618245] NDUFB9
Mitochondrial complex I deficiency, nuclear type 25 (MC1DN25) [MIM:618246] NDUFB3
Mitochondrial complex I deficiency, nuclear type 26 (MC1DN26) [MIM:618247] NDUFA9
Mitochondrial complex I deficiency, nuclear type 28 (MC1DN28) [MIM:618249] NDUFA13
Mitochondrial complex I deficiency, nuclear type 30 (MC1DN30) [MIM:301021] NDUFB11
Mitochondrial complex I deficiency, nuclear type 32 (MC1DN32) [MIM:618252] NDUFB8
Mitochondrial complex I deficiency, nuclear type 33 (MC1DN33) [MIM:618253] NDUFA6
Mitochondrial complex I deficiency, nuclear type 4 (MC1DN4) [MIM:618225] NDUFV1
Mitochondrial complex I deficiency, nuclear type 6 (MC1DN6) [MIM:618228] NDUFS2
Mitochondrial complex I deficiency, nuclear type 8 (MC1DN8) [MIM:618230] NDUFS3
Mitochondrial complex I deficiency, nuclear type 9 (MC1DN9) [MIM:618232] NDUFS6
Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] MT-CO2, MT-CO1
Mitochondrial complex V deficiency, nuclear type 3 (MC5DN3) [MIM:614053] ATP5F1E
Mitochondrial complex V deficiency, nuclear type 5 (MC5DN5) [MIM:618120] ATP5F1D
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] MT-ND6, MT-ND5, MT-ND1
Miyoshi muscular dystrophy Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130] DYSF
Monilethrix Monilethrix (MNLIX) [MIM:158000] KRT81, KRT83, KRT86
Mucopolysaccharidosis Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] GLB1
Muenke syndrome Muenke syndrome (MNKS) [MIM:602849] FGFR3
Multicentric osteolysis, nodulosis, and arthropathy Multicentric osteolysis, nodulosis, and arthropathy (MONA) [MIM:259600] MMP2
Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] PIGT
Multiple mitochondrial dysfunctions syndrome Multiple mitochondrial dysfunctions syndrome 4 (MMDS4) [MIM:616370] ISCA2
Multiple neoplasia Multiple neoplasia 2A (MEN2A) [MIM:171400] RET
Multiple neoplasia 2B (MEN2B) [MIM:162300] RET
Multiple self-healing squamous epithelioma Multiple self-healing squamous epithelioma (MSSE) [MIM:132800] TGFBR1
Multiple synostoses syndrome Multiple synostoses syndrome 1 (SYNS1) [MIM:186500] NOG
Muscular dystrophy, limb-girdle, autosomal recessive 28 (LGMDR28) [MIM:620375] Muscular dystrophy, limb-girdle, autosomal recessive 28 (LGMDR28) [MIM:620375] HMGCR
Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) [MIM:615350] GMPPB
Myasthenic syndrome Myasthenic syndrome, congenital, 17 (CMS17) [MIM:616304] LRP4
Myasthenic syndrome, congenital, 18 (CMS18) [MIM:616330] SNAP25
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325] MUSK
Myeloperoxidase deficiency Myeloperoxidase deficiency (MPOD) [MIM:254600] MPO
Myopathy Congenital myopathy 2B, severe infantile, autosomal recessive (CMYP2B) [MIM:620265] ACTA1
Congenital myopathy 2C, severe infantile, autosomal dominant (CMYP2C) [MIM:620278] ACTA1
Congenital myopathy 7A, myosin storage, autosomal dominant (CMYP7A) [MIM:608358] MYH7
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] HRAS
Myopathy, centronuclear, 2 (CNM2) [MIM:255200] BIN1
Myopathy, distal, 1 (MPD1) [MIM:160500] MYH7
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES
Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] CRYAB
Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883] ORAI1
Myopathy with sideroblastic anemia Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy (MEOAL) [MIM:251900] FDX2
Myopathy, lactic acidosis, and sideroblastic anemia 3 (MLASA3) [MIM:500011] MT-ATP6
N-terminal acetyltransferase deficiency N-terminal acetyltransferase deficiency (NATD) [MIM:300855] NAA10
Nabais Sa-de Vries syndrome Nabais Sa-de Vries syndrome 1 (NSDVS1) [MIM:618828] SPOP
Nabais Sa-de Vries syndrome 2 (NSDVS2) [MIM:618829] SPOP
Narcolepsy Narcolepsy 1 (NRCLP1) [MIM:161400] HCRT
Nemaline myopathy Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] ACTA1
Nemaline myopathy 5B, autosomal recessive, childhood-onset (NEM5B) [MIM:620386] TNNT1
Nephrogenic syndrome Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539] AVPR2
Nephrotic syndrome Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 (CHINE1) [MIM:301108] DKC1
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 (CHINE2) [MIM:620425] NOP10
Nephrotic syndrome 11 (NPHS11) [MIM:616730] NUP107
Nephrotic syndrome 12 (NPHS12) [MIM:616892] NUP93
Nephrotic syndrome 16 (NPHS16) [MIM:617783] KANK2
Nestor-Guillermo progeria syndrome Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008] BANF1
Neural tube defects (NTD) [MIM:182940] Neural tube defects (NTD) [MIM:182940] VANGL2
Neuroblastoma Neuroblastoma 3 (NBLST3) [MIM:613014] ALK
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807] RAB11B
Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia (NEDBASH) [MIM:618718] NTNG2
Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis (NEDBSS) [MIM:618590] PIGU
Neurodevelopmental disorder with brain, liver, and lung abnormalities Neurodevelopmental disorder with or without variable brain abnormalities (NEDBA) [MIM:618443] MAPK8IP3
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577] RAC3
Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) [MIM:619121] Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) [MIM:619121] SHMT2
Neurodevelopmental disorder with cerebellar hypoplasia and spasticity Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (NEDCHS) [MIM:618572] INTS8
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) [MIM:618760] VAMP2
Neurodevelopmental disorder with hypotonia, seizures, and absent language Neurodevelopmental disorder with microcephaly, ataxia, and seizures (NEDMAS) [MIM:617709] SARS1
Neurodevelopmental disorder with involuntary movements Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] GNAO1
Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures (NEDMHS) [MIM:619876] Neurodevelopmental disorder with microcephaly, hypotonia, nystagmus, and seizures (NEDMHS) [MIM:619876] CPSF3
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] GRIN1
Neurodevelopmental, jaw, eye, and digital syndrome Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) [MIM:618914] FBXW11
Neurofibromatosis Neurofibromatosis 1 (NF1) [MIM:162200] NF1
Schwannomatosis, vestibular (SWNV) [MIM:101000] NF2
Neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] NF1
Neuropathy Leukodystrophy, hypomyelinating, 12 (HLD12) [MIM:616683] VPS11
Neuronopathy, distal hereditary motor, autosomal dominant 2 (HMND2) [MIM:158590] HSPB8
Neuronopathy, distal hereditary motor, autosomal dominant 8 (HMND8) [MIM:600175] TRPV4
Neuronopathy, distal hereditary motor, autosomal recessive 10 (HMNR10) [MIM:620542] VRK1
Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] SPTLC1
Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640] SPTLC2
Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900] ELP1
Neuropathy, hereditary sensory and autonomic, 5 (HSAN5) [MIM:608654] NGF
Neuropathy, hereditary motor and sensory Neuropathy, hereditary motor and sensory, Okinawa type (HMSNO) [MIM:604484] TFG
Neutropenia Neutropenia, severe congenital 2, autosomal dominant (SCN2) [MIM:613107] GFI1
Neutropenia, severe congenital 8, autosomal dominant (SCN8) [MIM:618752] SRP54
Neutropenia, severe congenital 9, autosomal dominant (SCN9) [MIM:619813] CLPB
Neutrophil immunodeficiency syndrome Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) [MIM:608203] RAC2
Immunodeficiency, common variable, 13 (CVID13) [MIM:616873] IKZF1
Niemann-Pick disease Niemann-Pick disease C1 (NPC1) [MIM:257220] NPC1
Non-Hodgkin lymphoma Familial non-Hodgkin lymphoma (NHL) [MIM:605027] BRAF, CASP10
Noonan syndrome Noonan syndrome 1 (NS1) [MIM:163950] PTPN11
Noonan syndrome 11 (NS11) [MIM:618499] MRAS
Noonan syndrome 12 (NS12) [MIM:618624] RRAS2
Noonan syndrome 13 (NS13) [MIM:619087] MAPK1
Noonan syndrome 3 (NS3) [MIM:609942] KRAS
Noonan syndrome 4 (NS4) [MIM:610733] SOS1
Noonan syndrome 5 (NS5) [MIM:611553] RAF1
Noonan syndrome 6 (NS6) [MIM:613224] NRAS
Noonan syndrome 7 (NS7) [MIM:613706] BRAF
Noonan syndrome 8 (NS8) [MIM:615355] RIT1
Noonan syndrome-like disorder with loose anagen hair 1 (NSLH1) [MIM:607721] SHOC2
Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506] PPP1CB
Noonan syndrome 2 (NS2) [MIM:605275] Noonan syndrome 2 (NS2) [MIM:605275] LZTR1
Noonan-like syndrome Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] CBL
Obesity Developmental delay, dysmorphic facies, and brain anomalies (DEVDFB) [MIM:620535] U2AF2
Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] FBXW7
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] SPTBN1
Developmental delay, language impairment, and ocular abnormalities (DEVLO) [MIM:620141] ARPC4
Intellectual developmental disorder with language impairment and with or without autistic features (MRLIAF) [MIM:613670] FOXP1
Leptin deficiency (LEPD) [MIM:614962] LEP
Thrombocytopenia 8, with dysmorphic features and developmental delay (THC8) [MIM:620475] ACTB
Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886] Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886] NTRK2
Oculoectodermal syndrome Oculoectodermal syndrome (OES) [MIM:600268] KRAS
Ohdo syndrome Ohdo syndrome, X-linked (OHDOX) [MIM:300895] MED12
Olmsted syndrome 1 Olmsted syndrome 1 (OLMS1) [MIM:614594] TRPV3
Oocyte/zygote/embryo maturation arrest Oocyte/zygote/embryo maturation arrest 16 (OZEMA16) [MIM:617234] PADI6
Oocyte/zygote/embryo maturation arrest 20 (OZEMA20) [MIM:620383] MOS
Oocyte/zygote/embryo maturation arrest 21 (OZEMA21) [MIM:620610] CHEK1
Oocyte/zygote/embryo maturation arrest 14 (OZEMA14) [MIM:620276] Oocyte/zygote/embryo maturation arrest 14 (OZEMA14) [MIM:620276] CDC20
Ophthalmoplegia, external, with rib and vertebral anomalies Ophthalmoplegia, external, with rib and vertebral anomalies (EORVA) [MIM:618155] MYF5
Orofacial cleft Cleft palate with or without ankyloglossia, X-linked (CPX) [MIM:303400] TBX22
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] KDM1A
Dyskinesia with orofacial involvement, autosomal recessive (DSKOR) [MIM:619647] ADCY5
Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] BMP4
Osseous heteroplasia Progressive osseous heteroplasia (POH) [MIM:166350] GNAS
Osteogenesis imperfecta Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 (OIEDS1) [MIM:619115] COL1A1
Osteogenesis imperfecta 1 (OI1) [MIM:166200] COL1A1
Osteogenesis imperfecta 17 (OI17) [MIM:616507] SPARC
Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1, COL1A2
Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1, COL1A2
Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1
Osteoglophonic dysplasia Osteoglophonic dysplasia (OGD) [MIM:166250] FGFR1
Osteopetrosis autosomal Osteopetrosis, autosomal recessive 7 (OPTB7) [MIM:612301] TNFRSF11A
Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] Osteopetrosis, autosomal dominant 2 (OPTA2) [MIM:166600] CLCN7
Otopalatodigital syndrome Otopalatodigital syndrome 2 (OPD2) [MIM:304120] FLNA
Ovarian cancer Ovarian cancer (OC) [MIM:167000] CTNNB1, BRCA1, PIK3CA
Ovarian dysgenesis Ovarian dysgenesis 8 (ODG8) [MIM:618187] ESR2
PAPA syndrome PAPA syndrome (PAPAS) [MIM:604416] PSTPIP1
PHOAR2-enteropathy syndrome PHOAR2-enteropathy syndrome (PHOAR2E) [MIM:614441] SLCO2A1
Pachyonychia congenita Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16
Pachyonychia congenita 2 (PC2) [MIM:167210] KRT17
Pachyonychia congenita 3 (PC3) [MIM:615726] KRT6A
Pachyonychia congenita 4 (PC4) [MIM:615728] KRT6B
Paget disease of bone Paget disease of bone 3 (PDB3) [MIM:167250] SQSTM1
Palmoplantar keratoderma Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] GJB2
Palmoplantar keratoderma, non-epidermolytic, focal or diffuse (PPKNEFD) [MIM:615735] KRT6C
Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760] KRT25
Pancreatic cancer Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome (FAMMMPC) [MIM:606719] CDKN2A
Paraganglioma Pheochromocytoma/paraganglioma syndrome 2 (PPGL2) [MIM:601650] SDHAF2
Parietal foramina Parietal foramina 1 (PFM1) [MIM:168500] MSX2
Parkinson disease Parkinson disease (PARK) [MIM:168600] PRKN
Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601] SNCA
Parkinson disease 17 (PARK17) [MIM:614203] VPS35
Parkinson disease 2 (PARK2) [MIM:600116] PRKN
Parkinson disease 24, autosomal dominant (PARK24) [MIM:619491] PSAP
Parkinson disease 8 (PARK8) [MIM:607060] LRRK2
Paroxysmal extreme pain disorder Paroxysmal extreme pain disorder (PEXPD) [MIM:167400] SCN9A
Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] Periodic fever, familial, autosomal dominant (FPF) [MIM:142680] TNFRSF1A
Periventricular heterotopia Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201] NEDD4L
Periventricular nodular heterotopia 8 (PVNH8) [MIM:618185] Periventricular nodular heterotopia 8 (PVNH8) [MIM:618185] ARF1
Peroxisome biogenesis disorder Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370] PEX5
Perrault syndrome Perrault syndrome 3 (PRLTS3) [MIM:614129] CLPP
Perry syndrome Perry syndrome (PERRYS) [MIM:168605] DCTN1
Peutz-Jeghers syndrome Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] FGFR2, FGFR1
Pheochromocytoma (PCC) [MIM:171300] Pheochromocytoma (PCC) [MIM:171300] VHL, RET, MAX
Phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1
Pick disease of the brain (PIDB) [MIM:172700] Pick disease of the brain (PIDB) [MIM:172700] MAPT
Piebaldism Piebald trait (PBT) [MIM:172800] KIT
Pigmented adrenocortical disease Primary pigmented nodular adrenocortical disease 4 (PPNAD4) [MIM:615830] PRKACA
Pilomatrixoma Pilomatrixoma (PTR) [MIM:132600] CTNNB1
Pitt-Hopkins syndrome Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4
Pituitary adenoma 1, multiple types (PITA1) [MIM:102200] Pituitary adenoma 1, multiple types (PITA1) [MIM:102200] AIP
Pituitary hormone deficiency Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700] LHX4
Plasminogen deficiency Plasminogen deficiency (PLGD) [MIM:217090] PLG
Pneumothorax Primary spontaneous pneumothorax (PSP) [MIM:173600] FLCN
Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) [MIM:618732] Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) [MIM:618732] CSNK2B
Polycystic kidney disease Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095] PKD2
Tubulointerstitial kidney disease, autosomal dominant, 5 (ADTKD5) [MIM:617056] SEC61A1
Polycythemia vera Polycythemia vera (PV) [MIM:263300] JAK2
Polydactyly-macrocephaly syndrome Polydactyly-macrocephaly syndrome (PDMCS) [MIM:620712] MAX
Polymicrogyria Cortical dysplasia, complex, with other brain malformations 13 (CDCBM13) [MIM:614563] DYNC1H1
Pontocerebellar hypoplasia Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] EXOSC3
Pontocerebellar hypoplasia 1C (PCH1C) [MIM:616081] EXOSC8
Pontocerebellar hypoplasia 1D (PCH1D) [MIM:618065] EXOSC9
Pontocerebellar hypoplasia 2A (PCH2A) [MIM:277470] TSEN54
Pontocerebellar hypoplasia 2B (PCH2B) [MIM:612389] TSEN2
Pontocerebellar hypoplasia 2F (PCH2F) [MIM:617026] TSEN15
Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809] AMPD2
Pontocerebellar hypoplasia 14 (PCH14) [MIM:619301] Pontocerebellar hypoplasia 14 (PCH14) [MIM:619301] PPIL1
Premature chromatid separation trait Premature chromatid separation trait (PCS) [MIM:176430] BUB1B
Premature ovarian failure Premature ovarian failure 7 (POF7) [MIM:612964] NR5A1
Primary ciliary dyskinesia Ciliary dyskinesia, primary, 24 (CILD24) [MIM:615481] RSPH1
Progressive external ophthalmoplegia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131] POLG2
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070] DGUOK
Properdin deficiency Properdin deficiency (PFD) [MIM:312060] CFP
Propionic acidemia Propionic acidemia type I (PA-1) [MIM:606054] PCCA
Prostate cancer Prostate cancer (PC) [MIM:176807] EPHB2, CHEK2
Pseudohypoaldosteronism Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2
Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] WNK4
Pseudohypoaldosteronism 2E (PHA2E) [MIM:614496] CUL3
Pseudohypoparathyroidism Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS
Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] GNAS
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] GNAS
Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2
Pyropoikilocytosis Hereditary pyropoikilocytosis (HPP) [MIM:266140] SPTA1
RAS-associated autoimmune leukoproliferative disorder RAS-associated autoimmune leukoproliferative disorder (RALD) [MIM:614470] NRAS
Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR
Radioulnar synostosis with amegakaryocytic thrombocytopenia Thrombocytopenia 6 (THC6) [MIM:616937] SRC
Rapp-Hodgkin syndrome Rapp-Hodgkin syndrome (RHS) [MIM:129400] TP63
Refsum disease Autoinflammatory disease, systemic, with vasculitis (SAIDV) [MIM:620376] LYN
Charcot-Marie-Tooth disease, axonal, 2B (CMT2B) [MIM:600882] RAB7A
Charcot-Marie-Tooth disease, axonal, 2B1 (CMT2B1) [MIM:605588] LMNA
Charcot-Marie-Tooth disease, axonal, 2C (CMT2C) [MIM:606071] TRPV4
Charcot-Marie-Tooth disease, axonal, 2E (CMT2E) [MIM:607684] NEFL
Charcot-Marie-Tooth disease, axonal, 2F (CMT2F) [MIM:606595] HSPB1
Charcot-Marie-Tooth disease, axonal, 2O (CMT2O) [MIM:614228] DYNC1H1
Charcot-Marie-Tooth disease, axonal, 2R (CMT2R) [MIM:615490] TRIM2
Charcot-Marie-Tooth disease, axonal, 2W (CMT2W) [MIM:616625] HARS1
Charcot-Marie-Tooth disease, axonal, 2Y (CMT2Y) [MIM:616687] VCP
Inflammatory bowel disease 28, autosomal recessive (IBD28) [MIM:613148] IL10RA
Mahvash disease (MVAH) [MIM:619290] GCGR
Pyrin-associated autoinflammatory disease (PAAND) [MIM:608068] MEFV
Rajab interstitial lung disease with brain calcifications 1 (RILDBC1) [MIM:613658] FARSB
Sickle cell disease (SKCA) [MIM:603903] HBB
Von Willebrand disease, platelet-type (VWDP) [MIM:177820] GP1BA
Renal cell carcinoma Renal cell carcinoma (RCC) [MIM:144700] VHL
Renal cell carcinoma papillary (RCCP) [MIM:605074] MET
Renal tubular acidosis Renal tubular acidosis, distal, 4, with hemolytic anemia (DRTA4) [MIM:611590] SLC4A1
Renal tubular dysgenesis Renal tubular dysgenesis (RTD) [MIM:267430] AGTR1
Retinitis pigmentosa Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections (HIES6) [MIM:620532] STAT6
Retinitis pigmentosa 10 (RP10) [MIM:180105] IMPDH1
Retinitis pigmentosa 13 (RP13) [MIM:600059] PRPF8
Retinitis pigmentosa 18 (RP18) [MIM:601414] PRPF3
Retinitis pigmentosa 45 (RP45) [MIM:613767] CNGB1
Retinitis pigmentosa 62 (RP62) [MIM:614181] MAK
Retinitis pigmentosa 70 (RP70) [MIM:615922] PRPF4
Retinitis pigmentosa 72 (RP72) [MIM:616469] ZNF408
Retinitis pigmentosa 74 (RP74) [MIM:616562] BBS2
Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) [MIM:617763] EXOSC2
Retinitis pigmentosa 33 (RP33) [MIM:610359] Retinitis pigmentosa 33 (RP33) [MIM:610359] SNRNP200
Richieri-Costa-Pereira syndrome Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305] EIF4A3
Rickets Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR
Ring dermoid of cornea Ring dermoid of cornea (RDC) [MIM:180550] PITX2
Ritscher-Schinzel syndrome Ritscher-Schinzel syndrome 3 (RTSC3) [MIM:619135] VPS35L
Robinow syndrome, autosomal dominant 1 (DRS1) [MIM:180700] Robinow syndrome, autosomal dominant 1 (DRS1) [MIM:180700] WNT5A
Rothmund-Thomson syndrome Rothmund-Thomson syndrome 3 (RTS3) [MIM:615789] CRIPT
Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP
SHORT syndrome SHORT syndrome (SHORTS) [MIM:269880] PIK3R1
Skin creases, congenital symmetric circumferential, 1 (CSCSC1) [MIM:156610] TUBB
Skin creases, congenital symmetric circumferential, 2 (CSCSC2) [MIM:616734] MAPRE2
STING-associated vasculopathy STING-associated vasculopathy, infantile-onset (SAVI) [MIM:615934] STING1
Saethre-Chotzen syndrome Saethre-Chotzen syndrome (SCS) [MIM:101400] TWIST1
Scaphocephaly syndrome Familial scaphocephaly syndrome (FSPC) [MIM:609579] FGFR2
Schimmelpenning-Feuerstein-Mims syndrome Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200] KRAS, HRAS
Sclerosteosis Sclerosteosis 2 (SOST2) [MIM:614305] LRP4
Segawa syndrome Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH
Seizures Febrile seizures, familial, 8 (FEB8) [MIM:607681] GABRG2
Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A
Senior-Loken syndrome Senior-Loken syndrome 8 (SLSN8) [MIM:616307] WDR19
Severe combined immunodeficiency Immunodeficiency 15A (IMD15A) [MIM:618204] IKBKB
Immunodeficiency 43 (IMD43) [MIM:241600] B2M
Immunodeficiency 47 (IMD47) [MIM:300972] ATP6AP1
Immunodeficiency 48 (IMD48) [MIM:269840] ZAP70
Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450] DCLRE1C
Short QT syndrome Short QT syndrome 2 (SQT2) [MIM:609621] KCNQ1
Short QT syndrome 3 (SQT3) [MIM:609622] KCNJ2
Short stature Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] CFH
Hemolytic uremic syndrome, atypical, 3 (AHUS3) [MIM:612923] CFI
Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] C3
Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541] XRCC4
Short-rib thoracic dysplasia Short-rib thoracic dysplasia 18 with polydactyly (SRTD18) [MIM:617866] IFT43
Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) [MIM:613091] DYNC2H1
Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) [MIM:263520] NEK1
Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] SKI
Sick sinus syndrome Sick sinus syndrome 1 (SSS1) [MIM:608567] SCN5A
Sick sinus syndrome 2 (SSS2) [MIM:163800] HCN4
Singleton-Merten syndrome Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298] RIGI
Snijders Blok-Campeau syndrome Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] CHD3
Solitary median maxillary central incisor Solitary median maxillary central incisor (SMMCI) [MIM:147250] SHH
Spastic ataxia Spastic ataxia 2, autosomal recessive (SPAX2) [MIM:611302] KIF1C
Spastic paraplegia Spastic paraplegia 30 (SPG30) [MIM:610357] KIF1A
Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia (SPG91) [MIM:620538] Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia (SPG91) [MIM:620538] SPTAN1
Speech-language disorder 1 Speech-language disorder 1 (SPCH1) [MIM:602081] FOXP2
Spherocytosis Spherocytosis 4 (SPH4) [MIM:612653] SLC4A1
Spinal muscular atrophy Neurodegeneration with ataxia and late-onset optic atrophy (NDAXOA) [MIM:619259] SDHA
Neurodevelopmental disorder plus optic atrophy (NEDOA) [MIM:620784] SNF8
Scapuloperoneal spinal muscular atrophy (SPSMA) [MIM:181405] TRPV4
Spinal muscular atrophy 1 (SMA1) [MIM:253300] SMN2
Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] DYNC1H1
Spinal muscular atrophy, lower extremity-predominant 2A, childhood onset, autosomal dominant (SMALED2A) [MIM:615290] BICD2
Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD) [MIM:182980] VAPB
Spinocerebellar ataxia Spinocerebellar ataxia 19 (SCA19) [MIM:607346] KCND3
Spinocerebellar ataxia 41 (SCA41) [MIM:616410] TRPC3
Spinocerebellar ataxia 5 (SCA5) [MIM:600224] SPTBN2
Spinocerebellar ataxia, autosomal recessive, 31 (SCAR31) [MIM:619422] ATG7
Split-hand/foot malformation Split-hand/foot malformation 4 (SHFM4) [MIM:605289] TP63
Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia, Krakow type (SEMDK) [MIM:618162] SIK3
Spondyloepimetaphyseal dysplasia, short limb-hand type (SEMD-SL) [MIM:271665] DDR2
Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900] COL2A1
Spondylometaphyseal dysplasia Spondylometaphyseal dysplasia Kozlowski type (SMDK) [MIM:184252] TRPV4
Stormorken syndrome Stormorken syndrome (STRMK) [MIM:185070] STIM1
Striatonigral degeneration Mitochondrial infantile bilateral striatal necrosis (MIBSN) [MIM:500003] MT-ATP6
Sturge-Weber syndrome Sturge-Weber syndrome (SWS) [MIM:185300] GNAQ
Supranuclear palsy Progressive supranuclear palsy 1 (PSNP1) [MIM:601104] MAPT
Sveinsson chorioretinal atrophy Sveinsson chorioretinal atrophy (SCRA) [MIM:108985] TEAD1
Symphalangism Symphalangism, proximal 1B (SYM1B) [MIM:615298] GDF5
Systemic lupus erythematosus Systemic lupus erythematosus 17 (SLEB17) [MIM:301080] TLR7
Tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome (TCC) [MIM:186570] NOG
Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A
Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1 (TEBIVANED1) [MIM:619758] H4C16
Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3 (TEBIVANED3) [MIM:619950] H4C16
Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 4 (TEBIVANED4) [MIM:619951] H4C16
Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 2 (TEBIVANED2) [MIM:619759] Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 2 (TEBIVANED2) [MIM:619759] H4C16
Thalassemia Beta-thalassemia (B-THAL) [MIM:613985] HBB
Thanatophoric dysplasia Thanatophoric dysplasia 1 (TD1) [MIM:187600] FGFR3
Thanatophoric dysplasia 2 (TD2) [MIM:187601] FGFR3
Thrombocythemia Thrombocythemia 3 (THCYT3) [MIM:614521] JAK2
Thrombocytopenia Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies (THC11) [MIM:620654] RAP1B
Thrombophilia Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] F5
Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] SERPIND1
Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] PROC
Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) [MIM:612304] PROC
Thrombophilia, X-linked, due to factor IX defect (THPH8) [MIM:300807] F9
Thyroid dyshormonogenesis Selective pituitary thyroid hormone resistance (PRTH) [MIM:145650] THRB
Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] THRB
Tonne-Kalscheuer syndrome Tonne-Kalscheuer syndrome (TOKAS) [MIM:300978] RLIM
Treacher Collins syndrome Treacher Collins syndrome 2 (TCS2) [MIM:613717] POLR1D
Treacher Collins syndrome 3 (TCS3) [MIM:248390] POLR1C
Trichothiodystrophy Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS) [MIM:617099] OTULIN
Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2
Trichothiodystrophy 3, photosensitive (TTD3) [MIM:616395] GTF2H5
Triosephosphate isomerase deficiency Triosephosphate isomerase deficiency (TPID) [MIM:615512] TPI1
Tuberous sclerosis Tuberous sclerosis 2 (TSC2) [MIM:613254] TSC2
Tuberous sclerosis 1 (TSC1) [MIM:191100] Tuberous sclerosis 1 (TSC1) [MIM:191100] TSC1
UV-sensitive syndrome UV-sensitive syndrome 3 (UVSS3) [MIM:614640] UVSSA
Usher syndrome Usher syndrome 1G (USH1G) [MIM:606943] USH1G
Usmani-Riazuddin syndrome, autosomal Usmani-Riazuddin syndrome, autosomal dominant (USRISD) [MIM:619467] AP1G1
Usmani-Riazuddin syndrome, autosomal recessive (USRISR) [MIM:619548] AP1G1
Van Esch-O'Driscoll syndrome Van Esch-O'Driscoll syndrome (VEODS) [MIM:301030] POLA1
Ventricular tachycardia Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916] CALM1
Ventricular tachycardia, catecholaminergic polymorphic, 6 (CPVT6) [MIM:618782] CALM3
Verheij syndrome Verheij syndrome (VRJS) [MIM:615583] PUF60
Vissers-Bodmer syndrome (VIBOS) [MIM:619033] Vissers-Bodmer syndrome (VIBOS) [MIM:619033] CNOT1
Vohwinkel syndrome Vohwinkel syndrome (VOWNKL) [MIM:124500] GJB2
Von Hippel-Lindau disease Von Hippel-Lindau disease (VHLD) [MIM:193300] VHL
Von Willebrand disease Von Willebrand disease 3 (VWD3) [MIM:277480] VWF
Waardenburg syndrome Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3
Waardenburg syndrome 2A (WS2A) [MIM:193510] MITF
Waardenburg syndrome 2E (WS2E) [MIM:611584] SOX10
Waardenburg syndrome 3 (WS3) [MIM:148820] PAX3
Warburg-Cinotti syndrome Warburg-Cinotti syndrome (WRCN) [MIM:618175] DDR2
Weaver syndrome Weaver syndrome (WVS) [MIM:277590] EZH2
White sponge nevus White sponge nevus 1 (WSN1) [MIM:193900] KRT4
White-Kernohan syndrome White-Kernohan syndrome (WHIKERS) [MIM:619426] DDB1
Wilms tumor Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272] DICER1
Wilms tumor 1 (WT1) [MIM:194070] WT1
Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome (WPW) [MIM:194200] PRKAG2
Xeroderma pigmentosum Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] XPA
Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651] ERCC3
Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2
Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740] DDB2
Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] ERCC4
Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH
Zimmermann-Laband syndrome Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] KCNH1
Zinc deficiency Zinc deficiency, transient neonatal (TNZD) [MIM:608118] SLC30A2

[Show all]
Diseases with mutations on the two sides of the same interaction
DiseasePhenotypeRelevant interactions
3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] 3-methylcrotonoyl-CoA carboxylase 1 deficiency (MCC1D) [MIM:210200] (MCCC1,MCCC2)
3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] 3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D) [MIM:210210] (MCCC1,MCCC2)
ADULT syndrome Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285] (TP53,TP63)
Achondroplasia Achondroplasia (ACH) [MIM:100800] (FGFR2,FGFR3)
Achondroplasia, severe, with developmental delay and acanthosis nigricans (SADDAN) [MIM:616482] (FGFR2,FGFR3)
Achromatopsia Achromatopsia 2 (ACHM2) [MIM:216900] (CNGA3,CNGB3)
Achromatopsia 3 (ACHM3) [MIM:262300] Achromatopsia 3 (ACHM3) [MIM:262300] (CNGA3,CNGB3)
Acrodysostosis Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] (PRKAR1A,PRKACB), (PRKAR1A,PRKACA)
Acromesomelic dysplasia Acromesomelic dysplasia 2B (AMD2B) [MIM:228900] (GDF5,NOG), (GDF5,HJV)
Adenosine monophosphate deaminase deficiency Adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874] (AMPD3,AMPD2)
Adrenal hyperplasia ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080] (GNB1,GNAS), (AVPR2,GNAS)
Adrenal hypoplasia, congenital (AHC) [MIM:300200] (NR0B1,NR5A1)
Afibrinogenemia Congenital afibrinogenemia (CAFBN) [MIM:202400] (FGA,FGG), (FGB,FGG), (FGA,FGB), (F2,FGA)
Agammaglobulinemia X-linked agammaglobulinemia (XLA) [MIM:300755] (MET,BTK)
Age-related macular degeneration Macular degeneration, age-related, 3 (ARMD3) [MIM:608895] (EFEMP2,FBLN5)
Macular degeneration, age-related, 4 (ARMD4) [MIM:610698] (C3,CFH)
Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] (RNASEH2A,RNASEH2B), (RNASEH2B,RNASEH2C)
Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329] (RNASEH2A,RNASEH2C), (RNASEH2B,RNASEH2C)
Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333] (RNASEH2A,RNASEH2B), (RNASEH2A,RNASEH2C)
Alacrima, achalasia, and impaired intellectual development syndrome Alacrima, achalasia, and impaired intellectual development syndrome (AAMR) [MIM:615510] (GMPPA,GMPPB)
Alagille syndrome Alagille syndrome 1 (ALGS1) [MIM:118450] (JAG1,NOTCH3)
Alexander disease Alexander disease (ALXDRD) [MIM:203450] (GFAP,DES), (VIM,GFAP)
Alpha-thalassemia/impaired intellectual development syndrome, X-linked Alpha-thalassemia/impaired intellectual development syndrome, X-linked (ATRX) [MIM:301040] (ATRX,H3-3B)
Alzheimer disease Alzheimer disease 1 (AD1) [MIM:104300] (APP,PSEN1), (APP,PSEN2)
Alzheimer disease mitochondrial (AD-MT) [MIM:502500] (NDUFS8,MT-ND1), (NDUFS2,MT-ND1)
Alzheimer disease 3 (AD3) [MIM:607822] Alzheimer disease 3 (AD3) [MIM:607822] (APP,PSEN1)
Alzheimer disease 4 (AD4) [MIM:606889] Alzheimer disease 4 (AD4) [MIM:606889] (APP,PSEN2)
Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] (PFN1,ACTB)
Antithrombin III deficiency (AT3D) [MIM:613118] Antithrombin III deficiency (AT3D) [MIM:613118] (F9,SERPINC1), (F10,SERPINC1), (F2,SERPINC1)
Aortic aneurysm Aortic aneurysm, familial thoracic 6 (AAT6) [MIM:611788] (ACTA2,ACTA1), (ACTA2,ACTG2), (ACTA2,ACTC1)
Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] (CALM1,MYLK)
Apert syndrome Apert syndrome (APRS) [MIM:101200] (FGF10,FGFR2)
Arthrogryposis Arthrogryposis, distal, 11 (DA11) [MIM:620019] (MET,BTK)
Arthrogryposis, distal, 1A (DA1A) [MIM:108120] (TPM2,TPM1)
Arthrogryposis, distal, 2B4 (DA2B4) [MIM:108120] (TPM2,TPM1)
Atrial septal defect Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378] (SCN2B,SCN2A)
Atrial fibrillation, familial, 9 (ATFB9) [MIM:613980] (KCNJ18,KCNJ2)
Autism Diaphragmatic hernia 5, X-linked (DIH5) [MIM:306950] (PLS3,ACTB)
Autoimmune disease, multisystem, infantile-onset, Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (STAT3,STAT1), (RET,STAT3)
Coffin-Siris syndrome 4 (CSS4) [MIM:614609] (SMARCA4,CHD4)
Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] (CALM1,FAS), (FAS,FADD)
Baraitser-Winter syndrome Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] (ACTB,ACTA1)
Bardet-Biedl syndrome Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] (BBS1,BBS4)
Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] (BBS10,MKKS)
Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] (BBS7,BBS2)
Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] (BBS1,BBS4)
Bardet-Biedl syndrome 6 (BBS6) [MIM:605231] (BBS10,MKKS)
Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] (BBS7,BBS2)
Bart-Pumphrey syndrome Bart-Pumphrey syndrome (BAPS) [MIM:149200] (GJB2,GJA8), (GJB1,GJB2)
Basal cell nevus syndrome Becker nevus syndrome (BNS) [MIM:604919] (ACTN2,ACTB), (PLS3,ACTB)
Basal ganglia calcification, idiopathic, 8, autosomal recessive Basal ganglia calcification, idiopathic, 8, autosomal recessive (IBGC8) [MIM:618824] (JAM2,JAM3)
Beckwith-Wiedemann syndrome (BWS) [MIM:130650] Beckwith-Wiedemann syndrome (BWS) [MIM:130650] (CDK4,CDKN1C)
Bethlem myopathy Myopathy, scapulohumeroperoneal (SHPM) [MIM:616852] (ACTB,ACTA1)
Visceral myopathy 1 (VSCM1) [MIM:155310] (ACTA2,ACTG2), (ACTG2,ACTC1), (ACTG2,ACTA1)
Bladder cancer Bladder cancer (BLC) [MIM:109800] (FGFR2,FGFR3), (FGFR3,FGF9)
Bleeding disorder Bleeding disorder, platelet-type, 11 (BDPLT11) [MIM:614201] (COL1A1,GP6)
Bleeding disorder, platelet-type, 16 (BDPLT16) [MIM:187800] (ITGB3,ITGA2B)
Bleeding disorder, platelet-type, 18 (BDPLT18) [MIM:615888] (RAP1B,RASGRP2)
Bleeding disorder, platelet-type, 24 (BDPLT24) [MIM:619271] (ITGB3,ITGA2B)
Brachydactyly Brachydactyly A1 (BDA1) [MIM:112500] (IHH,SHH)
Brachydactyly A1, C (BDA1C) [MIM:615072] (GDF5,NOG), (GDF5,HJV)
Brachydactyly B2 (BDB2) [MIM:611377] (GDF5,NOG)
Brachydactyly C (BDC) [MIM:113100] (GDF5,BMPR2), (GDF5,NOG)
Breast cancer Breast cancer (BC) [MIM:114480] (PIK3R1,PIK3CA), (PIK3R2,PIK3CA)
Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399] (RAD51C,RAD51)
Brody myopathy Brody disease (BROD) [MIM:601003] (ATP2A1,ATP2A2)
Bronchiectasis Bronchiectasis with or without elevated sweat chloride 1 (BESC1) [MIM:211400] (SCNN1A,SCNN1B)
Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM:613021] (SCNN1A,SCNN1B)
Brugada syndrome Brugada syndrome 1 (BRGDA1) [MIM:601144] (CALM1,SCN5A)
Bryant-Li-Bhoj neurodevelopmental syndrome Bryant-Li-Bhoj neurodevelopmental syndrome 2 (BRYLIB2) [MIM:619721] (ATRX,H3-3B), (H4C16,H3-3B), (H3-3B,DNMT3A)
Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] Bryant-Li-Bhoj neurodevelopmental syndrome 1 (BRYLIB1) [MIM:619720] (ATRX,H3-3B), (H4C16,H3-3B), (H3-3B,DNMT3A)
CLAPO syndrome CLAPO syndrome (CLAPO) [MIM:613089] (PIK3R1,PIK3CA), (PIK3R2,PIK3CA)
CLOVE syndrome Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] (PIK3R1,PIK3CA), (PIK3R2,PIK3CA)
Camptodactyly tall stature and hearing loss syndrome Camptodactyly, tall stature, and hearing loss syndrome (CATSHLS) [MIM:610474] (FGFR2,FGFR3)
Cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] (NRAS,BRAF), (BRAF,YWHAG)
Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] (KRAS,SOS1), (KRAS,NF1)
Cardiomyopathy Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] (LMNA,LMNB2), (LMNA,LMNB1), (BANF1,LMNA), (KRT6A,LMNA)
Cardiomyopathy, dilated, 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158] (ACTN2,ACTB)
Cardiomyopathy, dilated, 1D (CMD1D) [MIM:601494] (TPM1,TNNT2)
Cardiomyopathy, dilated, 1FF (CMD1FF) [MIM:613286] (TNNI3,TNNC1), (CALM2,TNNI3), (TNNI3,TNNT2)
Cardiomyopathy, dilated, 1GG (CMD1GG) [MIM:613642] (SDHB,SDHA)
Cardiomyopathy, dilated, 1II (CMD1II) [MIM:615184] (CRYAA,CRYAB)
Cardiomyopathy, dilated, 1R (CMD1R) [MIM:613424] (ACTA2,ACTC1), (ACTC1,ACTA1), (ACTG2,ACTC1)
Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] (MYL3,MYH7), (MYH7,ACTC1)
Cardiomyopathy, dilated, 1Z (CMD1Z) [MIM:611879] (TNNI3,TNNC1)
Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112] (LMNA,LMNB2), (LMNA,LMNB1)
Cardiomyopathy, familial hypertrophic, 10 (CMH10) [MIM:608758] (MYL2,MYH7)
Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098] (ACTC1,ACTA1), (ACTA2,ACTC1), (ACTG2,ACTC1), (MYH7,ACTC1), (TPM1,ACTC1)
Cardiomyopathy, familial hypertrophic, 13 (CMH13) [MIM:613243] (TNNI3,TNNC1), (TNNT2,TNNC1)
Cardiomyopathy, familial hypertrophic, 2 (CMH2) [MIM:115195] (TPM1,TNNT2), (TNNT2,TNNC1), (TNNI3,TNNT2)
Cardiomyopathy, familial hypertrophic, 23, with or without left ventricular non-compaction (CMH23) [MIM:612158] (ACTN2,ACTB)
Cardiomyopathy, familial hypertrophic, 3 (CMH3) [MIM:115196] (TPM2,TPM1), (TPM1,ACTC1)
Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] (TNNI3,TNNC1), (CALM2,TNNI3), (TNNC2,TNNI3)
Cardiomyopathy, familial hypertrophic, 8 (CMH8) [MIM:608751] (MYL3,MYH7)
Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] (TNNI3,TNNC1), (CALM2,TNNI3), (TNNC2,TNNI3)
Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] (MYH7,XRCC4), (MYL3,MYH7), (MYH7,ACTC1), (MYL2,MYH7)
Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] Cardiomyopathy, familial hypertrophic, 4 (CMH4) [MIM:115197] (ACTG1,MYBPC3)
Carney complex Carney complex 1 (CNC1) [MIM:160980] (PRKAR1A,PRKAR1B)
Cataract Cataract 30, multiple types (CTRCT30) [MIM:116300] (VIM,GFAP)
Cataract 31, multiple types (CTRCT31) [MIM:605387] (CHMP4B,CHMP2B)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] (POLG,POLG2)
Cataract 1, multiple types (CTRCT1) [MIM:116200] Cataract 1, multiple types (CTRCT1) [MIM:116200] (GJB2,GJA8)
Cataract 9, multiple types (CTRCT9) [MIM:604219] Cataract 9, multiple types (CTRCT9) [MIM:604219] (CRYAA,HSPB1), (CRYAA,CRYAB)
Cerebellar atrophy, visual impairment, and psychomotor retardation Cerebellar ataxia, brain abnormalities, and cardiac conduction defects (CABAC) [MIM:619576] (EXOSC5,EXOSC3)
Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures (NEDHCAS) [MIM:618879] (GPAA1,PIGK)
Cerebral amyloid angiopathy Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP,PSEN1), (APP,PSEN2)
Cerebral arteriopathy Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 1 (CADASIL1) [MIM:125310] (JAG1,NOTCH3)
Cerebral cavernous malformations Cerebral cavernous malformations 4 (CCM4) [MIM:619538] (PIK3R1,PIK3CA), (PIK3R2,PIK3CA)
Cerebrooculofacioskeletal syndrome Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) [MIM:610758] (ERCC1,ERCC4)
Cerebroretinal microangiopathy with calcifications and cysts Cerebroretinal microangiopathy with calcifications and cysts 1 (CRMCC1) [MIM:612199] (CTC1,STN1)
Cerebroretinal microangiopathy with calcifications and cysts 2 (CRMCC2) [MIM:617341] (CTC1,STN1)
Cervical cancer Cervical cancer (CERCA) [MIM:603956] (FGFR3,FGF9)
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] (GJB1,GJB2)
Charcot-Marie-Tooth disease, demyelinating, 1H (CMT1H) [MIM:619764] (EFEMP2,FBLN5)
Charcot-Marie-Tooth disease, demyelinating, 1I (CMT1I) [MIM:619742] (POLR3A,POLR3B)
Chronic granulomatous disease Granulomatous disease, chronic, X-linked (CGDX) [MIM:306400] (CYBB,RAC1), (CYBB,NCF2)
Granulomatous disease, chronic, autosomal recessive, 2 (CGD2) [MIM:233710] (NCF2,RAC1), (CYBB,NCF2)
Coagulation factor deficiency Factor II deficiency (FA2D) [MIM:613679] (F2,PROC), (F2,SERPIND1), (F2,SERPINC1), (F2,F5), (F2,GP1BA), (F2,FGB), (F2,FGA)
Factor VII deficiency (FA7D) [MIM:227500] (F7,POGLUT1)
Coffin-Lowry syndrome Coffin-Lowry syndrome (CLS) [MIM:303600] (MAPK1,RPS6KA3)
Cohen-Gibson syndrome Cohen-Gibson syndrome (COGIS) [MIM:617561] (EED,EZH2)
Colorectal cancer Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] (HRAS,NF1), (HRAS,SOS1)
Colorectal cancer (CRC) [MIM:114500] Colorectal cancer (CRC) [MIM:114500] (PIK3R1,PIK3CA), (BRAF,YWHAG), (PIK3R2,PIK3CA)
Combined immunodeficiency Immunodeficiency 98 with autoinflammation, X-linked (IMD98) [MIM:301078] (TLR8,TLR7)
Combined oxidative phosphorylation Combined oxidative phosphorylation deficiency 30 (COXPD30) [MIM:616974] (TRMT10C,HSD17B10)
Combined oxidative phosphorylation deficiency Combined oxidative phosphorylation deficiency 19 (COXPD19) [MIM:615595] (LYRM4,NFS1)
Combined oxidative phosphorylation deficiency 36 (COXPD36) [MIM:617950] (MRPS2,MRPS23), (MRPS28,MRPS2)
Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2 (HUMOP2) [MIM:620085] (ATP5F1B,ATP5F1A)
Combined oxidative phosphorylation deficiency II Combined oxidative phosphorylation deficiency 46 (COXPD46) [MIM:618952] (MRPS2,MRPS23)
Combined oxidative phosphorylation deficiency 47 (COXPD47) [MIM:618958] (MRPS28,MRPS2)
Combined oxidative phosphorylation deficiency 52 (COXPD52) [MIM:619386] (LYRM4,NFS1), (FXN,NFS1)
Complement component deficiency C1q deficiency 2 (C1QD2) [MIM:620321] (C1QB,C1QC)
C1q deficiency 3 (C1QD3) [MIM:620322] (C1QB,C1QC)
Metachromatic leukodystrophy due to saposin B deficiency (MLDSAPB) [MIM:249900] (GLA,PSAP)
Complement factors deficiency Complement factor H deficiency (CFHD) [MIM:609814] (CFI,CFH), (C3,CFH)
Cone-rod dystrophy Cone dystrophy retinal 3B (RCD3B) [MIM:610356] (KCNC1,KCNV2), (KCNB1,KCNV2)
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] (PCYT1A,NMNAT1)
Congenital clubfoot Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) [MIM:119800] (MSX2,PITX1)
Congenital heart defects Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159] (SMARCA4,CHD4)
Takenouchi-Kosaki syndrome (TKS) [MIM:616737] (WAS,CDC42)
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (ACTN2,ACTB), (PLS3,ACTB)
Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] (KRT2,KRT12), (DES,KRT12), (KRT5,KRT12)
Cornelia de Lange syndrome Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470] (SMC1A,NIPBL)
Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] (SMC1A,NIPBL)
Cornelia de Lange syndrome 4 with or without midline brain defects (CDLS4) [MIM:614701] (RAD21,STAG2), (RAD21,STAG1)
Cortical dysplasia complex with other brain malformations Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039] (TUBB3,TUBA1A)
Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) [MIM:615763] (TUBB,TUBB2A)
Cortical dysplasia, complex, with other brain malformations 6 (CDCBM6) [MIM:615771] (TUBB,TUBA1A), (TUBB,TUBB2B), (TUBB,TUBB4B), (TUBB,TUBB2A)
Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [MIM:610031] (TUBB,TUBB2B)
Cowden disease Cowden syndrome 5 (CWS5) [MIM:615108] (PIK3R1,PIK3CA), (PIK3R2,PIK3CA)
Cowden syndrome 6 (CWS6) [MIM:615109] (PRKACA,AKT1)
Craniosynostosis Craniosynostosis 3 (CRS3) [MIM:615314] (MAX,TCF12)
Crouzon syndrome Crouzon syndrome (CS) [MIM:123500] (FGFR2,FGFR3), (FGF10,FGFR2), (FGFR1,FGFR2)
Cutis laxa Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100] (EFEMP2,FBLN5)
Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] (EFEMP2,FBLN5)
Darier disease Darier disease (DD) [MIM:124200] (ATP2A1,ATP2A2)
Deafness Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] (ACTG1,MYBPC3)
Deafness, autosomal dominant, 3A (DFNA3A) [MIM:601544] (GJB2,GJA8), (GJB1,GJB2)
Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] (GJB2,GJA8), (GJB1,GJB2)
Hypokalemic tubulopathy and deafness (HKTD) [MIM:619406] (KCNJ10,KCNJ16)
Leukodystrophy, hypomyelinating, 21 (HLD21) [MIM:619310] (POLR3A,POLR3K)
Seizures, sensorineural deafness, ataxia, impaired intellectual development, and electrolyte imbalance (SESAMES) [MIM:612780] (KCNJ10,KCNJ16)
Dehydrated hereditary stomatocytosis 2 Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689] (KCNN4,CALM1)
Dementia Frontotemporal dementia (FTD) [MIM:600274] (MAPT,TUBA1A), (APP,PSEN1), (MAPT,TUBB3)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] (OPTN,TBK1)
Diabetes insipidus Diabetes insipidus, nephrogenic, 1, X-linked (NDI1) [MIM:304800] (AVPR2,GNB1), (AVP,AVPR2), (AVPR2,GNAS)
Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] (AVP,AVPR2)
Diabetes mellitus Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] (ABCC8,KCNJ11)
Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] (ABCC8,KCNJ11)
Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] (INS,INSR), (INS,IGF1R)
Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] (INSR,IGF1R), (INS,INSR)
Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582] (ABCC8,KCNJ11)
Dowling-Degos disease Dowling-Degos disease 4 (DDD4) [MIM:615696] (F7,POGLUT1)
Dysfibrinogenemia Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] (FGA,FGG), (FGB,FGG), (FGA,FGB), (F2,FGB), (F2,FGA)
Dyskeratosis congenita Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] (DKC1,NOP10)
Dyskeratosis congenita, autosomal recessive, 1 (DKCB1) [MIM:224230] (DKC1,NOP10)
Dystonia Epilepsy, progressive myoclonic 9 (EPM9) [MIM:616540] (LMNB1,LMNB2)
Dystonia-deafness syndrome 1 Dystonia-deafness syndrome 1 (DDS1) [MIM:607371] (ACTB,ACTA1)
Ectodermal dysplasia Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD10B) [MIM:224900] (EDA,EDAR)
Ectodermal dysplasia and immunodeficiency 2 (EDAID2) [MIM:612132] (NFKBIA,FBXW11)
Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] Ectodermal dysplasia 1, hypohidrotic, X-linked (XHED) [MIM:305100] (EDA,EDAR)
Ehlers-Danlos syndrome Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] (COL3A1,SPARC)
Elliptocytosis Elliptocytosis 2 (EL2) [MIM:130600] (SPTA1,SPTB)
Elliptocytosis 3 (EL3) [MIM:617948] (SPTA1,SPTB), (SPTB,SPTAN1)
Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:616516] (LMNA,LMNB2), (LMNA,LMNB1)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] (KRT6A,LMNA), (LMNA,LMNB1), (LMNA,LMNB2), (BANF1,LMNA)
Encephalocraniocutaneous lipomatosis Encephalocraniocutaneous lipomatosis (ECCL) [MIM:613001] (FGFR1,FGFR2)
Enhanced S cone syndrome Enhanced S cone syndrome (ESCS) [MIM:268100] (PPARG,NR2E3)
Epidermolysis bullosa Epidermolysis bullosa simplex 1A, generalized severe (EBS1A) [MIM:131760] (KRT14,KRT2), (KRT14,DES), (KRT14,KRT5), (KRT14,KRT81), (KRT86,KRT14), (KRT14,KRT4), (KRT14,KRT6A), (KRT14,KRT3)
Epidermolysis bullosa simplex 1B, generalized intermediate (EBS1B) [MIM:131900] (KRT14,KRT2), (KRT14,DES), (KRT14,KRT5), (KRT14,KRT81), (KRT86,KRT14), (KRT14,KRT4), (KRT14,KRT6A), (KRT14,KRT3)
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14,KRT2), (KRT14,DES), (KRT14,KRT5), (KRT14,KRT81), (KRT86,KRT14), (KRT14,KRT4), (KRT14,KRT6A), (KRT14,KRT3)
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive (EBS1D) [MIM:601001] (KRT14,KRT2), (KRT14,DES), (KRT14,KRT5), (KRT14,KRT81), (KRT86,KRT14), (KRT14,KRT4), (KRT14,KRT6A), (KRT14,KRT3)
Epidermolysis bullosa simplex 2A, generalized severe (EBS2A) [MIM:619555] (KRT16,KRT5), (KRT14,KRT5), (KRT5,KRT12), (KRT5,KRT17), (KRT5,KRT25), (KRT5,DES)
Epidermolysis bullosa simplex 2B, generalized intermediate (EBS2B) [MIM:619588] (KRT16,KRT5), (KRT14,KRT5), (KRT5,KRT12), (KRT5,KRT17), (KRT5,DES), (KRT5,KRT25)
Epidermolysis bullosa simplex 2C, localized (EBS2C) [MIM:619594] (KRT16,KRT5), (KRT14,KRT5), (KRT5,KRT12), (KRT5,KRT17), (KRT5,KRT25), (KRT5,DES)
Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive (EBS2D) [MIM:619599] (KRT16,KRT5), (KRT14,KRT5), (KRT5,KRT12), (KRT5,KRT17), (KRT5,DES), (KRT5,KRT25)
Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] (KRT1,KRT10), (KRT1,DES)
Epidermolytic hyperkeratosis 2A (EHK2A) [MIM:620150] (KRT1,KRT10)
Epilepsy Developmental and epileptic encephalopathy 104 (DEE104) [MIM:619970] (ATP6V0C,ATP6V0A1)
Developmental and epileptic encephalopathy 11 (DEE11) [MIM:613721] (SCN2B,SCN2A)
Developmental and epileptic encephalopathy 19 (DEE19) [MIM:615744] (GABRA1,GABRB1), (GABRA1,GABRG2), (GABRA1,GABRB2), (GABRA1,GABRB3)
Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] (HCN1,HCN2)
Developmental and epileptic encephalopathy 26 (DEE26) [MIM:616056] (KCNH1,KCNB1), (KCNB1,KCNV2)
Developmental and epileptic encephalopathy 27 (DEE27) [MIM:616139] (GRIN1,GRIN2B)
Developmental and epileptic encephalopathy 4 (DEE4) [MIM:612164] (STX1B,STXBP1)
Developmental and epileptic encephalopathy 43 (DEE43) [MIM:617113] (GABRA1,GABRB3), (GABRB3,GABRA2), (GABRB3,GABRA5), (GABRG2,GABRB3)
Developmental and epileptic encephalopathy 45 (DEE45) [MIM:617153] (GABRA1,GABRB1), (GABRB1,GABRA2), (GABRB1,GABRG2)
Developmental and epileptic encephalopathy 46 (DEE46) [MIM:617162] (GRIN2D,GRIN1)
Developmental and epileptic encephalopathy 47 (DEE47) [MIM:617166] (FGF12,SCN5A), (SCN1A,FGF12)
Developmental and epileptic encephalopathy 5 (DEE5) [MIM:613477] (SPTBN1,SPTAN1), (SPTBN2,SPTAN1)
Developmental and epileptic encephalopathy 56 (DEE56) [MIM:617665] (YWHAG,LRRK2), (RAF1,YWHAG), (BRAF,YWHAG), (MAPT,YWHAG)
Developmental and epileptic encephalopathy 7 (DEE7) [MIM:613720] (KCNQ2,CALM1), (KCNQ2,CALM3)
Developmental and epileptic encephalopathy 74 (DEE74) [MIM:618396] (GABRG2,GABRA5), (GABRA1,GABRG2), (GABRG2,GABRB2), (GABRG2,GABRB3), (GABRB1,GABRG2)
Developmental and epileptic encephalopathy 78 (DEE78) [MIM:618557] (GABRA2,GABRB2), (GABRB1,GABRA2), (GABRB3,GABRA2)
Developmental and epileptic encephalopathy 79 (DEE79) [MIM:618559] (GABRG2,GABRA5), (GABRB3,GABRA5)
Dravet syndrome (DRVT) [MIM:607208] (SCN1A,FGF12)
Epilepsy, childhood absence 2 (ECA2) [MIM:607681] (GABRG2,GABRA5), (GABRG2,GABRB2), (GABRB1,GABRG2), (GABRG2,GABRB3)
Epilepsy, childhood absence 5 (ECA5) [MIM:612269] (GABRB3,GABRA2), (GABRG2,GABRB3)
Epilepsy, idiopathic generalized 17 (EIG17) [MIM:602477] (HCN1,HCN2)
Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513] (CHRNB2,CHRNA4)
Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375] (CHRNB2,CHRNA4)
Epilepsy, progressive myoclonic 7 (EPM7) [MIM:616187] (KCNC1,KCNV2)
Generalized epilepsy with febrile seizures plus 10 (GEFSP10) [MIM:618482] (HCN1,HCN2)
Generalized epilepsy with febrile seizures plus 2 (GEFSP2) [MIM:604403] (SCN1A,FGF12)
Generalized epilepsy with febrile seizures plus 3 (GEFSP3) [MIM:607681] (GABRG2,GABRA5), (GABRG2,GABRB2), (GABRG2,GABRB3), (GABRB1,GABRG2)
Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] (STX1B,STXBP1)
Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] (SCN1A,FGF12)
Juvenile myoclonic epilepsy 5 (EJM5) [MIM:611136] (GABRA1,GABRG2), (GABRA1,GABRB2), (GABRA1,GABRB3)
Epilepsy, early-onset, 3, with or without developmental delay (EPEO3) [MIM:620465] Epilepsy, early-onset, 3, with or without developmental delay (EPEO3) [MIM:620465] (ATP6V0C,ATP6V0A1)
Epileptic encephalopathy Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829] (GABRA2,GABRB2), (GABRG2,GABRB2), (GABRA1,GABRB2)
Erythrocytosis Erythrocytosis, familial, 3 (ECYT3) [MIM:609820] (EPAS1,EGLN1)
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EPAS1,EGLN1), (VHL,EPAS1)
Exudative vitreoretinopathy Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] (NDP,FZD4)
Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] (NDP,FZD4)
Fabry disease Fabry disease (FD) [MIM:301500] (GLA,PSAP)
Faciocutaneoskeletal syndrome Costello syndrome (CSTLO) [MIM:218040] (HRAS,NF1), (HRAS,SOS1)
Factor X deficiency (FA10D) [MIM:227600] Factor X deficiency (FA10D) [MIM:227600] (F10,SERPINC1)
Factor XIII subunit A deficiency (FA13AD) [MIM:613225] Factor XIII subunit A deficiency (FA13AD) [MIM:613225] (F13A1,F13B)
Factor XIII subunit B deficiency (FA13BD) [MIM:613235] Factor XIII subunit B deficiency (FA13BD) [MIM:613235] (F13A1,F13B)
Familial hyperproinsulinemia Hyperproinsulinemia (HPRI) [MIM:616214] (INS,INSR), (INS,IGF1R)
Fanconi anemia Fanconi anemia complementation group Q (FANCQ) [MIM:615272] (ERCC1,ERCC4)
Fanconi anemia, complementation group R (FANCR) [MIM:617244] (RAD51C,RAD51)
Faundes-Banka syndrome Faundes-Banka syndrome (FABAS) [MIM:619376] (DHPS,EIF5A)
Feingold syndrome Feingold syndrome 1 (FGLDS1) [MIM:164280] (MYCN,MAX)
Fibrosis of extraocular muscles Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638] (MAPT,TUBB3)
Focal cortical dysplasia 2 (FCORD2) [MIM:607341] Focal cortical dysplasia 2 (FCORD2) [MIM:607341] (TSC2,TSC1)
Friedreich ataxia Friedreich ataxia (FRDA) [MIM:229300] (FXN,NFS1)
Frontotemporal Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7) [MIM:600795] (CHMP4B,CHMP2B)
GM1/2-gangliosidosis GM1-gangliosidosis 1 (GM1G1) [MIM:230500] (CTSA,GLB1)
GM1-gangliosidosis 2 (GM1G2) [MIM:230600] (CTSA,GLB1)
GM2-gangliosidosis 1 (GM2G1) [MIM:272800] (HEXA,HEXB)
GM2-gangliosidosis 2 (GM2G2) [MIM:268800] (HEXA,HEXB)
Galactosialidosis Galactosialidosis (GSL) [MIM:256540] (CTSA,GLB1)
Galloway-Mowat syndrome Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] (TP53RK,OSGEP)
Galloway-Mowat syndrome 4 (GAMOS4) [MIM:617730] (TP53RK,OSGEP)
Gastric cancer Gastric cancer (GASC) [MIM:613659] (KRAS,NF1), (KRAS,SOS1)
Germ cell tumor Testicular germ cell tumor (TGCT) [MIM:273300] (FGFR2,FGFR3)
Glanzmann thrombasthenia Glanzmann thrombasthenia 1 (GT1) [MIM:273800] (ITGB3,ITGA2B)
Glanzmann thrombasthenia 2 (GT2) [MIM:619267] (ITGB3,ITGA2B)
Glaucoma 1, open angle, E (GLC1E) [MIM:137760] Glaucoma 1, open angle, E (GLC1E) [MIM:137760] (OPTN,TBK1)
Glioma (GLM) [MIM:137800] Glioma (GLM) [MIM:137800] (H3C12,EZH2), (KDM6B,H3C12)
Glomerulocystic kidney disease Renal cysts and diabetes syndrome (RCAD) [MIM:137920] (HNF1A,HNF1B)
Glucocorticoid resistance, generalized (GCCR) [MIM:615962] Glucocorticoid resistance, generalized (GCCR) [MIM:615962] (NR3C1,NR3C2)
Glutaric aciduria Glutaric aciduria 2A (GA2A) [MIM:231680] (ETFA,ETFB)
Glutaric aciduria 2B (GA2B) [MIM:231680] (ETFA,ETFB)
Glycosylphosphatidylinositol biosynthesis defect Glycosylphosphatidylinositol biosynthesis defect 15 (GPIBD15) [MIM:617810] (GPAA1,PIGU), (GPAA1,PIGK)
Griscelli syndrome Griscelli syndrome 2 (GS2) [MIM:607624] (RAB27A,MLPH)
Griscelli syndrome 3 (GS3) [MIM:609227] (RAB27A,MLPH)
Growth hormone deficiency Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] (GH1,PRLR), (GH1,GHR)
Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100] (GH1,PRLR), (GH1,GHR)
Growth hormone insensitivity Growth hormone insensitivity, partial (GHIP) [MIM:604271] (GH1,GHR)
Growth retardation Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] (CSNK2B,CSNK2A1)
HSD10 mitochondrial disease (HSD10MD) [MIM:300438] HSD10 mitochondrial disease (HSD10MD) [MIM:300438] (TRMT10C,HSD17B10)
Hartnup disorder Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] (GRIN1,GRIN2A)
Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] (AFG2A,AFG2B)
Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities (NEDHSB) [MIM:616577] (AFG2A,AFG2B)
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) [MIM:619854] (GNB1,GNAI1)
Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] (GRIA2,GRIA3)
Neurodevelopmental disorder with or without variable movement or behavioral abnormalities (NEDMAB) [MIM:619725] (CALM1,KCNN2)
Hartsfield syndrome Hartsfield syndrome (HRTFDS) [MIM:615465] (FGFR1,FGF9), (FGFR1,FGFR2)
Heimler syndrome Heimler syndrome 1 (HMLR1) [MIM:234580] (PEX1,PEX6)
Heimler syndrome 2 (HMLR2) [MIM:616617] (PEX1,PEX6)
Hemifacial myohyperplasia Hemifacial myohyperplasia (HFMH) [MIM:606773] (PIK3R1,PIK3CA), (PIK3R2,PIK3CA)
Hemochromatosis Hemochromatosis 2A (HFE2A) [MIM:602390] (GDF5,HJV)
Hemochromatosis 2B (HFE2B) [MIM:613313] (HAMP,SLC40A1)
Hemochromatosis 4 (HFE4) [MIM:606069] (HAMP,SLC40A1)
Hemophilia A (HEMA) [MIM:306700] Hemophilia A (HEMA) [MIM:306700] (F8,F9), (F8,VWF)
Hemophilia B (HEMB) [MIM:306900] Hemophilia B (HEMB) [MIM:306900] (F8,F9), (F9,SERPINC1)
Hemorrhagic destruction of the brain with subependymal calcification and cataracts Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC) [MIM:613730] (JAM2,JAM3)
Hepatocellular carcinoma Hepatocellular carcinoma (HCC) [MIM:114550] (PIK3R1,PIK3CA), (PIK3R2,PIK3CA), (MET,BTK)
Hirschsprung disease Hirschsprung disease 1 (HSCR1) [MIM:142623] (RET,ALK), (RET,MAPK1), (RET,GDNF), (RET,STAT3)
Hirschsprung disease 3 (HSCR3) [MIM:613711] (RET,GDNF)
Holoprosencephaly 3 (HPE3) [MIM:142945] Holoprosencephaly 3 (HPE3) [MIM:142945] (IHH,SHH)
Houge-Janssens syndrome Houge-Janssens syndrome 1 (HJS1) [MIM:616355] (PPP2CA,PPP2R5D)
Houge-Janssens syndrome 3 (HJS3) [MIM:618354] (PPP2CA,PPP2R5D), (PPP2CA,PTPA)
Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] (LMNA,LMNB2), (LMNA,LMNB1), (BANF1,LMNA)
Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] (PIK3R1,STAT3)
Hypercholesterolemia Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] (LDLR,PCSK9)
Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776] (LDLR,PCSK9)
Hyperekplexia Hyperekplexia 1 (HKPX1) [MIM:149400] (GLRA1,GLRB)
Hyperekplexia 2 (HKPX2) [MIM:614619] (GLRA1,GLRB), (GLRA2,GLRB)
Hyperinsulinemic hypoglycemia Hyperinsulinemic hypoglycemia, familial, 1 (HHF1) [MIM:256450] (ABCC8,KCNJ11)
Hyperinsulinemic hypoglycemia, familial, 2 (HHF2) [MIM:601820] (ABCC8,KCNJ11)
Leucine-induced hypoglycemia (LIH) [MIM:240800] (ABCC8,KCNJ11)
Hyperlipoproteinemia Hyperlipoproteinemia 1D (HLPP1D) [MIM:615947] (LPL,GPIHBP1)
Hyperprolactinemia Hyperprolactinemia (HPRL) [MIM:615555] (GH1,PRLR)
Hyperthyroidism Hyperthyroidism, non-autoimmune (HTNA) [MIM:609152] (TSHR,GNAS)
Hypocalcemia Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677] (KCNJ18,KCNJ5)
Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361] (GNA11,GNB1)
Hypocalciuric hypercalcemia Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] (CASR,GNAS)
Hypochondroplasia Hypochondroplasia (HCH) [MIM:146000] (FGFR2,FGFR3)
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism 13 with or without anosmia (HH13) [MIM:614842] (KISS1,KISS1R)
Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] (FGFR1,FGF9), (FGFR1,FGFR2)
Hypogonadotropic hypogonadism 8 with or without anosmia (HH8) [MIM:614837] (KISS1,KISS1R)
Hypothyroidism Hypothyroidism, congenital, non-goitrous, 1 (CHNG1) [MIM:275200] (TSHR,GNAS)
Hypothyroidism, congenital, non-goitrous, 7 (CHNG7) [MIM:618573] (TRHR,GNAS)
Hystrix-like ichthyosis with deafness Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540] (GJB2,GJA8), (GJB1,GJB2)
Ichthyosis Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT14,KRT2), (KRT2,KRT12), (DES,KRT2), (KRT2,KRT17), (KRT2,KRT25), (KRT16,KRT2)
Ichthyosis, annular epidermolytic, 1 (AEI1) [MIM:607602] (KRT1,KRT10)
Ichthyosis, annular epidermolytic, 2 (AEI2) [MIM:620148] (KRT1,DES), (KRT1,KRT10)
Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] (ABCA1,ABCA12)
Imagawa-Matsumoto syndrome (IMMAS) [MIM:618786] Imagawa-Matsumoto syndrome (IMMAS) [MIM:618786] (SUZ12,EZH2)
Immunodeficiency Immunodeficiency 26 with or without neurologic abnormalities (IMD26) [MIM:615966] (PRKDC,DCLRE1C)
Immunodeficiency 31A (IMD31A) [MIM:614892] (STAT3,STAT1)
Infections recurrent associated with encephalopathy hepatic dysfunction and cardiovascular malformations Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759] (FAS,FADD)
Insulin-like growth factor 1 resistance Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] (INSR,IGF1R), (INS,IGF1R)
Intellectual developmental disorder, X-linked, syndromic, Wu type (MRXSW) [MIM:300699] Intellectual developmental disorder, X-linked, syndromic, Wu type (MRXSW) [MIM:300699] (GRIA2,GRIA3)
Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] (TRIO,RAC1)
Intellectual developmental disorder, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970] Intellectual developmental disorder, autosomal dominant 6, with or without seizures (MRD6) [MIM:613970] (GRIN1,GRIN2B)
Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) [MIM:123150] (FGF10,FGFR2), (FGFR1,FGF9)
Jervell and Lange-Nielsen syndrome Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400] (KCNE1,KCNQ1)
Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347] (KCNE1,KCNQ1)
Juvenile polyposis Juvenile polyposis syndrome (JPS) [MIM:174900] (SMAD4,SMAD2), (SMAD3,SMAD4)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050] (SMAD4,SMAD2), (SMAD3,SMAD4)
Keratinocytic non-epidermolytic nevus Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (FGFR3,FGF9), (NRAS,BRAF)
Keratitis-ichthyosis-deafness syndrome Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD) [MIM:148210] (GJB2,GJA8), (GJB1,GJB2)
Keratosis Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3R1,PIK3CA), (FGFR2,FGFR3), (FGFR3,FGF9), (PIK3R2,PIK3CA)
Kniest dysplasia Cardioacrofacial dysplasia 1 (CAFD1) [MIM:619142] (PRKACA,AKT1), (PRKAR1A,PRKACA)
Cardioacrofacial dysplasia 2 (CAFD2) [MIM:619143] (PRKAR1A,PRKACB)
Lacrimo-auriculo-dento-digital syndrome II Lacrimo-auriculo-dento-digital syndrome 3 (LADD3) [MIM:620193] (FGF10,FGFR2)
Laron syndrome Laron syndrome (LARS) [MIM:262500] (GH1,GHR)
Leber congenital amaurosis Leber congenital amaurosis 9 (LCA9) [MIM:608553] (PCYT1A,NMNAT1)
Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879] (TUBB,TUBB4B)
Leber hereditary optic neuropathy (LHON) [MIM:535000] Leber hereditary optic neuropathy (LHON) [MIM:535000] (MT-CO1,MT-CO3), (MT-ND4L,MT-ND6)
Leber optic neuropathy Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001] (MT-ND3,MT-ND6)
Left ventricular non-compaction Congenital heart defects, multiple types, 8, with or without heterotaxy (CHTD8) [MIM:619657] (SKI,SMAD2)
Left ventricular non-compaction 9 (LVNC9) [MIM:611878] (TPM1,TNNT2), (TPM1,TNNT1)
Left ventricular non-compaction 5 (LVNC5) [MIM:613426] Left ventricular non-compaction 5 (LVNC5) [MIM:613426] (MYH7,XRCC4)
Leigh syndrome Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] (PDHA1,PDHB)
Leigh syndrome (LS) [MIM:256000] Leigh syndrome (LS) [MIM:256000] (POLG,POLG2), (MT-ND3,MT-ND6), (MT-ND4L,MT-ND6)
Leopard syndrome LEOPARD syndrome 2 (LPRD2) [MIM:611554] (RAF1,YWHAG)
Leprechaunism Leprechaunism (LEPRCH) [MIM:246200] (INSR,IGF1R), (INS,INSR)
Leukemia Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (KRAS,NF1), (KRAS,SOS1)
Leukodystrophy hypomyelinating Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] (POLR1C,POLR3B), (POLR3A,POLR1C), (POLR1C,POLR1D)
Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD7) [MIM:607694] (POLR3A,POLR1D), (POLR3A,POLR3B), (POLR3A,POLR1C), (POLR3A,POLR3K)
Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism (HLD8) [MIM:614381] (POLR1C,POLR3B)
Leukodystrophy with vanishing white matter Leukoencephalopathy with vanishing white matter 2 (VWM2) [MIM:620312] (EIF2B2,EIF2B4)
Leukoencephalopathy with vanishing white matter 3 (VWM3) [MIM:620313] (EIF2B3,EIF2B4)
Leukoencephalopathy with vanishing white matter 4 (VWM4) [MIM:620314] (EIF2B2,EIF2B4), (EIF2B3,EIF2B4), (EIF2B5,EIF2B4)
Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] (EIF2B5,EIF2B4)
Li-Fraumeni syndrome Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53,TP63)
Limb-girdle muscular dystrophy Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] (LMNA,LMNB2), (LMNA,LMNB1), (KRT6A,LMNA)
Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B14 (MDDGB14) [MIM:615351] (GMPPA,GMPPB)
Lipodystrophy Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] (LMNA,LMNB2), (LMNA,LMNB1), (BANF1,LMNA)
Lipodystrophy, familial partial, 3 (FPLD3) [MIM:604367] (PPARG,NR2E3)
Partial acquired lipodystrophy (APLD) [MIM:608709] (LMNB1,LMNB2), (LMNA,LMNB2)
Lipoprotein lipase deficiency Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] (LPL,GPIHBP1)
Lissencephaly Lissencephaly 3 (LIS3) [MIM:611603] (TUBB,TUBA1A), (MAPT,TUBA1A), (TUBB3,TUBA1A)
Loeys-Dietz syndrome Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] (SMAD3,SMAD4)
Loeys-Dietz syndrome 6 (LDS6) [MIM:619656] Loeys-Dietz syndrome 6 (LDS6) [MIM:619656] (SMAD4,SMAD2)
Long QT syndrome Long QT syndrome 1 (LQT1) [MIM:192500] (CALM1,KCNQ1), (CALM2,KCNQ1), (KCNE1,KCNQ1)
Long QT syndrome 14 (LQT14) [MIM:616247] (CALM1,SCN5A), (KCNN4,CALM1), (CALM1,KCNQ1), (CALM1,FAS), (CALM1,KCNN2), (CALM1,IQSEC2), (CALM1,MYLK), (KCNQ2,CALM1)
Long QT syndrome 15 (LQT15) [MIM:616249] (CALM2,KCNQ1), (CALM2,TNNI3)
Long QT syndrome 16 (LQT16) [MIM:618782] (KCNQ2,CALM3)
Long QT syndrome 7 (LQT7) [MIM:170390] (KCNJ18,KCNJ2)
Long QT syndrome 3 (LQT3) [MIM:603830] Long QT syndrome 3 (LQT3) [MIM:603830] (CALM1,SCN5A), (FGF12,SCN5A)
Macrodactyly Macrodactyly (MADAC) [MIM:155500] (PIK3R1,PIK3CA), (PIK3R2,PIK3CA)
Mandibuloacral dysplasia Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] (BANF1,LMNA)
Mandibulofacial dysostosis with alopecia Mandibulofacial dysostosis with alopecia (MFDA) [MIM:616367] (EDNRA,GNAS), (EDN1,EDNRA)
Maple syrup urine disease Maple syrup urine disease 1A (MSUD1A) [MIM:248600] (BCKDHA,BCKDHB)
Maple syrup urine disease 1B (MSUD1B) [MIM:620698] (BCKDHA,BCKDHB)
Marbach-Schaaf neurodevelopmental syndrome (MASNS) [MIM:619680] Marbach-Schaaf neurodevelopmental syndrome (MASNS) [MIM:619680] (PRKAR1A,PRKAR1B)
Maturity-onset diabetes of the young Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370] (INS,INSR), (INS,IGF1R)
Maturity-onset diabetes of the young 3 (MODY3) [MIM:600496] (HNF1A,HNF1B)
McCune-Albright syndrome McCune-Albright syndrome (MAS) [MIM:174800] (GNB1,GNAS), (AVPR2,GNAS)
Medullary thyroid carcinoma Medullary thyroid carcinoma (MTC) [MIM:155240] (RET,ALK), (RET,MAPK1), (RET,GDNF)
Meesmann corneal dystrophy Corneal dystrophy, Meesmann 2 (MECD2) [MIM:618767] (KRT14,KRT3), (KRT3,DES), (KRT16,KRT3)
Megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5) [MIM:619431] (ACTA2,ACTG2), (ACTG2,ACTC1), (ACTG2,ACTA1)
Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] (PIK3R1,PIK3CA), (PIK3R2,PIK3CA)
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387] Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387] (PIK3R2,PIK3CA)
Meier-Gorlin syndrome Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] (ORC4,ORC1)
Meier-Gorlin syndrome 2 (MGORS2) [MIM:613800] (ORC4,ORC1)
Melanoma Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] (CDK4,CDKN2A)
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4,CDKN1C), (CDK4,CDKN2A)
Mental retardation Intellectual developmental disorder, X-linked 1 (XLID1) [MIM:309530] (CALM1,IQSEC2)
Intellectual developmental disorder, X-linked, syndromic, Pilorge type (MRXSP) [MIM:301076] (GLRA2,GLRB)
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNA11,GNB1), (GNB1,GNAI1), (AVPR2,GNB1), (GNB1,GNAS), (GNAO1,GNB1), (MC4R,GNB1)
Intellectual developmental disorder, autosomal dominant 47 (MRD47) [MIM:617635] (RAD21,STAG1)
Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] (TRIO,RAC1), (CYBB,RAC1), (NCF2,RAC1)
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MRD63) [MIM:618825] (TRIO,RAC1)
Metachromatic leukodystrophy Metachromatic leukodystrophy (MLD) [MIM:250100] (ARSA,SUMF1)
Metaphyseal chondrodysplasia Metaphyseal chondrodysplasia, Jansen type (MCDJ) [MIM:156400] (GNAS,PTH1R)
Methylmalonic aciduria Methylmalonic aciduria type cblA (MMAA) [MIM:251100] (MMUT,MMAA)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency (MMAM) [MIM:251000] (MMUT,MMAA)
Microcephaly Microcephaly 26, primary, autosomal dominant (MCPH26) [MIM:619179] (LMNB1,LMNB2), (LMNA,LMNB1)
Microcephaly 27, primary, autosomal dominant (MCPH27) [MIM:619180] (LMNA,LMNB2), (LMNB1,LMNB2)
Microcephaly-capillary malformation syndrome Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261] (PRKN,STAMBP)
Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome 4A (MTDPS4A) [MIM:203700] (POLG,POLG2)
Mitochondrial DNA depletion syndrome 4B (MTDPS4B) [MIM:613662] (POLG,POLG2)
Mitochondrial complex Mitochondrial complex I deficiency, nuclear type 37 (MC1DN37) [MIM:619272] (NDUFA8,NDUFA13)
Mitochondrial complex II deficiency, nuclear type 1 (MC2DN1) [MIM:252011] (SDHB,SDHA)
Mitochondrial complex II deficiency, nuclear type 4 (MC2DN4) [MIM:619224] (SDHB,SDHA)
Mitochondrial complex V deficiency, nuclear type 4A (MC5DN4A) [MIM:620358] (ATP5F1B,ATP5F1A)
Mitochondrial complex V deficiency, nuclear type 4B (MC5DN4B) [MIM:615228] (ATP5F1B,ATP5F1A)
Mitochondrial complex deficiency Mitochondrial complex I deficiency, mitochondrial type 1 (MC1DM1) [MIM:500014] (MT-ND3,MT-ND6)
Mitochondrial complex I deficiency, nuclear type 2 (MC1DN2) [MIM:618222] (NDUFS8,NDUFS6), (NDUFS8,NDUFS2), (NDUFS8,MT-ND1)
Mitochondrial complex I deficiency, nuclear type 28 (MC1DN28) [MIM:618249] (NDUFA8,NDUFA13)
Mitochondrial complex I deficiency, nuclear type 6 (MC1DN6) [MIM:618228] (NDUFS8,NDUFS2), (NDUFS2,MT-ND1)
Mitochondrial complex I deficiency, nuclear type 9 (MC1DN9) [MIM:618232] (NDUFS8,NDUFS6)
Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] (MT-CO1,MT-CO3)
Mitochondrial complex V deficiency, nuclear type 3 (MC5DN3) [MIM:614053] (ATP5F1D,ATP5F1E)
Mitochondrial complex V deficiency, nuclear type 5 (MC5DN5) [MIM:618120] (ATP5F1D,ATP5F1E)
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] (MT-ND3,MT-ND6), (NDUFS2,MT-ND1), (MT-ND4L,MT-ND6), (NDUFS8,MT-ND1)
Monilethrix Monilethrix (MNLIX) [MIM:158000] (KRT86,KRT16), (KRT16,KRT83), (KRT16,KRT81), (KRT14,KRT81), (KRT86,KRT14)
Mucopolysaccharidosis Mucopolysaccharidosis 4B (MPS4B) [MIM:253010] (CTSA,GLB1)
Muenke syndrome Muenke syndrome (MNKS) [MIM:602849] (FGFR3,FGF9)
Mullegama-Klein-Martinez syndrome (MKMS) [MIM:301022] Mullegama-Klein-Martinez syndrome (MKMS) [MIM:301022] (RAD21,STAG2)
Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] Multiple congenital anomalies-hypotonia-seizures syndrome 3 (MCAHS3) [MIM:615398] (PIGT,PIGU)
Multiple neoplasia Multiple neoplasia 2A (MEN2A) [MIM:171400] (RET,MAPK1), (RET,GDNF)
Multiple neoplasia 2B (MEN2B) [MIM:162300] (RET,ALK)
Multiple sulfatase deficiency Multiple sulfatase deficiency (MSD) [MIM:272200] (ARSA,SUMF1)
Multiple synostoses syndrome Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] (GDF5,BMPR2), (GDF5,NOG), (GDF5,HJV)
Multiple synostoses syndrome 3 (SYNS3) [MIM:612961] (FGFR3,FGF9), (FGFR1,FGF9)
Muscular dystrophy-dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A14 (MDDGA14) [MIM:615350] (GMPPA,GMPPB)
Muscular dystrophy-dystroglycanopathy limb-girdle C14 (MDDGC14) [MIM:615352] (GMPPA,GMPPB)
Myasthenic syndrome Myasthenic syndrome, congenital, 17 (CMS17) [MIM:616304] (MUSK,LRP4)
Myasthenic syndrome, congenital, 18 (CMS18) [MIM:616330] (SNAP25,VAMP2)
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency (CMS9) [MIM:616325] (MUSK,LRP4)
Myopathy Congenital myopathy 15 (CMYP15) [MIM:620161] (TNNC2,TNNI3)
Congenital myopathy 23 (CMYP23) [MIM:609285] (TPM2,TPM1)
Congenital myopathy 4A, autosomal dominant (CMYP4A) [MIM:255310] (TPM3,TNNT1)
Congenital myopathy 7A, myosin storage, autosomal dominant (CMYP7A) [MIM:608358] (MYH7,XRCC4)
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS,NF1), (HRAS,SOS1)
Myopathy, distal, 1 (MPD1) [MIM:160500] (MYH7,XRCC4)
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT14,DES), (DES,KRT12), (DES,KRT2), (DES,KRT17), (KRT1,DES), (GFAP,DES), (KRT6B,DES), (KRT6A,DES), (KRT3,DES), (DES,KRT6C), (KRT16,DES), (KRT5,DES)
Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] (CRYAB,HSPB1), (CRYAA,CRYAB), (CRYAB,HSPB8)
Nemaline myopathy Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] (ACTB,ACTA1), (ACTC1,ACTA1), (ACTA2,ACTA1), (ACTG2,ACTA1)
Nemaline myopathy 5B, autosomal recessive, childhood-onset (NEM5B) [MIM:620386] (TPM3,TNNT1), (TPM1,TNNT1)
Nephrogenic syndrome Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539] (AVPR2,GNAS)
Nephrotic syndrome Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 (CHINE1) [MIM:301108] (DKC1,NOP10)
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2 (CHINE2) [MIM:620425] (DKC1,NOP10)
Nestor-Guillermo progeria syndrome Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008] (BANF1,LMNA)
Neuroblastoma Neuroblastoma 3 (NBLST3) [MIM:613014] (RET,ALK)
Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis Neurodevelopmental disorder with brain anomalies, seizures, and scoliosis (NEDBSS) [MIM:618590] (GPAA1,PIGU), (PIGT,PIGU)
Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements (NEDHAHM) [MIM:618760] (SNAP25,VAMP2)
Neurodevelopmental disorder with involuntary movements Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] (GNAO1,GNB1)
Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI) [MIM:618480] (DHPS,EIF5A)
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] (GRIN1,GRIN2B), (GRIN1,GRIN2A), (GRIN2D,GRIN1)
Neurodevelopmental, jaw, eye, and digital syndrome Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) [MIM:618914] (CTNNB1,FBXW11), (NFKBIA,FBXW11)
Neurofibromatosis Neurofibromatosis 1 (NF1) [MIM:162200] (HRAS,NF1), (KRAS,NF1)
Neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] (HRAS,NF1), (KRAS,NF1)
Neuropathy Neuronopathy, distal hereditary motor, autosomal dominant 2 (HMND2) [MIM:158590] (CRYAB,HSPB8)
Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] (CRYAA,HSPB1), (CRYAB,HSPB1)
Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] (SPTLC1,SPTLC2)
Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640] (SPTLC1,SPTLC2)
Neutropenia Neutropenia, severe congenital, X-linked (XLN) [MIM:300299] (WAS,CDC42)
Niemann-Pick disease Niemann-Pick disease C1 (NPC1) [MIM:257220] (NPC1,NPC2)
Niemann-Pick disease C2 (NPC2) [MIM:607625] (NPC1,NPC2)
Noonan syndrome Noonan syndrome 11 (NS11) [MIM:618499] (MRAS,SHOC2)
Noonan syndrome 13 (NS13) [MIM:619087] (MAPK1,RPS6KA3), (RET,MAPK1)
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS,NF1), (KRAS,SOS1)
Noonan syndrome 4 (NS4) [MIM:610733] (KRAS,SOS1), (HRAS,SOS1)
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1,YWHAG)
Noonan syndrome 6 (NS6) [MIM:613224] (NRAS,BRAF)
Noonan syndrome 7 (NS7) [MIM:613706] (BRAF,YWHAG)
Noonan syndrome-like disorder with loose anagen hair 1 (NSLH1) [MIM:607721] (MRAS,SHOC2)
Norrie disease Norrie disease (ND) [MIM:310600] (NDP,FZD4)
Obesity Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) [MIM:619475] (SPTBN1,SPTAN1)
Obesity (OBESITY) [MIM:601665] (MC4R,GNAS), (MC4R,GNB1)
Thrombocytopenia 8, with dysmorphic features and developmental delay (THC8) [MIM:620475] (ACTB,ACTA1), (PFN1,ACTB)
Oculoectodermal syndrome Oculoectodermal syndrome (OES) [MIM:600268] (KRAS,SOS1), (KRAS,NF1)
Osseous heteroplasia Progressive osseous heteroplasia (POH) [MIM:166350] (GNB1,GNAS)
Osteogenesis imperfecta Osteogenesis imperfecta 1 (OI1) [MIM:166200] (COL1A1,COL1A2)
Osteogenesis imperfecta 17 (OI17) [MIM:616507] (COL3A1,SPARC)
Osteogenesis imperfecta 2 (OI2) [MIM:166210] (COL1A1,GP6), (COL1A1,COL1A2)
Osteogenesis imperfecta 3 (OI3) [MIM:259420] (COL1A1,GP6), (COL1A1,COL1A2)
Osteogenesis imperfecta 4 (OI4) [MIM:166220] (COL1A1,COL1A2)
Pachyonychia congenita Pachyonychia congenita 1 (PC1) [MIM:167200] (KRT86,KRT16), (KRT16,KRT5), (KRT6A,KRT16), (KRT16,KRT83), (KRT16,KRT81), (KRT16,KRT4), (KRT16,KRT3), (KRT16,KRT2), (KRT16,DES)
Pachyonychia congenita 2 (PC2) [MIM:167210] (DES,KRT17), (KRT6A,KRT17), (KRT5,KRT17), (KRT2,KRT17)
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A,KRT16), (KRT6A,KRT17), (KRT6A,DES), (KRT14,KRT6A), (KRT6A,LMNA)
Pachyonychia congenita 4 (PC4) [MIM:615728] (KRT6B,DES)
Palmoplantar keratoderma Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] (GJB1,GJB2)
Palmoplantar keratoderma, non-epidermolytic, focal or diffuse (PPKNEFD) [MIM:615735] (DES,KRT6C)
Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760] (KRT5,KRT25), (KRT2,KRT25)
Pancreatitis Pancreatitis, hereditary (PCTT) [MIM:167800] (SPINK1,PRSS1)
Tropical calcific pancreatitis (TCP) [MIM:608189] (SPINK1,PRSS1)
Paraganglioma Pheochromocytoma/paraganglioma syndrome 1 (PPGL1) [MIM:168000] (SDHD,SDHB)
Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310] (SDHB,SDHA), (SDHD,SDHB)
Parietal foramina Parietal foramina 1 (PFM1) [MIM:168500] (POU1F1,MSX2), (MSX2,PITX1)
Parkinson disease Parkinson disease (PARK) [MIM:168600] (PRKN,STAMBP)
Parkinson disease 2 (PARK2) [MIM:600116] (PRKN,STAMBP)
Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development (PARK25) [MIM:620482] (PPP2CA,PTPA)
Parkinson disease 8 (PARK8) [MIM:607060] (YWHAG,LRRK2)
Peroxisome biogenesis disorder Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100] (PEX1,PEX6)
Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539] (PEX1,PEX6)
Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862] (PEX1,PEX6)
Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] (PEX1,PEX6)
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] (FGFR2,FGFR3), (FGF10,FGFR2), (FGFR1,FGF9), (FGFR1,FGFR2)
Pheochromocytoma (PCC) [MIM:171300] Pheochromocytoma (PCC) [MIM:171300] (RET,MAPK1), (VHL,EPAS1), (MYCN,MAX), (MAX,TCF12)
Pick disease of the brain (PIDB) [MIM:172700] Pick disease of the brain (PIDB) [MIM:172700] (MAPT,TUBA1A), (MAPT,YWHAG)
Pigmented adrenocortical disease Primary pigmented nodular adrenocortical disease 4 (PPNAD4) [MIM:615830] (PRKAR1A,PRKACA), (PRKACA,SIK3)
Pilomatrixoma Pilomatrixoma (PTR) [MIM:132600] (CTNNB1,FBXW11)
Pitt-Hopkins syndrome Pitt-Hopkins syndrome (PTHS) [MIM:610954] (TCF4,TWIST1)
Pituitary hormone deficiency Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] (POU1F1,MSX2), (POU1F1,LHX4)
Pituitary hormone deficiency, combined, 4 (CPHD4) [MIM:262700] (POU1F1,LHX4)
Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) [MIM:618732] Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) [MIM:618732] (CSNK2B,CSNK2A1)
Polydactyly-macrocephaly syndrome Polydactyly-macrocephaly syndrome (PDMCS) [MIM:620712] (MYCN,MAX), (MAX,TCF12)
Pontocerebellar hypoplasia Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] (EXOSC5,EXOSC3), (EXOSC9,EXOSC3)
Pontocerebellar hypoplasia 1D (PCH1D) [MIM:618065] (EXOSC9,EXOSC3)
Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809] (AMPD3,AMPD2)
Premature ovarian failure Premature ovarian failure 7 (POF7) [MIM:612964] (NR0B1,NR5A1)
Progressive external ophthalmoplegia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131] (POLG,POLG2)
Pseudohypoaldosteronism Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] (NR3C1,NR3C2)
Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] (WNK4,KLHL3)
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (WNK4,KLHL3)
Pseudohypoparathyroidism Albright hereditary osteodystrophy (AHO) [MIM:103580] (CASR,GNAS), (TRHR,GNAS), (GNB1,GNAS), (TSHR,GNAS), (AVPR2,GNAS), (EDNRA,GNAS), (MC4R,GNAS), (GNAS,PTH1R)
Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] (GNB1,GNAS)
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (CASR,GNAS), (TRHR,GNAS), (TSHR,GNAS), (AVPR2,GNAS), (EDNRA,GNAS), (MC4R,GNAS), (GNAS,PTH1R)
Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] (GDF5,BMPR2)
Pyropoikilocytosis Hereditary pyropoikilocytosis (HPP) [MIM:266140] (SPTA1,SPTB)
Pyruvate carboxylase deficiency Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111] (PDHA1,PDHB)
Question mark ears Question mark ears, isolated (QME) [MIM:612798] (EDN1,EDNRA)
Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome (RMS) [MIM:262190] (INSR,IGF1R), (INS,INSR)
Radioulnar synostosis with amegakaryocytic thrombocytopenia Thrombocytopenia 6 (THC6) [MIM:616937] (LYN,SRC)
Refsum disease Autoinflammatory disease, systemic, with vasculitis (SAIDV) [MIM:620376] (LYN,SRC)
Charcot-Marie-Tooth disease, axonal, 2F (CMT2F) [MIM:606595] (CRYAA,HSPB1), (CRYAB,HSPB1)
Von Willebrand disease, platelet-type (VWDP) [MIM:177820] (F2,GP1BA), (VWF,GP1BA)
Renal cell carcinoma Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET,BTK)
Retinitis pigmentosa Retinitis pigmentosa 13 (RP13) [MIM:600059] (SNRNP200,PRPF8)
Retinitis pigmentosa 33 (RP33) [MIM:610359] Retinitis pigmentosa 33 (RP33) [MIM:610359] (SNRNP200,PRPF8)
SHORT syndrome SHORT syndrome (SHORTS) [MIM:269880] (PIK3R1,PIK3CA), (PIK3R1,STAT3)
Skin creases, congenital symmetric circumferential, 1 (CSCSC1) [MIM:156610] (TUBB,TUBB2B), (TUBB,TUBB4B), (TUBB,TUBB2A)
Saethre-Chotzen syndrome Saethre-Chotzen syndrome (SCS) [MIM:101400] (TCF4,TWIST1)
Scaphocephaly syndrome Familial scaphocephaly syndrome (FSPC) [MIM:609579] (FGFR2,FGFR3), (FGFR1,FGFR2)
Schimmelpenning-Feuerstein-Mims syndrome Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200] (KRAS,NF1), (KRAS,SOS1), (HRAS,SOS1)
Sclerosteosis Sclerosteosis 2 (SOST2) [MIM:614305] (MUSK,LRP4)
Seizures Febrile seizures, familial, 8 (FEB8) [MIM:607681] (GABRB1,GABRG2), (GABRG2,GABRB2), (GABRG2,GABRA5), (GABRG2,GABRB3)
Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] (SCN2B,SCN2A)
Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] (KCNQ2,CALM1), (KCNQ2,CALM3)
Sensory ataxic neuropathy dysarthria and ophthalmoparesis Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] (POLG,POLG2)
Severe combined immunodeficiency Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive with sensitivity to ionizing radiation (RSSCID) [MIM:602450] (PRKDC,DCLRE1C)
Short QT syndrome Short QT syndrome 3 (SQT3) [MIM:609622] (KCNJ18,KCNJ2)
Short stature Hemolytic uremic syndrome, atypical, 1 (AHUS1) [MIM:235400] (C3,CFH)
Hemolytic uremic syndrome, atypical, 2 (AHUS2) [MIM:612922] (C3,CD46)
Hemolytic uremic syndrome, atypical, 3 (AHUS3) [MIM:612923] (CFI,CFH)
Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] (C3,CD46), (C3,CFH)
Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541] (MYH7,XRCC4)
Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] (SKI,SMAD2)
Sick sinus syndrome Sick sinus syndrome 1 (SSS1) [MIM:608567] (CALM1,SCN5A)
Sitosterolemia Sitosterolemia 1 (STSL1) [MIM:210250] (ABCG8,ABCG5)
Sitosterolemia 2 (STSL2) [MIM:618666] Sitosterolemia 2 (STSL2) [MIM:618666] (ABCG8,ABCG5)
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia (SPG91) [MIM:620538] Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia (SPG91) [MIM:620538] (SPTBN2,SPTAN1), (SPTB,SPTAN1)
Spinocerebellar ataxia Spinocerebellar ataxia 5 (SCA5) [MIM:600224] (SPTBN2,SPTAN1)
Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459] (POLG,POLG2)
Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia, Krakow type (SEMDK) [MIM:618162] (PRKACA,SIK3)
Stargardt disease 1 (STGD1) [MIM:248200] Stargardt disease 1 (STGD1) [MIM:248200] (CNGA3,CNGB3)
Stolerman neurodevelopmental syndrome Stolerman neurodevelopmental syndrome (NEDSST) [MIM:618505] (KDM6B,H3C12)
Supranuclear palsy Progressive supranuclear palsy 1 (PSNP1) [MIM:601104] (MAPT,TUBB3)
Symphalangism Symphalangism, proximal 1A (SYM1A) [MIM:185800] (GDF5,NOG)
Symphalangism, proximal 1B (SYM1B) [MIM:615298] (GDF5,NOG), (GDF5,HJV)
Systemic lupus erythematosus Systemic lupus erythematosus 17 (SLEB17) [MIM:301080] (TLR8,TLR7)
Tangier disease Tangier disease (TGD) [MIM:205400] (ABCA1,ABCA12)
Tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (GDF5,NOG)
Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] (H3-3B,DNMT3A)
Temple-Baraitser syndrome Temple-Baraitser syndrome (TMBTS) [MIM:611816] (KCNH1,KCNB1)
Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1 (TEBIVANED1) [MIM:619758] (H4C16,H3-3B)
Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3 (TEBIVANED3) [MIM:619950] (H4C16,H3-3B)
Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 4 (TEBIVANED4) [MIM:619951] (H4C16,H3-3B)
Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 2 (TEBIVANED2) [MIM:619759] Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 2 (TEBIVANED2) [MIM:619759] (H4C16,H3-3B)
Thanatophoric dysplasia Thanatophoric dysplasia 1 (TD1) [MIM:187600] (FGFR2,FGFR3), (FGFR3,FGF9)
Thanatophoric dysplasia 2 (TD2) [MIM:187601] (FGFR2,FGFR3)
Thrombocytopenia Amegakaryocytic thrombocytopenia, congenital, 1 (CAMT1) [MIM:604498] (THPO,MPL)
Amegakaryocytic thrombocytopenia, congenital, 2 (CAMT2) [MIM:620481] (THPO,MPL)
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies (THC11) [MIM:620654] (RAP1B,RASGRP2)
Thrombocytopenia 9 (THC9) [MIM:620478] (THPO,MPL)
Thrombophilia Thrombophilia due to activated protein C resistance (THPH2) [MIM:188055] (F2,F5)
Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] (F2,SERPIND1)
Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] (F2,PROC)
Thyrotoxic hypokalemic periodic paralysis Thyrotoxic periodic paralysis 2 (TTPP2) [MIM:613239] (KCNJ18,KCNJ2), (KCNJ18,KCNJ5)
Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500] Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500] (EDA,EDAR)
Treacher Collins syndrome Treacher Collins syndrome 2 (TCS2) [MIM:613717] (POLR3A,POLR1D), (POLR1C,POLR1D)
Trichothiodystrophy Trichothiodystrophy 3, photosensitive (TTD3) [MIM:616395] (XPA,GTF2H5)
Tuberous sclerosis Tuberous sclerosis 2 (TSC2) [MIM:613254] (TSC2,TSC1)
Tuberous sclerosis 1 (TSC1) [MIM:191100] Tuberous sclerosis 1 (TSC1) [MIM:191100] (TSC2,TSC1)
Ventricular tachycardia Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916] (CALM1,SCN5A), (KCNQ2,CALM1), (CALM1,KCNQ1), (CALM1,KCNN2)
Vohwinkel syndrome Vohwinkel syndrome (VOWNKL) [MIM:124500] (GJB1,GJB2)
Von Hippel-Lindau disease Von Hippel-Lindau disease (VHLD) [MIM:193300] (VHL,EPAS1)
Von Willebrand disease Von Willebrand disease 2 (VWD2) [MIM:613554] (F8,VWF), (VWF,GP1BA)
Weaver syndrome Weaver syndrome (WVS) [MIM:277590] (SUZ12,EZH2), (H3C12,EZH2), (EED,EZH2)
White sponge nevus White sponge nevus 1 (WSN1) [MIM:193900] (KRT16,KRT4), (KRT14,KRT4)
White-Kernohan syndrome White-Kernohan syndrome (WHIKERS) [MIM:619426] (DDB1,DDB2)
Xeroderma pigmentosum Xeroderma pigmentosum complementation group A (XP-A) [MIM:278700] (XPA,GTF2H5)
Xeroderma pigmentosum complementation group E (XP-E) [MIM:278740] (DDB1,DDB2)
Xeroderma pigmentosum complementation group F (XP-F) [MIM:278760] (ERCC1,ERCC4)
Zimmermann-Laband syndrome Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] (KCNH1,KCNB1)

[Show all]
Diseases having interaction interfaces enriched with mutations
Disease Disease phenotype (**) Interaction Log_2 Enrich. P-val Corr. P-val
3-methylglutaconic aciduria 3-methylglutaconic aciduria 7A (MGCA7A) [MIM:619835] (CLPB, CLPB) 1.318 0.0259 0.0259
Abetalipoproteinemia Abetalipoproteinemia (ABL) [MIM:200100] (P4HB, MTTP) 2.317 0.0179 0.0179
Acromesomelic dysplasia Acromesomelic dysplasia 2B (AMD2B) [MIM:228900] (GDF5, TWSG1) 1.853 0.00587 0.0411
All phenotypes (GDF5, TWSG1) 1.531 0.0228 0.183
Acyl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] (ACADVL, ACADVL) 0.769 0.0286 0.0286
All phenotypes (ACADVL, ACADVL) 0.769 0.0286 0.114
Adenomatous polyposis Familial adenomatous polyposis 1 (FAP1) [MIM:175100] (APC, DLG3) 4.862 0.0339 0.0451
Familial adenomatous polyposis 1 (FAP1) [MIM:175100] (APC, DLG1) 4.640 0.0395 0.0451
Familial adenomatous polyposis 1 (FAP1) [MIM:175100] (APC, SCRIB) 4.640 0.0395 0.0451
Familial adenomatous polyposis 1 (FAP1) [MIM:175100] (APC, PTPN13) 4.447 0.0451 0.0451
Adrenal hyperplasia ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080] (AVPR2, GNAS) 2.978 0.0161 0.0644
All phenotypes (AVPR2, GNAS) 2.978 0.0161 0.129
Adrenocorticotropic hormone deficiency ACTH deficiency, isolated (IAD) [MIM:201400] (TBX19, PITX1) 4.939 0.0326 0.0489
ACTH deficiency, isolated (IAD) [MIM:201400] (TBX19, VENTX) 4.939 0.0326 0.0489
Adrenoleukodystrophy Adrenoleukodystrophy (ALD) [MIM:300100] (ABCD1, ABCD1) 0.466 0.00055 0.00165
Adrenoleukodystrophy (ALD) [MIM:300100] (ABCD3, ABCD1) 0.353 0.0494 0.0741
Agammaglobulinemia All phenotypes (MET, BTK) 0.618 0.0297 0.238
X-linked agammaglobulinemia (XLA) [MIM:300755] (MET, BTK) 0.618 0.0297 0.178
Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome 7 (AGS7) [MIM:615846] (DDX3X, IFIH1) 2.441 0.0493 0.0493
All phenotypes (DDX3X, IFIH1) 2.441 0.0493 0.345
Alazami-Yuan syndrome Alazami-Yuan syndrome (ALYUS) [MIM:617126] (TAF6, TAF9) 2.484 0.0319 0.0639
Alzheimer disease All phenotypes (APP, ) 3.389 0.0151 0.0579
All phenotypes (APP, PITRM1) 3.389 0.0151 0.0579
All phenotypes (APP, LCN2) 2.859 0.03 0.0987
All phenotypes (IGKC, APP) 2.752 0.0344 0.099
All phenotypes (APP, PSEN2) 2.672 7.57e-10 8.7e-9
All phenotypes (APP, PSEN1) 2.120 2.02e-20 4.66e-19
All phenotypes (APP, APP) 1.323 6.64e-6 5.09e-5
All phenotypes (NOTCH1, PSEN1) 0.777 0.00112 0.00646
Alzheimer disease 1 (AD1) [MIM:104300] (APP, PSEN1) 4.112 2.74e-13 3.84e-12
Alzheimer disease 1 (AD1) [MIM:104300] (APP, PSEN2) 3.974 7.76e-13 5.43e-12
Alzheimer disease 1 (AD1) [MIM:104300] (APP, ) 3.389 0.0151 0.0423
Alzheimer disease 1 (AD1) [MIM:104300] (APP, PITRM1) 3.389 0.0151 0.0423
Alzheimer disease 1 (AD1) [MIM:104300] (APP, LCN2) 2.859 0.03 0.0688
Alzheimer disease 1 (AD1) [MIM:104300] (IGKC, APP) 2.752 0.0344 0.0688
Alzheimer disease 1 (AD1) [MIM:104300] (APP, APP) 1.323 6.64e-6 3.1e-5
Alzheimer disease 3 (AD3) [MIM:607822] (APP, PSEN1) 0.914 2.5e-5 0.00015
Alzheimer disease 3 (AD3) [MIM:607822] (NOTCH1, PSEN1) 0.777 0.00112 0.00337
Amelogenesis imperfecta Amelogenesis imperfecta 1H (AI1H) [MIM:616221] (TGFB3, ITGB6) 4.531 0.00245 0.0056
Amelogenesis imperfecta 1H (AI1H) [MIM:616221] (TGFB1, ITGB6) 4.222 0.00374 0.0056
Amyloidosis All phenotypes (GSN, GSN) 2.963 0.0164 0.115
Amyloidosis, hereditary systemic 4, Finnish type (AMYLD4) [MIM:105120] (GSN, GSN) 2.963 0.0164 0.0164
Amyotrophic lateral sclerosis All phenotypes (SHC1, ERBB4) 5.865 0.0172 0.0549
All phenotypes (FUS, TNPO1) 4.024 2.92e-15 4.67e-14
All phenotypes (HNRNPA1, TNPO1) 2.699 0.0295 0.0785
All phenotypes (HNRNPA1, HNRNPA1L2) 2.547 0.00501 0.0267
All phenotypes (ANXA11, TARDBP) 2.124 0.0125 0.0501
All phenotypes (TARDBP, TARDBP) 0.961 8.88e-7 7.11e-6
Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] (ANXA11, TARDBP) 2.124 0.0125 0.0125
Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] (TARDBP, TARDBP) 0.961 8.88e-7 1.78e-6
Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515] (SHC1, ERBB4) 5.865 0.0172 0.0172
Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] (HNRNPA1, TNPO1) 2.699 0.0295 0.0442
Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] (HNRNPA1, HNRNPA1L2) 2.547 0.00501 0.015
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] (FUS, TNPO1) 4.024 2.92e-15 2.92e-15
Anhidrosis Anhidrosis, isolated, with normal sweat glands (ANHD) [MIM:106190] (ITPR2, TRPC4) 5.401 0.0237 0.0237
Antithrombin III deficiency Antithrombin III deficiency (AT3D) [MIM:613118] (F9, SERPINC1) 0.982 0.0382 0.141
Aortic aneurysm All phenotypes (CALM1, MYLK) 4.680 0.00199 0.016
All phenotypes (MYL12A, MYLK) 3.542 0.00945 0.0378
Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] (CALM1, MYLK) 4.680 0.00199 0.00399
Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] (MYL12A, MYLK) 3.542 0.00945 0.00945
Apert syndrome Apert syndrome (APRS) [MIM:101200] (FGF4, FGFR2) 4.138 0.000183 0.000877
Apert syndrome (APRS) [MIM:101200] (FGF10, FGFR2) 3.945 0.000274 0.000877
Apert syndrome (APRS) [MIM:101200] (FGF5, FGFR2) 3.909 0.000295 0.000877
Apert syndrome (APRS) [MIM:101200] (FGF2, FGFR2) 3.775 0.00039 0.000877
Apert syndrome (APRS) [MIM:101200] (FGF7, FGFR2) 3.623 0.000535 0.000963
Apert syndrome (APRS) [MIM:101200] (FGFR2, FGF8) 3.512 0.000674 0.00101
Apert syndrome (APRS) [MIM:101200] (FGF1, FGFR2) 3.057 0.00173 0.00223
Arthrogryposis All phenotypes (MET, SH2B1) 6.555 0.0106 0.0348
All phenotypes (SH2B2, MET) 6.555 0.0106 0.0348
All phenotypes (MET, SH2B3) 6.429 0.0116 0.0348
Arthrogryposis, distal, 11 (DA11) [MIM:620019] (MET, SH2B1) 6.555 0.0106 0.0271
Arthrogryposis, distal, 11 (DA11) [MIM:620019] (SH2B2, MET) 6.555 0.0106 0.0271
Arthrogryposis, distal, 11 (DA11) [MIM:620019] (MET, SH2B3) 6.429 0.0116 0.0271
Ataxia telangiectasia All phenotypes (NBN, MRE11) 2.539 0.0395 0.158
Ataxia-telangiectasia-like disorder 1 (ATLD1) [MIM:604391] (NBN, MRE11) 2.539 0.0395 0.079
Atrial septal defect All phenotypes (SCN2B, SCN2A) 3.667 0.0062 0.0786
All phenotypes (SCN2B, SCN3A) 3.288 0.0105 0.0786
All phenotypes (NKX2-5, MEF2A) 2.000 0.0351 0.132
All phenotypes (NKX2-5, MEF2B) 2.000 0.0351 0.132
Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378] (SCN2B, SCN2A) 3.667 0.0062 0.0105
Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378] (SCN2B, SCN3A) 3.288 0.0105 0.0105
Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] (NKX2-5, MEF2A) 2.000 0.0351 0.0701
Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] (NKX2-5, MEF2B) 2.000 0.0351 0.0701
Auriculocondylar syndrome Auriculocondylar syndrome 1 (ARCND1) [MIM:602483] (GNAI3, PCP2) 2.652 0.00619 0.00756
Auriculocondylar syndrome 1 (ARCND1) [MIM:602483] (GNAI3, GPSM3) 2.618 0.00662 0.00756
Auriculocondylar syndrome 1 (ARCND1) [MIM:602483] (GNAI3, GPSM2) 2.553 0.00756 0.00756
Autoimmune disease, multisystem, infantile-onset, All phenotypes (SMARCB1, H2AC6) 5.551 9.71e-6 0.000165
All phenotypes (H2BC12, SMARCB1) 4.743 5.2e-5 0.000442
All phenotypes (H2BC10, SMARCB1) 4.644 0.0021 0.00891
All phenotypes (ERBB2, STAT3) 4.310 0.0495 0.124
All phenotypes (SMARCB1, H2AC19) 4.303 0.00013 0.000737
All phenotypes (STAT3, STAT2) 2.865 0.0257 0.0875
Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (ERBB2, STAT3) 4.310 0.0495 0.0918
Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (STAT3, STAT2) 2.865 0.0257 0.0918
Coffin-Siris syndrome 3 (CSS3) [MIM:614608] (SMARCB1, H2AC6) 5.551 9.71e-6 3.88e-5
Coffin-Siris syndrome 3 (CSS3) [MIM:614608] (H2BC12, SMARCB1) 4.743 5.2e-5 0.000104
Coffin-Siris syndrome 3 (CSS3) [MIM:614608] (H2BC10, SMARCB1) 4.644 0.0021 0.0021
Coffin-Siris syndrome 3 (CSS3) [MIM:614608] (SMARCB1, H2AC19) 4.303 0.00013 0.000173
Autoimmune polyendocrine syndrome Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] (AIRE, AIRE) 2.106 0.0184 0.0368
Autoinflammation, antibody deficiency, and immune dysregulation Autoinflammation, antibody deficiency, and immune dysregulation (APLAID) [MIM:614878] (ERBB2, PLCG2) 6.253 0.0131 0.0131
Baraitser-Winter syndrome All phenotypes (ACTB, ACTR3) 2.032 0.025 0.2
Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] (ACTB, ACTR3) 2.032 0.025 0.125
Bardet-Biedl syndrome All phenotypes (BBS1, BBS2) 1.811 0.0234 0.206
All phenotypes (BBS1, BBS4) 1.245 0.0316 0.206
Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] (BBS1, BBS2) 1.811 0.0234 0.0937
Basal cell nevus syndrome All phenotypes (ACTB, CCT7) 5.229 0.0267 0.147
All phenotypes (ACTB, MZT1) 5.091 0.0293 0.147
All phenotypes (ACTB, PDCL3) 4.463 0.0453 0.189
All phenotypes (NRAS, HLA-A) 3.519 0.00975 0.135
All phenotypes (NRAS, GRB10) 2.934 0.0215 0.147
All phenotypes (NRAS, RASA1) 2.178 0.0108 0.135
Becker nevus syndrome (BNS) [MIM:604919] (ACTB, CCT7) 5.229 0.0267 0.194
Becker nevus syndrome (BNS) [MIM:604919] (ACTB, MZT1) 5.091 0.0293 0.194
Becker nevus syndrome (BNS) [MIM:604919] (ACTB, PDCL3) 4.463 0.0453 0.194
Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] (NRAS, HLA-A) 3.519 0.00975 0.0324
Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] (NRAS, GRB10) 2.934 0.0215 0.043
Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] (NRAS, RASA1) 2.178 0.0108 0.0324
Basal ganglia calcification Basal ganglia calcification, idiopathic, 5 (IBGC5) [MIM:615483] (PDGFB, PDGFC) 4.331 0.0497 0.248
Bethlem myopathy All phenotypes (ACTG2, ACTG2) 1.824 2.12e-5 0.000276
Visceral myopathy 1 (VSCM1) [MIM:155310] (ACTG2, ACTG2) 1.824 2.12e-5 0.000191
Bladder cancer Bladder cancer (BLC) [MIM:109800] (FGF1, FGFR3) 2.688 0.0339 0.0951
Bladder cancer (BLC) [MIM:109800] (FGFR3, FGFR3) 1.985 0.007 0.049
Bleeding disorder All phenotypes (ITGA2B, FLNA) 6.326 0.000155 0.00124
All phenotypes (TBXA2R, WDR36) 6.013 0.0155 0.0577
All phenotypes (RAP1B, RASGRP2) 2.362 0.0497 0.0794
All phenotypes (ITGB3, ITGA2B) 1.767 0.0254 0.0577
Bleeding disorder, platelet-type, 13 (BDPLT13) [MIM:614009] (TBXA2R, WDR36) 6.013 0.0155 0.031
Bleeding disorder, platelet-type, 16 (BDPLT16) [MIM:187800] (ITGA2B, FLNA) 6.326 0.000155 0.000311
Bleeding disorder, platelet-type, 18 (BDPLT18) [MIM:615888] (RAP1B, RASGRP2) 2.362 0.0497 0.0497
Bleeding disorder, platelet-type, 24 (BDPLT24) [MIM:619271] (ITGB3, TLN1) 5.114 0.0289 0.0577
Blepharocheilodontic syndrome Blepharocheilodontic syndrome 1 (BCDS1) [MIM:119580] (CDH1, CDH1) 3.787 0.00525 0.00525
Blepharophimosis-impaired intellectual development syndrome Blepharophimosis-impaired intellectual development syndrome (BIS) [MIM:619293] (SMARCA2, SMARCA2) 2.893 0.00136 0.00136
Brachycephaly, trichomegaly, and developmental delay All phenotypes (KEAP1, NFE2L2) 2.916 0.00363 0.0109
Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) [MIM:617744] (KEAP1, NFE2L2) 2.916 0.00363 0.00726
Brachydactyly All phenotypes (IHH, CDON) 2.935 0.0235 0.0875
All phenotypes (IHH, BOC) 2.865 0.0257 0.0875
All phenotypes (BMP2, NOG) 2.565 0.000293 0.00249
All phenotypes (BMP7, NOG) 1.892 0.0115 0.0649
All phenotypes (GDF5, NOG) 1.762 0.000269 0.00249
Brachydactyly A1 (BDA1) [MIM:112500] (IHH, CDON) 2.935 0.0235 0.0386
Brachydactyly A1 (BDA1) [MIM:112500] (IHH, BOC) 2.865 0.0257 0.0386
Brachydactyly B2 (BDB2) [MIM:611377] (BMP2, NOG) 2.565 0.000293 0.00117
Brachydactyly B2 (BDB2) [MIM:611377] (GDF5, NOG) 2.214 0.000954 0.00191
Brachydactyly B2 (BDB2) [MIM:611377] (BMP7, NOG) 1.892 0.0115 0.0153
Breast cancer All phenotypes (PLCG1, PIK3CA) 6.253 0.000255 0.00255
All phenotypes (HLA-A, PIK3CA) 5.891 0.000421 0.00281
All phenotypes (PIK3CA, GRB2) 5.476 0.000746 0.00373
All phenotypes (BRCA2, PALB2) 4.839 9.17e-6 0.000183
All phenotypes (BRCA1, ATRIP) 3.452 0.00207 0.00689
All phenotypes (BRCA1, BRAT1) 3.452 0.00207 0.00689
All phenotypes (BRCA1, RBBP8) 2.789 0.00756 0.0216
All phenotypes (BRCA1, ACACA) 2.578 0.0113 0.0283
All phenotypes (BRCA1, ABRAXAS1) 2.179 0.0239 0.0523
All phenotypes (BRCA1, BRIP1) 2.130 0.0262 0.0523
All phenotypes (RAD51C, XRCC3) 1.763 0.0417 0.0757
Breast cancer (BC) [MIM:114480] (PLCG1, PIK3CA) 6.253 0.000255 0.0023
Breast cancer (BC) [MIM:114480] (HLA-A, PIK3CA) 5.891 0.000421 0.00253
Breast cancer (BC) [MIM:114480] (PIK3CA, GRB2) 5.476 0.000746 0.00336
Breast cancer (BC) [MIM:114480] (BRCA2, PALB2) 4.839 9.17e-6 0.000165
Breast cancer (BC) [MIM:114480] (BRCA1, ATRIP) 3.452 0.00207 0.0062
Breast cancer (BC) [MIM:114480] (BRCA1, BRAT1) 3.452 0.00207 0.0062
Breast cancer (BC) [MIM:114480] (BRCA1, RBBP8) 2.789 0.00756 0.0194
Breast cancer (BC) [MIM:114480] (BRCA1, ACACA) 2.578 0.0113 0.0255
Breast cancer (BC) [MIM:114480] (BRCA1, ABRAXAS1) 2.179 0.0239 0.0471
Breast cancer (BC) [MIM:114480] (BRCA1, BRIP1) 2.130 0.0262 0.0471
Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] (BRCA1, BARD1) 3.230 0.0114 0.0114
Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399] (RAD51C, XRCC3) 1.763 0.0417 0.0833
Bryant-Li-Bhoj neurodevelopmental syndrome All phenotypes (H3-3B, MORC3) 1.948 0.0397 0.485
All phenotypes (RPS27A, H3-3B) 1.469 0.0494 0.485
All phenotypes (UBB, H3-3B) 1.469 0.0494 0.485
Buratti-Harel syndrome Buratti-Harel syndrome (BURHAS) [MIM:619314] (SIAH1, AXIN2) 2.579 0.0391 0.156
CIMDAG syndrome CIMDAG syndrome (CIMDAG) [MIM:619273] (VPS4A, VPS4A) 1.836 0.00616 0.00616
CLAPO syndrome CLAPO syndrome (CLAPO) [MIM:613089] (PLCG1, PIK3CA) 6.253 0.0131 0.0447
CLAPO syndrome (CLAPO) [MIM:613089] (HLA-A, PIK3CA) 5.891 0.0168 0.0447
CLAPO syndrome (CLAPO) [MIM:613089] (PIK3CA, GRB2) 5.476 0.0223 0.0447
CLOVE syndrome Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] (PLCG1, PIK3CA) 6.253 0.0131 0.0447
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] (HLA-A, PIK3CA) 5.891 0.0168 0.0447
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] (PIK3CA, GRB2) 5.476 0.0223 0.0447
Camurati-Engelmann disease Camurati-Engelmann disease (CAEND) [MIM:131300] (TGFB1, TGFB1) 0.666 0.0395 0.0395
Cardiofaciocutaneous syndrome All phenotypes (BUB1, MAP2K1) 2.879 0.0232 0.349
All phenotypes (KRAS, SOS1) 1.518 0.00519 0.197
Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] (KRAS, SOS1) 1.518 0.00519 0.0883
Cardiofaciocutaneous syndrome 3 (CFC3) [MIM:615279] (BUB1, MAP2K1) 2.879 0.0232 0.116
Cardiomyopathy All phenotypes (BAG3, HSPA1A) 2.261 0.0135 0.103
All phenotypes (ACTB, ACTC1) 2.100 0.01 0.0875
All phenotypes (BAG3, HSPA8) 2.084 0.0192 0.13
All phenotypes (ACTC1, ACTBL2) 1.814 0.0472 0.288
All phenotypes (CFL1, ACTC1) 1.796 0.00828 0.0842
All phenotypes (MYL3, MYH7) 1.418 8.6e-10 5.25e-8
All phenotypes (TPM1, TNNI3) 1.414 0.00292 0.0445
All phenotypes (LMNA, LMNB2) 1.042 0.00243 0.0445
All phenotypes (LMNA, LMNB1) 1.032 0.00262 0.0445
All phenotypes (LMNA, LMNA) 0.493 0.00684 0.0835
Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] (LMNA, LMNB2) 1.051 0.00323 0.0121
Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] (LMNA, LMNB1) 1.040 0.00346 0.0121
Cardiomyopathy, dilated, 1A (CMD1A) [MIM:115200] (LMNA, LMNA) 0.471 0.0138 0.0323
Cardiomyopathy, dilated, 1D (CMD1D) [MIM:601494] (TPM1, TNNT2) 2.420 0.0427 0.0427
Cardiomyopathy, dilated, 1HH (CMD1HH) [MIM:613881] (BAG3, HSPA1A) 2.261 0.0135 0.0192
Cardiomyopathy, dilated, 1HH (CMD1HH) [MIM:613881] (BAG3, HSPA8) 2.084 0.0192 0.0192
Cardiomyopathy, dilated, 1S (CMD1S) [MIM:613426] (MYH7, ACTC1) 3.430 0.00041 0.00164
Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098] (ACTB, ACTC1) 2.421 0.0039 0.0273
Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098] (ACTC1, ACTBL2) 2.136 0.0251 0.117
Cardiomyopathy, familial hypertrophic, 11 (CMH11) [MIM:612098] (CFL1, ACTC1) 2.118 0.00237 0.0273
Cardiomyopathy, familial hypertrophic, 1 (CMH1) [MIM:192600] (MYL3, MYH7) 2.156 2.7e-15 1.62e-14
Cardiomyopathy, familial hypertrophic, 7 (CMH7) [MIM:613690] (TPM1, TNNI3) 1.617 0.00643 0.0257
Cardiomyopathy, familial hypertrophic, 8 (CMH8) [MIM:608751] (MYL3, MYH7) 0.991 0.0323 0.0323
Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] (TPM1, TNNI3) 1.907 0.011 0.0441
Cataract All phenotypes (EPHA2, PTPRR) 5.098 0.0289 0.546
Cataract 6, multiple types (CTRCT6) [MIM:116600] (EPHA2, PTPRR) 5.098 0.0289 0.0578
Cerebellar atrophy, visual impairment, and psychomotor retardation All phenotypes (SPTAN1, SPTBN4) 6.174 0.0139 0.129
All phenotypes (SPTAN1, SPTAN1) 5.382 0.024 0.129
All phenotypes (SPTB, SPTAN1) 5.067 0.0298 0.129
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia (SPG91) [MIM:620538] (SPTAN1, SPTBN4) 6.174 0.0139 0.0398
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia (SPG91) [MIM:620538] (SPTAN1, SPTAN1) 5.382 0.024 0.0398
Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia (SPG91) [MIM:620538] (SPTB, SPTAN1) 5.067 0.0298 0.0398
Cerebral amyloid angiopathy All phenotypes (APP, PITRM1) 5.675 1.25e-5 9.43e-5
All phenotypes (APP, ) 5.523 1.72e-5 9.43e-5
All phenotypes (APP, LCN2) 5.144 3.75e-5 0.000103
All phenotypes (IGHG1, APP) 5.144 3.75e-5 0.000103
All phenotypes (APP, ) 5.090 0.00127 0.00174
All phenotypes (APP, IDE) 4.597 0.000116 0.000256
All phenotypes (IGKC, APP) 4.452 0.00303 0.00371
All phenotypes (APP, PSEN1) 3.938 0.000452 0.000828
All phenotypes (APP, PSEN2) 3.800 0.000599 0.000941
All phenotypes (APP, APP) 1.323 0.0255 0.0281
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, PITRM1) 5.675 1.25e-5 8.58e-5
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, ) 5.523 1.72e-5 8.58e-5
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, LCN2) 5.144 3.75e-5 9.39e-5
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (IGHG1, APP) 5.144 3.75e-5 9.39e-5
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, ) 5.090 0.00127 0.00159
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, IDE) 4.597 0.000116 0.000233
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (IGKC, APP) 4.452 0.00303 0.00337
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, PSEN1) 3.938 0.000452 0.000753
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, PSEN2) 3.800 0.000599 0.000856
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, APP) 1.323 0.0255 0.0255
Cerebral cavernous malformations All phenotypes (HLA-A, PIK3CA) 6.306 0.000212 0.00169
All phenotypes (PLCG1, PIK3CA) 5.668 0.0195 0.0781
All phenotypes (PIK3CA, GRB2) 4.891 0.0333 0.0889
Cerebral cavernous malformations 4 (CCM4) [MIM:619538] (HLA-A, PIK3CA) 6.306 0.000212 0.00127
Cerebral cavernous malformations 4 (CCM4) [MIM:619538] (PLCG1, PIK3CA) 5.668 0.0195 0.0586
Cerebral cavernous malformations 4 (CCM4) [MIM:619538] (PIK3CA, GRB2) 4.891 0.0333 0.0667
Cerebrocostomandibular syndrome Cerebrocostomandibular syndrome (CCMS) [MIM:117650] (SNRPB, SF3A3) 2.694 0.00057 0.00057
Charcot-Marie-Tooth disease All phenotypes (GJB1, GJB1) 0.217 0.0237 0.285
Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] (GJB1, GJB1) 0.217 0.0237 0.0474
Cherubism Cherubism (CRBM) [MIM:118400] (SH3BP2, TNKS2) 3.492 4.38e-8 4.38e-8
Chronic infantile neurologic cutaneous and articular syndrome Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] (EIF2AK2, NLRP3) 4.349 0.00431 0.0129
Cirrhosis Cirrhosis (CIRRH) [MIM:215600] (KRT8, KRT8) 4.164 0.000174 0.000174
Coagulation factor deficiency All phenotypes (F2, NID2) 3.048 0.0231 0.148
All phenotypes (F12, APP) 2.803 0.000388 0.0124
All phenotypes (F2, F5) 2.429 0.00443 0.0698
All phenotypes (F2, F2R) 1.874 0.00655 0.0698
All phenotypes (F2, SERPINC1) 1.855 0.0181 0.145
Factor II deficiency (FA2D) [MIM:613679] (F2, NID2) 3.048 0.0231 0.0983
Factor II deficiency (FA2D) [MIM:613679] (F2, F5) 2.429 0.00443 0.0557
Factor II deficiency (FA2D) [MIM:613679] (F2, F2R) 1.874 0.00655 0.0557
Factor II deficiency (FA2D) [MIM:613679] (F2, SERPINC1) 1.855 0.0181 0.0983
Factor XII deficiency (FA12D) [MIM:234000] (F12, APP) 2.803 0.000388 0.000388
Coffin-Siris syndrome Coffin-Siris syndrome 8 (CSS8) [MIM:618362] (SMARCC2, BRD7) 2.663 0.0309 0.0557
Cohen-Gibson syndrome Cohen-Gibson syndrome (COGIS) [MIM:617561] (EED, EZH1) 1.361 0.0157 0.063
Colorectal cancer All phenotypes (PLCG1, PIK3CA) 5.446 0.000883 0.0178
All phenotypes (HLA-A, CTNNB1) 5.072 0.0297 0.113
All phenotypes (PIK3CA, GRB2) 4.668 0.00255 0.0178
All phenotypes (HRAS, PPP1R16A) 4.418 0.0468 0.128
All phenotypes (BRAF, YWHAQ) 3.224 0.0024 0.0178
All phenotypes (BRAF, YWHAB) 3.183 0.0026 0.0178
All phenotypes (BRAF, YWHAE) 3.183 0.0026 0.0178
All phenotypes (BRAF, YWHAG) 3.183 0.0026 0.0178
All phenotypes (BRAF, MAP2K1) 2.546 0.00925 0.0474
All phenotypes (BRAF, MAP2K2) 2.446 0.0112 0.0512
All phenotypes (PIK3R2, PIK3CA) 1.943 0.0343 0.113
All phenotypes (PIK3CA, PIK3R3) 1.919 0.0358 0.113
All phenotypes (BRAF, YWHAZ) 1.894 0.0326 0.113
All phenotypes (MLH1, PMS2) 1.263 0.00588 0.0344
All phenotypes (BRAF, BRAF) 0.900 0.0442 0.128
Colorectal cancer (CRC) [MIM:114500] (PLCG1, PIK3CA) 5.446 0.000883 0.00955
Colorectal cancer (CRC) [MIM:114500] (HLA-A, CTNNB1) 5.072 0.0297 0.0656
Colorectal cancer (CRC) [MIM:114500] (PIK3CA, GRB2) 4.668 0.00255 0.00955
Colorectal cancer (CRC) [MIM:114500] (BRAF, YWHAQ) 3.224 0.0024 0.00955
Colorectal cancer (CRC) [MIM:114500] (BRAF, YWHAB) 3.183 0.0026 0.00955
Colorectal cancer (CRC) [MIM:114500] (BRAF, YWHAE) 3.183 0.0026 0.00955
Colorectal cancer (CRC) [MIM:114500] (BRAF, YWHAG) 3.183 0.0026 0.00955
Colorectal cancer (CRC) [MIM:114500] (BRAF, MAP2K1) 2.546 0.00925 0.0291
Colorectal cancer (CRC) [MIM:114500] (BRAF, MAP2K2) 2.446 0.0112 0.0309
Colorectal cancer (CRC) [MIM:114500] (PIK3R2, PIK3CA) 1.943 0.0343 0.0656
Colorectal cancer (CRC) [MIM:114500] (PIK3CA, PIK3R3) 1.919 0.0358 0.0656
Colorectal cancer (CRC) [MIM:114500] (BRAF, YWHAZ) 1.894 0.0326 0.0656
Colorectal cancer (CRC) [MIM:114500] (BRAF, BRAF) 0.900 0.0442 0.0747
Lynch syndrome 2 (LYNCH2) [MIM:609310] (MLH1, PMS2) 1.276 0.00793 0.0238
Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] (HRAS, PPP1R16A) 4.418 0.0468 0.29
Combined immunodeficiency All phenotypes (TLR8, TLR8) 2.652 0.000641 0.00834
All phenotypes (TLR8, TLR7) 2.570 0.00729 0.0474
Immunodeficiency 98 with autoinflammation, X-linked (IMD98) [MIM:301078] (TLR8, TLR8) 2.652 0.000641 0.00128
Immunodeficiency 98 with autoinflammation, X-linked (IMD98) [MIM:301078] (TLR8, TLR7) 2.570 0.00729 0.00729
Complement component deficiency All phenotypes (GLA, PSAP) 2.907 0.0244 0.317
Metachromatic leukodystrophy due to saposin B deficiency (MLDSAPB) [MIM:249900] (GLA, PSAP) 2.907 0.0244 0.0487
Complement factors deficiency All phenotypes (CFH, CFHR3) 2.411 0.0485 0.167
Complement factor H deficiency (CFHD) [MIM:609814] (CFH, CFHR3) 2.411 0.0485 0.133
Congenital heart defects All phenotypes (CDC42, LRRK2) 4.992 0.0314 0.281
All phenotypes (HERC2, CDC42) 4.770 0.0366 0.281
Takenouchi-Kosaki syndrome (TKS) [MIM:616737] (CDC42, LRRK2) 4.992 0.0314 0.281
Takenouchi-Kosaki syndrome (TKS) [MIM:616737] (HERC2, CDC42) 4.770 0.0366 0.281
Congenital smooth muscle hamartoma, with or without hemihypertrophy Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (ACTB, MZT1) 5.091 6.37e-10 1.21e-8
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (ACTB, PDCL3) 4.463 8.68e-9 8.25e-8
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (SMARCA4, ACTB) 3.850 1.11e-7 7.04e-7
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (ACTB, TUBGCP6) 3.693 2.14e-7 9.96e-7
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (ACTB, NAA80) 3.644 2.62e-7 9.96e-7
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (ACTB, CCT7) 3.644 0.00993 0.00993
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (ACTB, EP400) 3.506 4.64e-7 1.47e-6
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (PLS3, ACTB) 3.341 9.23e-7 2.5e-6
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (ACTB, ACTN3) 3.158 1.97e-6 4.69e-6
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (MGMT, ACTB) 3.059 2.99e-6 6.3e-6
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (ACTB, DSTN) 2.907 5.62e-6 1.07e-5
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (ACTN2, ACTB) 2.850 7.11e-6 1.23e-5
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (ACTB, ACTR3) 2.769 9.95e-6 1.58e-5
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (ACTB, CFL2) 2.743 1.11e-5 1.62e-5
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (SPTBN2, ACTB) 2.528 2.71e-5 3.53e-5
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (CFL1, ACTB) 2.506 2.97e-5 3.53e-5
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (GSN, ACTB) 2.506 2.97e-5 3.53e-5
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (ACTB, TWF1) 2.442 3.88e-5 4.34e-5
Congenital smooth muscle hamartoma, with or without hemihypertrophy (CSMH) [MIM:620470] (ACTB, ACTB) 1.401 0.00295 0.00311
Congenital stationary night blindness All phenotypes (FYN, GUCY2D) 5.865 0.0172 0.0343
Night blindness, congenital stationary, 1I (CSNB1I) [MIM:618555] (FYN, GUCY2D) 5.865 0.0172 0.0172
Congenital sucrase-isomaltase deficiency Congenital sucrase-isomaltase deficiency (CSID) [MIM:222900] (SI, SI) 1.281 0.0206 0.0411
Corneal dystrophy All phenotypes (TGFBI, TGFBI) 2.170 0.011 0.0329
Corneal dystrophy, lattice type 1 (CDL1) [MIM:122200] (TGFBI, TGFBI) 2.578 0.0123 0.0123
Cornelia de Lange syndrome All phenotypes (SMC1A, SMC3) 1.500 0.0413 0.23
Cornelia de Lange syndrome 2 (CDLS2) [MIM:300590] (SMC1A, SMC3) 1.500 0.0413 0.0827
Cortical dysplasia complex with other brain malformations All phenotypes (TUBB3, TUBA1A) 1.664 0.0436 0.496
Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039] (TUBB3, TUBA1A) 1.664 0.0436 0.14
Corticosterone methyloxidase deficiency All phenotypes (FDX1, CYP11B2) 2.274 0.0174 0.0319
All phenotypes (CYP11B2, CYP11B2) 1.952 0.0319 0.0319
Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600] (FDX1, CYP11B2) 2.537 0.00941 0.0176
Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600] (CYP11B2, CYP11B2) 2.215 0.0176 0.0176
Cowden disease All phenotypes (PLCG1, PIK3CA) 4.668 0.0387 0.262
Cowden syndrome 5 (CWS5) [MIM:615108] (PLCG1, PIK3CA) 4.668 0.0387 0.164
Creutzfeldt-Jakob disease Creutzfeldt-Jakob disease (CJD) [MIM:123400] (PRNP, PRNP) 0.652 0.0423 0.0423
Crigler-Najjar syndrome All phenotypes (UGT1A1, UGT1A8) 1.775 0.000968 0.00492
All phenotypes (UGT1A9, UGT1A1) 1.762 0.00205 0.00546
All phenotypes (UGT1A1, UGT1A10) 1.726 0.00123 0.00492
All phenotypes (UGT1A1, UGT1A1) 1.605 0.00402 0.00643
All phenotypes (UGT1A1, UGT1A3) 1.570 0.00826 0.00944
All phenotypes (UGT1A1, UGT1A4) 1.570 0.00826 0.00944
All phenotypes (UGT1A6, UGT1A1) 1.545 0.00292 0.00583
All phenotypes (UGT1A1, UGT1A7) 1.463 0.0121 0.0121
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A10) 2.293 0.000334 0.00267
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A1) 2.119 0.00185 0.00371
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A8) 2.119 0.00185 0.00371
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A6, UGT1A1) 2.112 0.000714 0.00286
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A3) 2.014 0.00654 0.00747
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A4) 2.014 0.00654 0.00747
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A9, UGT1A1) 2.014 0.00654 0.00747
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A7) 1.907 0.0089 0.0089
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A9, UGT1A1) 1.883 0.0098 0.061
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A8) 1.725 0.0152 0.061
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A3) 1.561 0.0435 0.0768
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A4) 1.561 0.0435 0.0768
Cutis laxa All phenotypes (ATP6V1B2, ATP6V1E1) 2.199 0.0474 0.166
All phenotypes (PYCR1, PYCR1) 0.815 0.0449 0.166
Cutis laxa, autosomal recessive, 2C (ARCL2C) [MIM:617402] (ATP6V1B2, ATP6V1E1) 2.199 0.0474 0.0949
D-2-hydroxyglutaric aciduria D-2-hydroxyglutaric aciduria 2 (D2HGA2) [MIM:613657] (HLA-B, IDH2) 5.365 0.000589 0.000589
Deafness All phenotypes (CDC7, MCM2) 6.854 0.00864 0.124
All phenotypes (AIFM1, AIFM1) 3.509 0.0109 0.124
All phenotypes (AIFM1, CHCHD4) 3.509 0.0109 0.124
All phenotypes (CCT3, ACTG1) 2.225 0.0225 0.192
Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] (CCT3, ACTG1) 2.225 0.0225 0.203
Deafness, autosomal dominant, 70 (DFNA70) [MIM:616968] (CDC7, MCM2) 6.854 0.00864 0.00864
Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614] (AIFM1, AIFM1) 3.509 0.0109 0.0109
Deafness, X-linked, 5, with peripheral neuropathy (DFNX5) [MIM:300614] (AIFM1, CHCHD4) 3.509 0.0109 0.0109
Dehydrated hereditary stomatocytosis 2 All phenotypes (KCNN4, KCNN4) 1.523 0.0421 0.168
Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689] (KCNN4, KCNN4) 1.523 0.0421 0.126
Dejerine-Sottas syndrome All phenotypes (ERBB2, ABL2) 5.215 0.0269 0.0661
All phenotypes (NDUFS2, MT-ND5) 4.941 0.0323 0.0661
All phenotypes (HSP90AB1, ERBB3) 4.641 0.0397 0.0661
Leber-like hereditary optic neuropathy, autosomal recessive 2 (LHONAR2) [MIM:620569] (NDUFS2, MT-ND5) 4.941 0.0323 0.0646
Visceral neuropathy, familial, 1, autosomal recessive (VSCN1) [MIM:243180] (HSP90AB1, ERBB3) 4.641 0.0397 0.0397
Visceral neuropathy, familial, 2, autosomal recessive (VSCN2) [MIM:619465] (ERBB2, ABL2) 5.215 0.0269 0.0538
Dementia All phenotypes (MAPT, MAPT) 0.529 0.0122 0.184
Frontotemporal dementia (FTD) [MIM:600274] (MAPT, MAPT) 0.529 0.0122 0.0857
Diabetes mellitus All phenotypes (ABCC8, KCNJ11) 2.277 1.96e-7 5.88e-6
All phenotypes (INS, INSR) 1.414 0.000194 0.00194
All phenotypes (INS, IGF1R) 0.888 0.0103 0.0442
All phenotypes (INS, INS) 0.866 0.000386 0.00289
All phenotypes (INS-IGF2, INS) 0.821 0.00186 0.0112
All phenotypes (KCNJ11, KCNJ11) 0.806 3.84e-5 0.000576
All phenotypes (INS, IDE) 0.794 0.00235 0.0117
Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] (ABCC8, KCNJ11) 1.066 0.0405 0.0607
Diabetes mellitus, permanent neonatal, 2 (PNDM2) [MIM:618856] (KCNJ11, KCNJ11) 0.757 0.000613 0.00184
Diabetes mellitus, permanent neonatal, 3 (PNDM3) [MIM:618857] (ABCC8, KCNJ11) 3.231 1.98e-5 1.98e-5
Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] (INS, IGF1R) 0.981 0.00485 0.0116
Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] (INS-IGF2, INS) 0.914 0.000431 0.00212
Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] (INS, IDE) 0.887 0.000553 0.00212
Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] (INS, INSR) 0.887 0.000553 0.00212
Diabetes mellitus, permanent neonatal, 4 (PNDM4) [MIM:618858] (INS, INS) 0.860 0.000706 0.00212
Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582] (ABCC9, KCNJ11) 1.715 0.0395 0.0886
Type 2 diabetes mellitus (T2D) [MIM:125853] (INSR, SH2B1) 5.279 0.0255 0.0557
Type 2 diabetes mellitus (T2D) [MIM:125853] (SH2B2, INSR) 5.153 0.0278 0.0557
Diarrhea Diarrhea 1, secretory chloride, congenital (DIAR1) [MIM:214700] (SLC26A3, SLC26A3) 0.981 0.028 0.028
Dihydrolipoamide dehydrogenase deficiency Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] (DLD, DBT) 3.006 0.0244 0.0366
Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] (PDHX, DLD) 2.421 0.0157 0.0366
Dysfibrinogenemia Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] (F2, FGB) 6.143 0.0142 0.075
Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] (FGA, KLK6) 5.544 0.0214 0.075
Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] (F2, FGA) 4.392 0.0476 0.111
Dyskeratosis congenita All phenotypes (DKC1, DKC1) 1.968 3.12e-7 1.87e-6
Dyskeratosis congenita, X-linked (DKCX) [MIM:305000] (DKC1, DKC1) 1.968 3.12e-7 6.24e-7
Dystonia All phenotypes (SPR, SPR) 2.273 0.0428 0.257
All phenotypes (GCH1, GCH1) 0.399 0.0269 0.257
Dystonia, dopa-responsive (DRD) [MIM:128230] (GCH1, GCH1) 0.399 0.0269 0.0539
Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716] (SPR, SPR) 2.273 0.0428 0.0428
Ectodermal dysplasia All phenotypes (NFKBIA, FBXW11) 5.931 0.0164 0.459
Ectodermal dysplasia and immunodeficiency 2 (EDAID2) [MIM:612132] (NFKBIA, FBXW11) 5.931 0.0164 0.0164
Ectrodactyly-ectodermal dysplasia Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] (PPP1R13L, TP63) 3.872 6.94e-14 2.08e-13
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] (TP53BP2, TP63) 3.688 3.54e-13 5.31e-13
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] (PPP1R13B, TP63) 3.429 3.97e-9 3.97e-9
Ehlers-Danlos syndrome All phenotypes (COL3A1, COL3A1) 1.121 1.19e-11 4.74e-11
Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] (COL3A1, COL3A1) 1.161 1.3e-12 2.61e-12
Elliptocytosis All phenotypes (SPTA1, SPTB) 4.680 1.32e-19 3.97e-19
All phenotypes (SPTA1, SPTBN1) 4.242 6.22e-15 9.33e-15
Elliptocytosis 2 (EL2) [MIM:130600] (SPTA1, SPTB) 5.117 2.74e-16 5.49e-16
Elliptocytosis 2 (EL2) [MIM:130600] (SPTA1, SPTBN1) 4.242 6.22e-15 6.22e-15
Elliptocytosis 3 (EL3) [MIM:617948] (SPTA1, SPTB) 4.203 2.43e-5 4.85e-5
Elliptocytosis 3 (EL3) [MIM:617948] (SPTB, SPTAN1) 3.343 0.000251 0.000251
Emery-Dreifuss muscular dystrophy All phenotypes (LMNA, MAPRE2) 1.450 0.00848 0.0594
Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] (LMNA, MAPRE2) 1.307 0.0223 0.156
Epidermolysis bullosa All phenotypes (KRT14, KRT76) 1.508 0.000257 0.000964
All phenotypes (KRT14, KRT2) 1.481 0.000304 0.000964
All phenotypes (KRT14, KRT4) 1.481 0.000304 0.000964
All phenotypes (KRT14, KRT6C) 1.481 0.000304 0.000964
All phenotypes (KRT14, KRT84) 1.481 0.000304 0.000964
All phenotypes (KRT86, KRT14) 1.481 0.000304 0.000964
All phenotypes (KRT14, KRT6A) 1.455 0.000359 0.000964
All phenotypes (KRT14, KRT6B) 1.455 0.000359 0.000964
All phenotypes (KRT14, KRT77) 1.455 0.000359 0.000964
All phenotypes (KRT14, KRT80) 1.455 0.000359 0.000964
All phenotypes (KRT14, KRT81) 1.455 0.000359 0.000964
All phenotypes (KRT14, KRT85) 1.455 0.000359 0.000964
All phenotypes (KRT14, PRPH) 1.455 0.000359 0.000964
All phenotypes (KRT75, KRT14) 1.455 0.000359 0.000964
All phenotypes (KRT14, KRT3) 1.429 0.000422 0.000964
All phenotypes (KRT14, KRT7) 1.429 0.000422 0.000964
All phenotypes (KRT14, KRT72) 1.429 0.000422 0.000964
All phenotypes (KRT14, KRT78) 1.429 0.000422 0.000964
All phenotypes (KRT14, KRT79) 1.429 0.000422 0.000964
All phenotypes (KRT14, KRT8) 1.429 0.000422 0.000964
All phenotypes (KRT14, DES) 1.378 0.000577 0.00126
All phenotypes (KRT14, KRT5) 1.323 4.78e-5 0.000964
All phenotypes (KRT5, KRT12) 1.200 0.0137 0.0275
All phenotypes (KRT5, KRT24) 1.200 0.0137 0.0275
All phenotypes (KRT18, KRT5) 1.105 0.0366 0.0671
All phenotypes (KRT5, KRT17) 1.105 0.0366 0.0671
All phenotypes (KRT13, KRT5) 1.079 0.0399 0.0671
All phenotypes (KRT5, KRT20) 1.079 0.0399 0.0671
All phenotypes (KRT16, KRT5) 1.053 0.0434 0.0671
All phenotypes (KRT5, KRT32) 1.053 0.0434 0.0671
All phenotypes (KRT5, KRT35) 1.053 0.0434 0.0671
All phenotypes (KRT5, DES) 1.027 0.047 0.0684
All phenotypes (KRT5, KRT15) 1.027 0.047 0.0684
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT76) 1.624 0.00672 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT2) 1.597 0.00734 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT4) 1.597 0.00734 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT5) 1.597 0.00734 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT6C) 1.597 0.00734 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT84) 1.597 0.00734 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT86, KRT14) 1.597 0.00734 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT6A) 1.570 0.008 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT6B) 1.570 0.008 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT77) 1.570 0.008 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT80) 1.570 0.008 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT81) 1.570 0.008 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT85) 1.570 0.008 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, PRPH) 1.570 0.008 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT75, KRT14) 1.570 0.008 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT3) 1.544 0.0087 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT7) 1.544 0.0087 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT72) 1.544 0.0087 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT78) 1.544 0.0087 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT79) 1.544 0.0087 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, KRT8) 1.544 0.0087 0.00953
Epidermolysis bullosa simplex 1C, localized (EBS1C) [MIM:131800] (KRT14, DES) 1.494 0.0103 0.0107
Epidermolytic hyperkeratosis All phenotypes (KRT1, DES) 1.909 0.00134 0.00376
All phenotypes (KRT1, KRT40) 1.859 0.00159 0.00376
All phenotypes (KRT1, KRT33B) 1.811 0.00188 0.00376
All phenotypes (KRT37, KRT1) 1.811 0.00188 0.00376
All phenotypes (KRT1, KRT10) 0.766 0.0143 0.0229
Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] (KRT1, DES) 1.909 0.00134 0.00329
Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] (KRT1, KRT40) 1.859 0.00159 0.00329
Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] (KRT1, KRT33B) 1.811 0.00188 0.00329
Epidermolytic hyperkeratosis 1 (EHK1) [MIM:113800] (KRT37, KRT1) 1.811 0.00188 0.00329
Epilepsy All phenotypes (GRIN2D, GRIN2B) 5.115 0.0285 0.16
All phenotypes (GRIN2B, GRIN2B) 4.893 0.00166 0.0263
All phenotypes (ATP6V0A1, ATP6V0B) 4.802 0.00129 0.0238
All phenotypes (SPTBN1, SPTAN1) 4.607 0.041 0.198
All phenotypes (FBXO5, FZR1) 4.138 0.000183 0.0095
All phenotypes (ATP6V0C, ATP6V0A1) 3.775 0.00533 0.0592
All phenotypes (CYFIP2, WASF2) 3.596 0.000565 0.0157
All phenotypes (SNAP23, STX1B) 2.859 0.019 0.141
All phenotypes (USP8, YWHAG) 2.790 0.0209 0.144
All phenotypes (YWHAG, STK11) 2.749 0.0221 0.144
All phenotypes (MAST3, MELK) 2.557 0.000833 0.0185
All phenotypes (YWHAG, BAIAP2) 2.459 0.0331 0.175
All phenotypes (CLCN2, CLCN2) 2.353 0.0383 0.193
All phenotypes (GABRB1, GABRA2) 2.013 0.00266 0.0368
All phenotypes (GABRA2, GABRB2) 1.446 0.00666 0.0672
All phenotypes (GABRG2, GABRB2) 1.290 0.0127 0.101
All phenotypes (KCNT1, KCNT1) 1.282 0.0113 0.0963
All phenotypes (GABRB3, GABRA2) 1.214 0.000257 0.0095
All phenotypes (GABRG2, GABRA5) 1.110 0.00388 0.0478
All phenotypes (CHRNB2, CHRNA4) 1.091 0.0485 0.215
All phenotypes (GABRG2, GABRB3) 1.034 0.000159 0.0095
All phenotypes (HCN1, HCN1) 0.989 0.00902 0.0834
All phenotypes (GABRD, GABRB3) 0.954 0.0256 0.158
All phenotypes (GABRB3, GABRA4) 0.925 0.0288 0.16
All phenotypes (GABRB3, GABRB3) 0.791 0.0494 0.215
Developmental and epileptic encephalopathy 104 (DEE104) [MIM:619970] (ATP6V0A1, ATP6V0B) 4.802 0.00129 0.00257
Developmental and epileptic encephalopathy 104 (DEE104) [MIM:619970] (ATP6V0C, ATP6V0A1) 3.775 0.00533 0.00533
Developmental and epileptic encephalopathy 108 (DEE108) [MIM:620115] (MAST3, MELK) 2.557 0.000833 0.000833
Developmental and epileptic encephalopathy 109 (DEE109) [MIM:620145] (FBXO5, FZR1) 4.138 0.000183 0.000183
Developmental and epileptic encephalopathy 14 (DEE14) [MIM:614959] (KCNT1, KCNT1) 1.382 0.0229 0.0229
Developmental and epileptic encephalopathy 24 (DEE24) [MIM:615871] (HCN1, HCN1) 1.060 0.0205 0.0616
Developmental and epileptic encephalopathy 27 (DEE27) [MIM:616139] (GRIN2D, GRIN2B) 5.115 0.0285 0.0428
Developmental and epileptic encephalopathy 27 (DEE27) [MIM:616139] (GRIN2B, GRIN2B) 4.893 0.00166 0.00498
Developmental and epileptic encephalopathy 43 (DEE43) [MIM:617113] (GABRB3, GABRA2) 0.960 0.0415 0.088
Developmental and epileptic encephalopathy 56 (DEE56) [MIM:617665] (USP8, YWHAG) 2.790 0.0209 0.198
Developmental and epileptic encephalopathy 56 (DEE56) [MIM:617665] (YWHAG, STK11) 2.749 0.0221 0.198
Developmental and epileptic encephalopathy 56 (DEE56) [MIM:617665] (YWHAG, BAIAP2) 2.459 0.0331 0.198
Developmental and epileptic encephalopathy 5 (DEE5) [MIM:613477] (SPTBN1, SPTAN1) 4.607 0.041 0.0575
Developmental and epileptic encephalopathy 65 (DEE65) [MIM:618008] (CYFIP2, WASF2) 3.596 0.000565 0.000565
Developmental and epileptic encephalopathy 74 (DEE74) [MIM:618396] (GABRG2, GABRB3) 1.205 0.00666 0.0333
Developmental and epileptic encephalopathy 74 (DEE74) [MIM:618396] (GABRG2, GABRA5) 1.037 0.0438 0.11
Developmental and epileptic encephalopathy 78 (DEE78) [MIM:618557] (GABRB1, GABRA2) 2.134 0.00471 0.00666
Developmental and epileptic encephalopathy 78 (DEE78) [MIM:618557] (GABRB3, GABRA2) 1.495 0.00561 0.00666
Developmental and epileptic encephalopathy 78 (DEE78) [MIM:618557] (GABRA2, GABRB2) 1.446 0.00666 0.00666
Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] (SNAP23, STX1B) 2.859 0.019 0.095
Erythrocytosis All phenotypes (EGLN2, EPAS1) 4.406 1.1e-8 4.96e-8
All phenotypes (EPAS1, EGLN3) 4.406 1.1e-8 4.96e-8
All phenotypes (VHL, EPAS1) 4.236 2.22e-5 4.99e-5
All phenotypes (EPAS1, EGLN1) 3.224 4.64e-7 1.39e-6
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EPAS1, EGLN1) 4.480 8.1e-9 1.47e-8
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EGLN2, EPAS1) 4.406 1.1e-8 1.47e-8
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EPAS1, EGLN3) 4.406 1.1e-8 1.47e-8
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (VHL, EPAS1) 4.236 2.22e-5 2.22e-5
Exudative vitreoretinopathy All phenotypes (NDP, FZD4) 1.229 0.00412 0.0165
FG syndrome FG syndrome 4 (FGS4) [MIM:300422] (CASK, CASKIN1) 5.725 0.0189 0.0378
FG syndrome 4 (FGS4) [MIM:300422] (CASK, SRPK2) 4.515 0.0437 0.0437
Fabry disease Fabry disease (FD) [MIM:301500] (GLA, GLA) 0.700 0.00953 0.0191
Faciocutaneoskeletal syndrome Costello syndrome (CSTLO) [MIM:218040] (HRAS, RASA1) 1.793 0.00012 0.000522
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RASGRF1) 1.755 0.000149 0.000522
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RIN1) 1.511 0.00448 0.00535
Costello syndrome (CSTLO) [MIM:218040] (HRAS, NF1) 1.464 0.012 0.012
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RASGRP4) 1.373 0.00339 0.00535
Costello syndrome (CSTLO) [MIM:218040] (RGL2, HRAS) 1.309 0.00458 0.00535
Costello syndrome (CSTLO) [MIM:218040] (HRAS, SOS1) 0.975 0.000301 0.000702
Familial advanced sleep-phase syndrome Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224] (GRK2, CSNK1D) 3.654 0.00631 0.0379
Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224] (CSNK1D, MARK4) 2.704 0.0235 0.0559
Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224] (CSNK1D, MAPK14) 2.581 0.0279 0.0559
Fanconi anemia All phenotypes (BRCA1, ATRIP) 5.037 0.0305 0.162
All phenotypes (BRCA1, BRAT1) 5.037 0.0305 0.162
All phenotypes (BRCA1, RBBP8) 4.374 0.0482 0.174
All phenotypes (BRCA2, SEM1) 2.784 0.0263 0.162
Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] (BRCA2, SEM1) 2.784 0.0263 0.0526
Fanconi anemia, complementation group S (FANCS) [MIM:617883] (BRCA1, ATRIP) 5.037 0.0305 0.0761
Fanconi anemia, complementation group S (FANCS) [MIM:617883] (BRCA1, BRAT1) 5.037 0.0305 0.0761
Fanconi anemia, complementation group S (FANCS) [MIM:617883] (BRCA1, RBBP8) 4.374 0.0482 0.0761
Fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] (FKBP1B, ACVR1) 2.935 0.00548 0.0164
Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] (FKBP1A, ACVR1) 2.350 0.0168 0.0252
Fibrosis of extraocular muscles All phenotypes (KIF21A, KIF21A) 3.651 2.57e-8 7.72e-8
All phenotypes (MAPT, TUBB3) 3.550 2.11e-5 3.17e-5
Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] (KIF21A, KIF21A) 3.651 2.57e-8 2.57e-8
Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638] (MAPT, TUBB3) 3.550 2.11e-5 4.23e-5
Focal segmental glomerulosclerosis All phenotypes (ACTN4, IQGAP1) 5.340 4.29e-5 0.000343
All phenotypes (LMX1B, HOXA1) 4.030 0.00375 0.015
Focal segmental glomerulosclerosis 10 (FSGS10) [MIM:256020] (LMX1B, HOXA1) 4.030 0.00375 0.00375
Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] (ACTN4, IQGAP1) 5.340 4.29e-5 0.000258
Frontometaphyseal dysplasia Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137] (MAP3K7, HSP90AA1) 3.149 0.0161 0.0644
Frontotemporal All phenotypes (SPTLC1, SPTLC1) 4.957 0.0318 0.165
All phenotypes (SPTLC1, ORMDL3) 3.083 0.00164 0.0197
Amyotrophic lateral sclerosis 27, juvenile (ALS27) [MIM:620285] (SPTLC1, SPTLC1) 4.957 0.0318 0.0318
Amyotrophic lateral sclerosis 27, juvenile (ALS27) [MIM:620285] (SPTLC1, ORMDL3) 3.083 0.00164 0.00329
Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 (FTDALS7) [MIM:600795] (CHMP4B, CHMP2B) 1.693 0.0412 0.165
Galactosemia 1 All phenotypes (GALT, GALT) 0.330 0.0306 0.0613
Galactosemia 1 (GALAC1) [MIM:230400] (GALT, GALT) 0.330 0.0306 0.0306
Galloway-Mowat syndrome All phenotypes (TP53RK, OSGEP) 1.513 0.00324 0.00972
Galloway-Mowat syndrome 3 (GAMOS3) [MIM:617729] (TP53RK, OSGEP) 1.711 0.00245 0.00245
Gastric cancer All phenotypes (KRAS, TRBC1) 4.170 2.66e-5 0.00027
All phenotypes (HLA-A, KRAS) 3.977 2.38e-6 4.99e-5
All phenotypes (, KRAS) 3.655 0.000108 0.00027
All phenotypes (HLA-A, KRAS) 3.655 0.000108 0.00027
All phenotypes (HLA-Cw, KRAS) 3.655 0.000108 0.00027
All phenotypes (KRAS, HLA-A) 3.655 0.000108 0.00027
All phenotypes (KRAS, HLA-C) 3.655 0.000108 0.00027
All phenotypes (KRAS, PLAAT3) 2.840 0.000116 0.00027
All phenotypes (KRAS, SOS2) 2.070 0.000182 0.000383
All phenotypes (KRAS, NF1) 1.807 0.0142 0.0249
All phenotypes (KRAS, PPIA) 1.755 0.0458 0.074
All phenotypes (KRAS, SOS1) 1.518 0.00181 0.00346
Gastric cancer (GASC) [MIM:613659] (KRAS, TRBC1) 4.170 2.66e-5 0.000244
Gastric cancer (GASC) [MIM:613659] (HLA-A, KRAS) 3.977 2.38e-6 4.52e-5
Gastric cancer (GASC) [MIM:613659] (, KRAS) 3.655 0.000108 0.000244
Gastric cancer (GASC) [MIM:613659] (HLA-A, KRAS) 3.655 0.000108 0.000244
Gastric cancer (GASC) [MIM:613659] (HLA-Cw, KRAS) 3.655 0.000108 0.000244
Gastric cancer (GASC) [MIM:613659] (KRAS, HLA-A) 3.655 0.000108 0.000244
Gastric cancer (GASC) [MIM:613659] (KRAS, HLA-C) 3.655 0.000108 0.000244
Gastric cancer (GASC) [MIM:613659] (KRAS, PLAAT3) 2.840 0.000116 0.000244
Gastric cancer (GASC) [MIM:613659] (KRAS, SOS2) 2.070 0.000182 0.000346
Gastric cancer (GASC) [MIM:613659] (KRAS, NF1) 1.807 0.0142 0.0225
Gastric cancer (GASC) [MIM:613659] (KRAS, PPIA) 1.755 0.0458 0.067
Gastric cancer (GASC) [MIM:613659] (KRAS, SOS1) 1.518 0.00181 0.00313
Gerstmann-Straussler disease Gerstmann-Straussler disease (GSD) [MIM:137440] (PRNP, PRNP) 0.652 0.0269 0.0269
Gitelman syndrome Gitelman syndrome (GTLMNS) [MIM:263800] (SLC12A3, SLC12A3) 0.512 0.0161 0.0161
Glanzmann thrombasthenia All phenotypes (FGG, ITGB3) 3.546 0.000365 0.00292
All phenotypes (FN1, ITGB3) 2.192 0.0108 0.0431
Glanzmann thrombasthenia 2 (GT2) [MIM:619267] (FGG, ITGB3) 3.546 0.000365 0.00255
Glanzmann thrombasthenia 2 (GT2) [MIM:619267] (FN1, ITGB3) 2.192 0.0108 0.0378
Glioma Glioma (GLM) [MIM:137800] (H3-3B, ZMYND8) 3.322 0.0127 0.205
Glioma (GLM) [MIM:137800] (H3-3B, SETD2) 2.791 0.026 0.205
Glutaric aciduria All phenotypes (ETFA, ETFB) 1.299 0.0413 0.165
Growth hormone insensitivity Growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive (GHISID1) [MIM:245590] (JAK1, STAT5B) 4.765 0.0364 0.0729
Growth retardation All phenotypes (BCL11A, BCL11A) 2.688 0.0299 0.0661
All phenotypes (CSNK2B, CSNK2A1) 2.535 0.0397 0.0661
All phenotypes (CSNK2A1, CDK11A) 2.448 0.00932 0.0466
Intellectual developmental disorder with persistence of fetal hemoglobin (IDPFH) [MIM:617101] (BCL11A, BCL11A) 2.688 0.0299 0.0299
Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] (CSNK2B, CSNK2A1) 2.535 0.0397 0.0793
Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] (CSNK2A1, CDK11A) 2.448 0.00932 0.0373
Hartnup disorder All phenotypes (SETD1A, WDR5) 4.744 0.0373 0.221
All phenotypes (DKC1, SHQ1) 4.654 0.0397 0.221
All phenotypes (CATSPER2, CACNA1I) 2.534 0.0397 0.221
All phenotypes (AFG2B, AIRIM) 1.975 0.0384 0.221
All phenotypes (EIF4A2, PDCD4) 1.574 0.0315 0.221
All phenotypes (GRIA2, GRIA3) 1.565 0.000734 0.0286
All phenotypes (GRIN1, GRIN2A) 0.542 0.024 0.221
Epilepsy, focal, with speech disorder and with or without impaired intellectual development (FESD) [MIM:245570] (GRIN1, GRIN2A) 0.542 0.024 0.048
Neurodevelopmental disorder with dystonia and seizures (NEDDS) [MIM:619922] (DKC1, SHQ1) 4.654 0.0397 0.0397
Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) [MIM:619616] (AFG2B, AIRIM) 1.975 0.0384 0.0768
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures (NEDHSS) [MIM:620455] (EIF4A2, PDCD4) 1.574 0.0315 0.0944
Neurodevelopmental disorder with language impairment and behavioral abnormalities (NEDLIB) [MIM:618917] (GRIA2, GRIA3) 1.565 0.000734 0.00147
Neurodevelopmental disorder with speech impairment and dysmorphic facies (NEDSID) [MIM:619056] (SETD1A, WDR5) 4.744 0.0373 0.0373
Neurodevelopmental disorder with speech impairment and with or without seizures (NEDSIS) [MIM:620114] (CATSPER2, CACNA1I) 2.534 0.0397 0.0795
Hematopoiesis Cyclic haematopoiesis (CH) [MIM:162800] (ELANE, GZMB) 0.873 0.0209 0.0627
Hemifacial myohyperplasia Hemifacial myohyperplasia (HFMH) [MIM:606773] (PLCG1, PIK3CA) 6.668 0.000128 0.00077
Hemifacial myohyperplasia (HFMH) [MIM:606773] (PIK3CA, GRB2) 5.891 0.000376 0.00113
Hemifacial myohyperplasia (HFMH) [MIM:606773] (HLA-A, PIK3CA) 5.306 0.0251 0.0427
Hemifacial myohyperplasia (HFMH) [MIM:606773] (PIK3R2, PIK3CA) 2.581 0.0345 0.0427
Hemifacial myohyperplasia (HFMH) [MIM:606773] (PIK3CA, PIK3R3) 2.557 0.0356 0.0427
Hemochromatosis All phenotypes (HAMP, SLC40A1) 1.536 0.0113 0.0789
Hemochromatosis 4 (HFE4) [MIM:606069] (HAMP, SLC40A1) 2.022 0.00484 0.00484
Hemolytic anemia All phenotypes (ABCB6, ABCB6) 1.693 0.0296 0.127
All phenotypes (PKLR, PKLR) 0.389 0.0422 0.127
Pseudohyperkalemia, familial, 2, due to red cell leak (PSHK2) [MIM:609153] (ABCB6, ABCB6) 1.693 0.0296 0.0296
Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] (PKLR, PKLR) 0.389 0.0422 0.0845
Hemophilia All phenotypes (F9, SERPINC1) 0.641 0.0302 0.106
All phenotypes (F8, F8) 0.452 0.00286 0.02
Hemophilia A (HEMA) [MIM:306700] (F8, F8) 0.452 0.00286 0.0143
Hemophilia B (HEMB) [MIM:306900] (F9, SERPINC1) 0.641 0.0302 0.0907
Hepatocellular carcinoma Hepatocellular carcinoma (HCC) [MIM:114550] (PLCG1, PIK3CA) 7.253 0.00655 0.0562
Hepatocellular carcinoma (HCC) [MIM:114550] (PIK3CA, GRB2) 6.476 0.0112 0.0562
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, PASK) 6.429 0.0116 0.0562
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, GRB7) 4.571 0.00232 0.037
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, GRB14) 4.475 0.00264 0.037
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, KDR) 3.363 0.0121 0.0562
Hirschsprung disease All phenotypes (RET, GRB10) 1.667 0.0113 0.111
All phenotypes (RET, PTK2) 1.622 0.0131 0.111
Hirschsprung disease 1 (HSCR1) [MIM:142623] (RET, GRB10) 1.667 0.0113 0.104
Hirschsprung disease 1 (HSCR1) [MIM:142623] (RET, PTK2) 1.622 0.0131 0.104
Houge-Janssens syndrome All phenotypes (PPP2CA, INTS8) 3.687 0.00014 0.00186
All phenotypes (PPP2R1A, PPP2R5C) 3.587 0.000159 0.00186
All phenotypes (PPP2R1A, PPP2R5A) 3.279 0.00263 0.00614
All phenotypes (PPP2R1A, CDC6) 2.871 0.00107 0.0046
All phenotypes (PPP2R1A, PPP2R3B) 2.871 0.00107 0.0046
All phenotypes (PPP2CA, PABIR1) 2.812 0.00142 0.0046
All phenotypes (PPP2R1A, PPP2R2D) 2.751 0.00147 0.0046
All phenotypes (PPP2R1A, PPP2R2B) 2.722 0.00159 0.0046
All phenotypes (PPP2R1A, PPP2R5D) 2.722 0.00159 0.0046
All phenotypes (PPP2R1A, PPP2R2A) 2.694 0.00171 0.0046
All phenotypes (PPP2R1A, PPP2R5B) 2.694 0.00171 0.0046
All phenotypes (PPP2R1A, PPP2R5E) 2.562 0.00241 0.00603
All phenotypes (ARPP19, PPP2CA) 2.534 0.0119 0.0231
All phenotypes (PPP2CA, PPP2R5D) 2.469 7.06e-5 0.00186
All phenotypes (PPP2CA, PPME1) 2.317 0.00508 0.0111
All phenotypes (PPP2CA, PTPA) 2.271 0.00145 0.0046
All phenotypes (PPP2CB, PPP2CA) 2.271 0.0195 0.0359
All phenotypes (PPP2CA, PPP2R5C) 2.227 0.00638 0.0131
All phenotypes (PPP2CA, PPP2R5E) 2.213 0.0217 0.0381
All phenotypes (PPP2CA, INTS6) 2.049 0.000708 0.0046
Houge-Janssens syndrome 1 (HJS1) [MIM:616355] (PPP2CA, PPP2R5D) 2.439 0.045 0.045
Houge-Janssens syndrome 2 (HJS2) [MIM:616362] (PPP2R1A, PPP2R5C) 3.587 0.000159 0.00239
Houge-Janssens syndrome 2 (HJS2) [MIM:616362] (PPP2R1A, PPP2R5A) 3.279 0.00263 0.00395
Houge-Janssens syndrome 2 (HJS2) [MIM:616362] (PPP2R1A, CDC6) 2.871 0.00107 0.0032
Houge-Janssens syndrome 2 (HJS2) [MIM:616362] (PPP2R1A, PPP2R3B) 2.871 0.00107 0.0032
Houge-Janssens syndrome 2 (HJS2) [MIM:616362] (PPP2R1A, PPP2R2D) 2.751 0.00147 0.0032
Houge-Janssens syndrome 2 (HJS2) [MIM:616362] (PPP2R1A, PPP2R2B) 2.722 0.00159 0.0032
Houge-Janssens syndrome 2 (HJS2) [MIM:616362] (PPP2R1A, PPP2R5D) 2.722 0.00159 0.0032
Houge-Janssens syndrome 2 (HJS2) [MIM:616362] (PPP2R1A, PPP2R2A) 2.694 0.00171 0.0032
Houge-Janssens syndrome 2 (HJS2) [MIM:616362] (PPP2R1A, PPP2R5B) 2.694 0.00171 0.0032
Houge-Janssens syndrome 2 (HJS2) [MIM:616362] (PPP2R1A, PPP2R5E) 2.562 0.00241 0.00395
Houge-Janssens syndrome 3 (HJS3) [MIM:618354] (PPP2CA, INTS8) 3.687 0.00014 0.00281
Houge-Janssens syndrome 3 (HJS3) [MIM:618354] (PPP2CA, PABIR1) 2.812 0.00142 0.00579
Houge-Janssens syndrome 3 (HJS3) [MIM:618354] (ARPP19, PPP2CA) 2.534 0.0119 0.0297
Houge-Janssens syndrome 3 (HJS3) [MIM:618354] (PPP2CA, PPME1) 2.317 0.00508 0.0169
Houge-Janssens syndrome 3 (HJS3) [MIM:618354] (PPP2CA, PPP2R5D) 2.308 0.00129 0.00579
Houge-Janssens syndrome 3 (HJS3) [MIM:618354] (PPP2CA, PTPA) 2.271 0.00145 0.00579
Houge-Janssens syndrome 3 (HJS3) [MIM:618354] (PPP2CB, PPP2CA) 2.271 0.0195 0.0433
Houge-Janssens syndrome 3 (HJS3) [MIM:618354] (PPP2CA, PPP2R5C) 2.227 0.00638 0.0182
Houge-Janssens syndrome 3 (HJS3) [MIM:618354] (PPP2CA, PPP2R5E) 2.213 0.0217 0.0435
Houge-Janssens syndrome 3 (HJS3) [MIM:618354] (PPP2CA, INTS6) 2.049 0.000708 0.00579
Hoyeraal-Hreidarsson syndrome Hoyeraal-Hreidarsson syndrome (HHS) [MIM:305000] (DKC1, DKC1) 1.994 0.0229 0.0229
Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] (BANF1, LMNA) 2.641 0.0383 0.153
Hypercholesterolemia All phenotypes (, PCSK9) 2.637 0.0101 0.0607
All phenotypes (LDLR, APOH) 1.436 0.0246 0.0738
All phenotypes (LDLR, PCSK9) 1.033 0.0435 0.087
Hypercholesterolemia, familial, 1 (FHCL1) [MIM:143890] (LDLR, APOH) 1.436 0.0246 0.123
Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776] (LDLR, PCSK9) 2.927 0.0268 0.0268
Hypercholesterolemia, familial, 3 (FHCL3) [MIM:603776] (, PCSK9) 2.637 0.0101 0.0202
Hyperekplexia All phenotypes (GLRA1, GLRA1) 0.896 0.000938 0.00281
All phenotypes (GLRA1, GLRB) 0.842 0.0023 0.00344
Hyperekplexia 1 (HKPX1) [MIM:149400] (GLRA1, GLRB) 1.191 6.32e-5 0.000126
Hyperekplexia 1 (HKPX1) [MIM:149400] (GLRA1, GLRA1) 0.896 0.000938 0.000938
Hyperinsulinemic hypoglycemia All phenotypes (INSR, GRB7) 5.369 0.0242 0.073
All phenotypes (INSR, IRS1) 5.279 0.0258 0.073
All phenotypes (INSR, GRB10) 5.236 0.0265 0.073
All phenotypes (INSR, GRB14) 5.236 0.0265 0.073
Hyperinsulinemic hypoglycemia, familial, 5 (HHF5) [MIM:609968] (INSR, GRB7) 5.369 0.0242 0.0265
Hyperinsulinemic hypoglycemia, familial, 5 (HHF5) [MIM:609968] (INSR, IRS1) 5.279 0.0258 0.0265
Hyperinsulinemic hypoglycemia, familial, 5 (HHF5) [MIM:609968] (INSR, GRB10) 5.236 0.0265 0.0265
Hyperinsulinemic hypoglycemia, familial, 5 (HHF5) [MIM:609968] (INSR, GRB14) 5.236 0.0265 0.0265
Leucine-induced hypoglycemia (LIH) [MIM:240800] (ABCC8, KCNJ11) 4.453 0.0456 0.0456
Hyperlipoproteinemia All phenotypes (APOE, BCL2) 2.576 1.82e-5 7.26e-5
Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] (APOE, BCL2) 2.576 1.82e-5 5.45e-5
Hypocalcemia All phenotypes (KCNJ5, KCNJ15) 1.115 0.0209 0.0493
All phenotypes (KCNJ18, KCNJ5) 1.068 0.0247 0.0493
All phenotypes (CASR, CASR) 0.990 0.000377 0.00226
Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677] (KCNJ5, KCNJ15) 1.115 0.0209 0.0247
Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677] (KCNJ18, KCNJ5) 1.068 0.0247 0.0247
Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] (CASR, CASR) 0.990 0.000377 0.000377
Hypocalciuric hypercalcemia Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] (CASR, CASR) 0.517 0.0252 0.151
Hypogonadotropic hypogonadism All phenotypes (FGF19, FGFR1) 1.217 0.0435 0.775
Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] (FGF19, FGFR1) 1.217 0.0435 0.626
Hypomyelination with brainstem and spinal cord involvement and leg spasticity Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] (DARS1, DARS1) 1.469 0.0148 0.0148
Hypophosphataemic rickets Hypophosphatemic rickets, autosomal dominant (ADHR) [MIM:193100] (FGF23, KL) 1.888 0.0197 0.0197
Hypophosphatemic nephrolithiasis/osteoporosis Osteoporosis (OSTEOP) [MIM:166710] (WNT1, WLS) 2.163 0.0498 0.0498
Ichthyosis All phenotypes (KRT15, KRT2) 1.665 0.000258 0.0063
All phenotypes (KRT19, KRT2) 1.617 0.000332 0.0063
All phenotypes (DES, KRT2) 1.324 0.0139 0.0465
All phenotypes (KRT2, KRT32) 1.299 0.0152 0.0465
All phenotypes (KRT18, KRT2) 1.274 0.0165 0.0465
All phenotypes (KRT2, KRT31) 1.274 0.0165 0.0465
All phenotypes (KRT2, KRT33B) 1.274 0.0165 0.0465
All phenotypes (KRT2, KRT40) 1.274 0.0165 0.0465
All phenotypes (KRT20, KRT2) 1.274 0.0165 0.0465
All phenotypes (KRT2, KRT12) 1.250 0.018 0.0465
All phenotypes (KRT2, KRT35) 1.250 0.018 0.0465
All phenotypes (KRT36, KRT2) 1.250 0.018 0.0465
All phenotypes (KRT13, KRT2) 1.226 0.0196 0.0465
All phenotypes (KRT2, KRT27) 1.226 0.0196 0.0465
All phenotypes (KRT37, KRT2) 1.226 0.0196 0.0465
All phenotypes (KRT38, KRT2) 1.226 0.0196 0.0465
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT15, KRT2) 1.665 0.000258 0.00398
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT19, KRT2) 1.617 0.000332 0.00398
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (DES, KRT2) 1.324 0.0139 0.0294
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT2, KRT32) 1.299 0.0152 0.0294
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT18, KRT2) 1.274 0.0165 0.0294
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT2, KRT31) 1.274 0.0165 0.0294
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT2, KRT33B) 1.274 0.0165 0.0294
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT2, KRT40) 1.274 0.0165 0.0294
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT20, KRT2) 1.274 0.0165 0.0294
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT2, KRT12) 1.250 0.018 0.0294
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT2, KRT35) 1.250 0.018 0.0294
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT36, KRT2) 1.250 0.018 0.0294
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT13, KRT2) 1.226 0.0196 0.0294
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT2, KRT27) 1.226 0.0196 0.0294
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT37, KRT2) 1.226 0.0196 0.0294
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT38, KRT2) 1.226 0.0196 0.0294
Imagawa-Matsumoto syndrome Imagawa-Matsumoto syndrome (IMMAS) [MIM:618786] (SUZ12, EZH2) 2.468 0.0059 0.00739
Imagawa-Matsumoto syndrome (IMMAS) [MIM:618786] (SUZ12, EZH1) 2.360 0.00739 0.00739
Immunodeficiency All phenotypes (NFKBIE, IKBKG) 3.252 0.014 0.417
Immunodeficiency 31A (IMD31A) [MIM:614892] (STAT1, STAT1) 1.702 0.0467 0.14
Immunodeficiency 33 (IMD33) [MIM:300636] (NFKBIE, IKBKG) 3.252 0.014 0.0701
Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] (FOXP3, FOXP3) 0.830 0.0423 0.0847
Incontinentia pigmenti Incontinentia pigmenti (IP) [MIM:308300] (NFKBIE, IKBKG) 2.614 0.00969 0.0678
Intellectual developmental disorder Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44) [MIM:617061] (TRIO, RAC1) 4.630 2.66e-6 2.66e-6
Intellectual developmental disorder with hypotonia and behavioral abnormalities Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) [MIM:618748] (BUB1, CDK8) 2.696 0.0352 0.0704
Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) [MIM:618748] (BMPR1A, CDK8) 1.790 0.0171 0.0685
Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) [MIM:123150] (FGF19, FGFR1) 4.440 0.0461 0.175
Jervell and Lange-Nielsen syndrome All phenotypes (KCNE1, KCNQ1) 2.247 0.0221 0.0662
Juvenile polyposis All phenotypes (BMPR1A, BMPR1A) 2.944 0.0259 0.17
Juvenile polyposis syndrome (JPS) [MIM:174900] (BMPR1A, BMPR1A) 2.944 0.0259 0.096
Keratinocytic non-epidermolytic nevus Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, GRB10) 2.934 0.0215 0.129
Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, RIN1) 2.297 0.00843 0.0971
Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, RASA1) 2.178 0.0108 0.0971
Keratitis-ichthyosis-deafness syndrome Keratitis-ichthyosis-deafness syndrome, autosomal dominant (KIDAD) [MIM:148210] (GJB2, GJA8) 2.007 0.00384 0.0153
Keratosis Keratosis, seborrheic (KERSEB) [MIM:182000] (PLCG1, PIK3CA) 6.838 1.12e-6 1.46e-5
Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3CA, GRB2) 6.061 5.63e-6 3.66e-5
Keratosis, seborrheic (KERSEB) [MIM:182000] (HLA-A, PIK3CA) 4.891 0.0333 0.0618
Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3R2, PIK3CA) 2.751 0.00507 0.0138
Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3CA, PIK3R3) 2.727 0.00532 0.0138
Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3R1, PIK3CA) 2.186 0.0157 0.034
Keratosis, seborrheic (KERSEB) [MIM:182000] (FGFR3, FGFR3) 2.084 0.000395 0.00171
Kniest dysplasia All phenotypes (PRKACB, PKIA) 2.679 0.00587 0.0645
All phenotypes (PRKAR1A, PRKACB) 1.886 0.0283 0.156
Cardioacrofacial dysplasia 2 (CAFD2) [MIM:619143] (PRKACB, PKIA) 2.679 0.00587 0.0117
Cardioacrofacial dysplasia 2 (CAFD2) [MIM:619143] (PRKAR1A, PRKACB) 1.886 0.0283 0.0283
Kury-Isidor syndrome Kury-Isidor syndrome (KURIS) [MIM:619762] (H2AC7, BAP1) 3.346 0.000249 0.000249
Kury-Isidor syndrome (KURIS) [MIM:619762] (UBB, BAP1) 2.742 0.000161 0.000249
Kury-Isidor syndrome (KURIS) [MIM:619762] (UBC, BAP1) 2.704 0.000183 0.000249
Leber congenital amaurosis All phenotypes (DAPK1, TUBB4B) 4.944 0.00106 0.00739
All phenotypes (TUBB, TUBB4B) 2.774 0.0214 0.0748
Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879] (DAPK1, TUBB4B) 4.944 0.00106 0.00211
Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879] (TUBB, TUBB4B) 2.774 0.0214 0.0214
Leber optic neuropathy All phenotypes (MT-ND1, MT-ND6) 2.203 0.00143 0.01
Leber hereditary optic neuropathy (LHON) [MIM:535000] (MT-ND1, MT-ND6) 1.951 0.0292 0.175
Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001] (MT-ND1, MT-ND6) 2.688 0.0241 0.0482
Left ventricular non-compaction All phenotypes (UBE2D2, MIB1) 4.962 0.0321 0.289
Left ventricular non-compaction 7 (LVNC7) [MIM:615092] (UBE2D2, MIB1) 4.962 0.0321 0.0641
Leopard syndrome All phenotypes (CD28, PTPN11) 5.162 4.39e-9 5.71e-8
All phenotypes (IRS1, PTPN11) 4.631 3.89e-8 2.53e-7
All phenotypes (ERBB2, PTPN11) 2.889 0.00137 0.00595
All phenotypes (PTPN6, PTPN11) 1.545 0.0174 0.0564
All phenotypes (PTPN11, PTPN11) 1.314 0.0335 0.0872
LEOPARD syndrome 1 (LPRD1) [MIM:151100] (CD28, PTPN11) 5.162 4.39e-9 2.2e-8
LEOPARD syndrome 1 (LPRD1) [MIM:151100] (IRS1, PTPN11) 4.631 3.89e-8 9.72e-8
LEOPARD syndrome 1 (LPRD1) [MIM:151100] (ERBB2, PTPN11) 2.889 0.00137 0.00229
LEOPARD syndrome 1 (LPRD1) [MIM:151100] (PTPN6, PTPN11) 1.545 0.0174 0.0217
LEOPARD syndrome 1 (LPRD1) [MIM:151100] (PTPN11, PTPN11) 1.314 0.0335 0.0335
Leukemia All phenotypes (KRAS, TRBC1) 4.755 5.08e-5 0.000264
All phenotypes (MET, PTPN11) 4.387 1.3e-7 1.68e-6
All phenotypes (, KRAS) 4.240 0.000148 0.000321
All phenotypes (HLA-A, KRAS) 4.240 0.000148 0.000321
All phenotypes (HLA-Cw, KRAS) 4.240 0.000148 0.000321
All phenotypes (KRAS, HLA-A) 4.240 0.000148 0.000321
All phenotypes (KRAS, HLA-C) 4.240 0.000148 0.000321
All phenotypes (HLA-Cw, NRAS) 4.104 0.00338 0.00628
All phenotypes (HLA-A, NRAS) 3.967 0.00409 0.00709
All phenotypes (KRAS, PLAAT3) 3.103 0.00158 0.00315
All phenotypes (GRB2, PTPN11) 3.024 4.78e-8 1.24e-6
All phenotypes (DNMT3A, DNMT3A) 2.812 0.0203 0.0278
All phenotypes (KRAS, NF1) 2.392 0.00691 0.0112
All phenotypes (ERBB2, PTPN11) 2.336 0.0187 0.0271
All phenotypes (PTPN6, PTPN11) 2.256 5.0e-6 4.34e-5
All phenotypes (NRAS, RASA1) 2.178 0.0488 0.0604
All phenotypes (KRAS, SOS2) 2.070 0.0135 0.0206
All phenotypes (PTPN11, PTPN11) 2.024 1.99e-5 0.000129
All phenotypes (KRAS, SOS1) 1.518 0.0426 0.0554
Leukemia, acute myelogenous (AML) [MIM:601626] (DNMT3A, DNMT3A) 2.812 0.0203 0.0406
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (KRAS, TRBC1) 4.755 5.08e-5 0.000244
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (MET, PTPN11) 4.387 1.3e-7 1.56e-6
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (, KRAS) 4.240 0.000148 0.000296
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (HLA-A, KRAS) 4.240 0.000148 0.000296
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (HLA-Cw, KRAS) 4.240 0.000148 0.000296
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (KRAS, HLA-A) 4.240 0.000148 0.000296
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (KRAS, HLA-C) 4.240 0.000148 0.000296
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (HLA-Cw, NRAS) 4.104 0.00338 0.00579
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (HLA-A, NRAS) 3.967 0.00409 0.00654
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (KRAS, PLAAT3) 3.103 0.00158 0.00291
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (GRB2, PTPN11) 3.024 4.78e-8 1.15e-6
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (KRAS, NF1) 2.392 0.00691 0.0104
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (ERBB2, PTPN11) 2.336 0.0187 0.025
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (PTPN6, PTPN11) 2.256 5.0e-6 4.0e-5
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (NRAS, RASA1) 2.178 0.0488 0.0586
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (KRAS, SOS2) 2.070 0.0135 0.0191
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (PTPN11, PTPN11) 2.024 1.99e-5 0.000119
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (KRAS, SOS1) 1.518 0.0426 0.0538
Leukodystrophy hypomyelinating All phenotypes (POLR3A, POLR1C) 2.515 0.0151 0.423
Leukodystrophy with vanishing white matter All phenotypes (EIF2B5, EIF2B4) 2.456 0.000697 0.00209
All phenotypes (EIF2B5, EIF2B1) 2.144 0.0298 0.0596
All phenotypes (EIF2B2, EIF2B5) 2.071 2.4e-5 0.000144
All phenotypes (EIF2B3, EIF2B4) 1.905 0.0415 0.0622
Leukoencephalopathy with vanishing white matter 3 (VWM3) [MIM:620313] (EIF2B3, EIF2B4) 2.445 0.0465 0.0465
Leukoencephalopathy with vanishing white matter 4 (VWM4) [MIM:620314] (EIF2B5, EIF2B4) 3.257 0.00275 0.00825
Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] (EIF2B5, EIF2B4) 2.251 0.0246 0.0298
Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] (EIF2B5, EIF2B1) 2.144 0.0298 0.0298
Leukoencephalopathy with vanishing white matter 5 (VWM5) [MIM:620315] (EIF2B2, EIF2B5) 2.071 2.4e-5 7.2e-5
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] (DARS2, DARS2) 1.687 0.000571 0.00114
Li-Fraumeni syndrome All phenotypes (TERT, POT1) 2.720 0.0353 0.123
All phenotypes (HLA-A, TP53) 1.581 0.0154 0.108
All phenotypes (TP53, TP53BP2) 1.581 0.000635 0.0133
All phenotypes (TP53, BCL2L1) 0.944 0.0211 0.111
All phenotypes (TP53, TP53BP1) 0.803 0.0275 0.115
Li-Fraumeni syndrome (LFS) [MIM:151623] (HLA-A, TP53) 1.581 0.0154 0.0875
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53BP2) 1.581 0.000635 0.0108
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, BCL2L1) 0.944 0.0211 0.0898
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53BP1) 0.803 0.0275 0.0934
Tumor predisposition syndrome 3 (TPDS3) [MIM:615848] (TERT, POT1) 2.720 0.0353 0.106
Limb-girdle muscular dystrophy All phenotypes (SMCHD1, SMCHD1) 1.626 0.0147 0.206
Facioscapulohumeral muscular dystrophy 2, digenic (FSHD2) [MIM:158901] (SMCHD1, SMCHD1) 1.626 0.0147 0.0147
Lipodystrophy All phenotypes (LMNA, MAPRE2) 2.218 0.024 0.288
Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] (LMNA, MAPRE2) 2.218 0.024 0.144
Lissencephaly All phenotypes (MAPT, TUBA1A) 3.544 1.77e-6 2.3e-5
All phenotypes (NFKB2, TUBA1A) 3.314 0.0026 0.0169
All phenotypes (NFKBIA, TUBA1A) 2.758 0.00772 0.0335
All phenotypes (TUBAL3, TUBA1A) 1.976 0.0336 0.0929
All phenotypes (TUBB4B, TUBA1A) 1.943 0.0357 0.0929
Lissencephaly 3 (LIS3) [MIM:611603] (MAPT, TUBA1A) 3.544 1.77e-6 1.24e-5
Lissencephaly 3 (LIS3) [MIM:611603] (NFKB2, TUBA1A) 3.314 0.0026 0.0091
Lissencephaly 3 (LIS3) [MIM:611603] (NFKBIA, TUBA1A) 2.758 0.00772 0.018
Lissencephaly 3 (LIS3) [MIM:611603] (TUBAL3, TUBA1A) 1.976 0.0336 0.05
Lissencephaly 3 (LIS3) [MIM:611603] (TUBB4B, TUBA1A) 1.943 0.0357 0.05
Lissencephaly with microcephaly Lissencephaly 6, with microcephaly (LIS6) [MIM:616212] (KATNA1, KATNB1) 2.436 0.0342 0.0359
Lissencephaly 6, with microcephaly (LIS6) [MIM:616212] (KATNB1, KATNAL1) 2.399 0.0359 0.0359
Loeys-Dietz syndrome All phenotypes (SMAD3, SMAD4) 1.961 0.0286 0.284
Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] (SMAD3, SMAD4) 1.961 0.0286 0.0859
Long QT syndrome All phenotypes (HCN4, KCNE2) 2.621 0.00659 0.136
All phenotypes (KCNJ2, KCNJ15) 1.102 0.000482 0.0198
All phenotypes (KCNJ18, KCNJ2) 1.075 0.000582 0.0198
All phenotypes (KCNJ2, KCNJ2) 0.696 0.00802 0.136
All phenotypes (CALM2, MYO6) 0.634 0.0297 0.404
All phenotypes (KCNQ1, KCNQ1) 0.208 0.048 0.544
Long QT syndrome 15 (LQT15) [MIM:616249] (CALM2, MYO6) 0.634 0.0297 0.356
Long QT syndrome 1 (LQT1) [MIM:192500] (KCNQ1, KCNQ1) 0.208 0.048 0.288
Long QT syndrome 6 (LQT6) [MIM:613693] (HCN4, KCNE2) 2.621 0.00659 0.00659
Long QT syndrome 7 (LQT7) [MIM:170390] (KCNJ2, KCNJ15) 1.102 0.000482 0.000873
Long QT syndrome 7 (LQT7) [MIM:170390] (KCNJ18, KCNJ2) 1.075 0.000582 0.000873
Long QT syndrome 7 (LQT7) [MIM:170390] (KCNJ2, KCNJ2) 0.696 0.00802 0.00802
Lung cancer Lung cancer (LNCR) [MIM:211980] (BRAF, MAPKAPK3) 3.113 0.0134 0.0541
Lung cancer (LNCR) [MIM:211980] (BRAF, MAPK3) 2.768 0.0215 0.0541
Lung cancer (LNCR) [MIM:211980] (BRAF, AKT1) 2.715 0.0232 0.0541
Lymphedema Facial palsy, congenital, with ptosis and velopharyngeal dysfunction (FPVEPD) [MIM:617732] (NFKB2, TUBB6) 4.845 0.0348 0.0348
Macrodactyly Macrodactyly (MADAC) [MIM:155500] (HLA-A, PIK3CA) 6.306 0.000212 0.00127
Macrodactyly (MADAC) [MIM:155500] (PLCG1, PIK3CA) 5.668 0.0195 0.0586
Macrodactyly (MADAC) [MIM:155500] (PIK3CA, GRB2) 4.891 0.0333 0.0667
Maple syrup urine disease All phenotypes (BCKDHB, BCKDHB) 1.861 0.0346 0.104
Maple syrup urine disease 1B (MSUD1B) [MIM:620698] (BCKDHB, BCKDHB) 1.861 0.0346 0.0693
Mastocytosis, cutaneous Mastocytosis, cutaneous (MASTC) [MIM:154800] (NCK2, KIT) 6.598 3.33e-8 9.98e-8
Mastocytosis, cutaneous (MASTC) [MIM:154800] (BCAR3, KIT) 6.376 6.15e-8 1.11e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (GRAP2, KIT) 6.376 6.15e-8 1.11e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, SLA2) 6.183 1.18e-9 1.06e-8
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, GRB2) 6.183 1.05e-7 1.57e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, RASA1) 6.013 1.67e-7 1.88e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, STAP1) 6.013 1.67e-7 1.88e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, VAV3) 5.920 2.93e-9 1.32e-8
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, SH2B3) 5.724 3.72e-7 3.72e-7
Mastocytosis, systemic (MASTSYS) [MIM:154800] (NCK2, KIT) 7.183 4.73e-5 0.00016
Mastocytosis, systemic (MASTSYS) [MIM:154800] (BCAR3, KIT) 6.961 6.44e-5 0.00016
Mastocytosis, systemic (MASTSYS) [MIM:154800] (GRAP2, KIT) 6.961 6.44e-5 0.00016
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, GRB2) 6.768 8.42e-5 0.00016
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, RASA1) 6.598 0.000107 0.00016
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, STAP1) 6.598 0.000107 0.00016
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, SLA2) 6.446 0.000132 0.000169
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, SH2B3) 6.309 0.000159 0.000179
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, VAV3) 6.183 0.000189 0.000189
Maturity-onset diabetes of the young All phenotypes (HLA-A, INS) 2.959 0.0208 0.478
Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370] (HLA-A, INS) 2.959 0.0208 0.208
McCune-Albright syndrome McCune-Albright syndrome (MAS) [MIM:174800] (AVPR2, GNAS) 2.978 0.00204 0.00817
McCune-Albright syndrome (MAS) [MIM:174800] (GNAS, GNAS) 1.789 0.0242 0.0323
McCune-Albright syndrome (MAS) [MIM:174800] (GNB1, GNAS) 1.789 0.0242 0.0323
McCune-Albright syndrome (MAS) [MIM:174800] (CHRM3, GNAS) 1.472 0.0468 0.0468
Medullary thyroid carcinoma Medullary thyroid carcinoma (MTC) [MIM:155240] (RET, GDNF) 3.384 0.000523 0.00325
Medullary thyroid carcinoma (MTC) [MIM:155240] (RET, ARTN) 3.215 0.000812 0.00325
Medullary thyroid carcinoma (MTC) [MIM:155240] (RET, NRTN) 2.741 0.0027 0.00721
Medulloblastoma Medulloblastoma (MDB) [MIM:155255] (HLA-A, CTNNB1) 5.072 0.000884 0.00354
Medulloblastoma (MDB) [MIM:155255] (CTNNB1, BTRC) 4.860 0.0341 0.0683
Meesmann corneal dystrophy All phenotypes (KRT2, KRT12) 1.947 0.00118 0.00429
All phenotypes (KRT75, KRT12) 1.895 0.00141 0.00429
All phenotypes (KRT76, KRT12) 1.895 0.00141 0.00429
All phenotypes (KRT8, KRT12) 1.895 0.00141 0.00429
All phenotypes (KRT5, KRT12) 1.870 0.00153 0.00429
All phenotypes (DES, KRT12) 1.845 0.00167 0.00429
All phenotypes (KRT7, KRT12) 1.845 0.00167 0.00429
Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] (KRT2, KRT12) 1.947 0.00118 0.00167
Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] (KRT75, KRT12) 1.895 0.00141 0.00167
Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] (KRT76, KRT12) 1.895 0.00141 0.00167
Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] (KRT8, KRT12) 1.895 0.00141 0.00167
Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] (KRT5, KRT12) 1.870 0.00153 0.00167
Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] (DES, KRT12) 1.845 0.00167 0.00167
Corneal dystrophy, Meesmann 1 (MECD1) [MIM:122100] (KRT7, KRT12) 1.845 0.00167 0.00167
Megacystis-microcolon-intestinal hypoperistalsis syndrome Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5) [MIM:619431] (POTEF, ACTG2) 2.104 0.0274 0.06
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5) [MIM:619431] (POTEJ, ACTG2) 2.055 0.03 0.06
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5 (MMIHS5) [MIM:619431] (ACTG2, ACTG2) 1.503 0.00728 0.0437
Megalencephalic leukoencephalopathy Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2 (CADASIL2) [MIM:616779] (HTRA4, HTRA1) 1.896 0.0156 0.0312
Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] (HLA-A, PIK3CA) 3.984 0.00693 0.0416
Meier-Gorlin syndrome All phenotypes (MCM6, CDT1) 2.013 0.0152 0.0912
Meier-Gorlin syndrome 4 (MGORS4) [MIM:613804] (MCM6, CDT1) 2.013 0.0152 0.0152
Melanoma All phenotypes (PSMD10, CDK4) 4.189 0.00391 0.0293
All phenotypes (CDK4, CDKN1A) 3.189 0.0152 0.0542
All phenotypes (CDK4, CDKN1B) 3.064 0.0181 0.0542
All phenotypes (CDK4, CDKN2C) 3.064 0.0181 0.0542
All phenotypes (CDC7, CDK4) 2.694 0.0296 0.0664
All phenotypes (CDK4, CDKN2D) 2.604 0.0334 0.0664
All phenotypes (CDK4, CDKN1C) 2.561 0.0354 0.0664
All phenotypes (CDK4, CDKN2B) 2.401 0.0438 0.073
All phenotypes (CDK4, CDKN2A) 1.112 0.00116 0.0174
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (PSMD10, CDK4) 4.189 0.00391 0.0508
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN1A) 3.189 0.0152 0.0587
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN1B) 3.064 0.0181 0.0587
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2C) 3.064 0.0181 0.0587
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDC7, CDK4) 2.694 0.0296 0.0657
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2D) 2.604 0.0334 0.0657
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN1C) 2.561 0.0354 0.0657
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2B) 2.401 0.0438 0.0712
Melanosis, neurocutaneous Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, HLA-A) 4.104 0.00338 0.0135
Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, GRB10) 3.519 0.00761 0.0152
Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, RIN1) 2.297 0.0414 0.0488
Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, RASA1) 2.178 0.0488 0.0488
Mental retardation All phenotypes (HNRNPH2, TNPO1) 4.897 3.78e-5 0.000636
All phenotypes (CALM2, CAMK2G) 4.593 0.0414 0.225
All phenotypes (CTCF, STAG1) 4.335 0.00409 0.0329
All phenotypes (UBE2A, UBE2A) 3.663 0.00886 0.062
All phenotypes (TRIO, RAC1) 3.339 0.00031 0.00338
All phenotypes (UBE2A, RNF20) 2.788 0.0285 0.176
All phenotypes (CYBB, RAC1) 2.678 0.00796 0.0614
All phenotypes (GNB1, GPR61) 2.483 1.28e-6 7.65e-5
All phenotypes (GNAI1, GNB1) 2.409 2.07e-6 7.65e-5
All phenotypes (GNB1, GNA12) 2.322 6.13e-5 0.000873
All phenotypes (GNAT3, GNB1) 2.257 2.26e-5 0.000424
All phenotypes (GNAZ, GNB1) 2.257 2.26e-5 0.000424
All phenotypes (TRIM27, UBE2A) 2.248 0.0139 0.0917
All phenotypes (GNA11, GNB1) 2.208 7.51e-6 0.000198
All phenotypes (GNAL, GNB1) 2.196 1.81e-6 7.65e-5
All phenotypes (GNAS, GNB1) 2.172 0.00042 0.00415
All phenotypes (GNAI3, GNB1) 2.136 5.58e-7 7.65e-5
All phenotypes (ADCY5, GNB1) 2.087 0.000196 0.00227
All phenotypes (RAC1, NGEF) 2.061 0.026 0.166
All phenotypes (GNAQ, GNB1) 2.040 1.18e-6 7.65e-5
All phenotypes (GNB1, RXFP1) 2.031 2.29e-5 0.000424
All phenotypes (GNB1, PLCB3) 2.025 8.36e-5 0.0011
All phenotypes (GNB1, GNAS) 2.011 6.66e-6 0.000198
All phenotypes (GNB1, GNA13) 1.994 9.89e-5 0.00122
All phenotypes (RAC1, PKN1) 1.941 0.0325 0.194
All phenotypes (GNAS, GNB1) 1.918 0.000448 0.00415
All phenotypes (GRK2, GNB1) 1.918 0.000448 0.00415
All phenotypes (SMS, SMS) 1.902 0.0087 0.062
All phenotypes (KALRN, RAC1) 1.885 0.0361 0.209
All phenotypes (RAC1, MYO5B) 1.830 0.0399 0.224
All phenotypes (GNAO1, GNB1) 1.740 4.34e-5 0.000669
All phenotypes (VAV1, RAC1) 1.727 0.0482 0.252
All phenotypes (GNAI2, GNB1) 1.064 0.00167 0.0147
All phenotypes (GNB1, GNAI1) 0.834 0.00398 0.0329
All phenotypes (GNB1, GNAS) 0.814 0.00905 0.062
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNB1, GPR61) 2.483 1.28e-6 3.72e-5
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNAI1, GNB1) 2.409 2.07e-6 3.72e-5
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNB1, GNA12) 2.322 6.13e-5 0.00046
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNAT3, GNB1) 2.257 2.26e-5 0.000206
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNAZ, GNB1) 2.257 2.26e-5 0.000206
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNA11, GNB1) 2.208 7.51e-6 9.65e-5
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNAL, GNB1) 2.196 1.81e-6 3.72e-5
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNAS, GNB1) 2.172 0.00042 0.00224
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNAI3, GNB1) 2.136 5.58e-7 3.72e-5
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (ADCY5, GNB1) 2.087 0.000196 0.00118
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNAQ, GNB1) 2.040 1.18e-6 3.72e-5
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNB1, RXFP1) 2.031 2.29e-5 0.000206
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNB1, PLCB3) 2.025 8.36e-5 0.000579
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNB1, GNAS) 2.011 6.66e-6 9.65e-5
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNB1, GNA13) 1.994 9.89e-5 0.000636
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNAS, GNB1) 1.918 0.000448 0.00224
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GRK2, GNB1) 1.918 0.000448 0.00224
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNAO1, GNB1) 1.740 4.34e-5 0.000355
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNAI2, GNB1) 1.064 0.00167 0.00793
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNB1, GNAI1) 0.834 0.00398 0.0179
Intellectual developmental disorder, autosomal dominant 42 (MRD42) [MIM:616973] (GNB1, GNAS) 0.814 0.00905 0.0388
Intellectual developmental disorder, autosomal dominant 47 (MRD47) [MIM:617635] (CTCF, STAG1) 4.335 0.00409 0.00817
Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] (CYBB, RAC1) 2.678 0.00796 0.188
Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] (RAC1, NGEF) 2.061 0.026 0.188
Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] (RAC1, PKN1) 1.941 0.0325 0.188
Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] (KALRN, RAC1) 1.885 0.0361 0.188
Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] (RAC1, MYO5B) 1.830 0.0399 0.188
Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] (TRIO, RAC1) 1.778 0.044 0.188
Intellectual developmental disorder, autosomal dominant 48 (MRD48) [MIM:617751] (VAV1, RAC1) 1.727 0.0482 0.188
Intellectual developmental disorder, autosomal dominant 59 (MRD59) [MIM:618522] (CALM2, CAMK2G) 4.593 0.0414 0.0414
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MRD63) [MIM:618825] (TRIO, RAC1) 4.630 0.0404 0.0404
Intellectual developmental disorder, X-linked, syndromic, Bain type (MRXSB) [MIM:300986] (HNRNPH2, TNPO1) 4.897 3.78e-5 3.78e-5
Intellectual developmental disorder, X-linked, syndromic, Nascimento-type (MRXSN) [MIM:300860] (UBE2A, UBE2A) 3.663 0.00886 0.0416
Intellectual developmental disorder, X-linked, syndromic, Nascimento-type (MRXSN) [MIM:300860] (UBE2A, RNF20) 2.788 0.0285 0.0569
Intellectual developmental disorder, X-linked, syndromic, Nascimento-type (MRXSN) [MIM:300860] (TRIM27, UBE2A) 2.248 0.0139 0.0416
Intellectual developmental disorder, X-linked, syndromic, Snyder-Robinson type (MRXSSR) [MIM:309583] (SMS, SMS) 1.902 0.0087 0.0087
Metatropic dysplasia Metatropic dysplasia (MTD) [MIM:156530] (TRPV4, TRPV4) 1.290 0.000335 0.000335
Methylmalonic aciduria Methylmalonic aciduria type cblA (MMAA) [MIM:251100] (MMUT, MMAA) 0.927 0.0315 0.063
Microphthalmia All phenotypes (RARB, RXRG) 2.213 0.0149 0.0744
Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524] (RARB, RXRG) 2.213 0.0149 0.0446
Mirror movements Mirror movements 1 (MRMV1) [MIM:157600] (DCC, NTN4) 5.174 0.000767 0.00153
Mitochondrial DNA depletion syndrome All phenotypes (SUCLG1, SUCLA2) 2.510 0.0379 0.114
All phenotypes (TWNK, TWNK) 2.073 0.0231 0.114
Mitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073] (SUCLG1, SUCLA2) 2.510 0.0379 0.0379
Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245] (TWNK, TWNK) 2.073 0.0231 0.0231
Mitochondrial complex All phenotypes (UQCRC2, UQCRC2) 4.463 0.0453 0.168
All phenotypes (NDUFA4, COX6B1) 2.550 0.0291 0.168
Mitochondrial complex III deficiency, nuclear type 5 (MC3DN5) [MIM:615160] (UQCRC2, UQCRC2) 4.463 0.0453 0.0453
Mitochondrial complex IV deficiency, nuclear type 7 (MC4DN7) [MIM:619051] (NDUFA4, COX6B1) 2.550 0.0291 0.0291
Mitochondrial complex V deficiency, nuclear type 4B (MC5DN4B) [MIM:615228] (ATP5F1A, ATP5F1C) 4.816 0.0355 0.071
Mitochondrial complex deficiency All phenotypes (MT-ND6, NDUFA9) 5.812 0.0177 0.436
All phenotypes (MT-ND3, NDUFA9) 2.676 0.0304 0.436
Mitochondrial complex I deficiency, mitochondrial type 1 (MC1DM1) [MIM:500014] (MT-ND3, NDUFA9) 2.676 0.0304 0.152
Mitochondrial complex I deficiency, nuclear type 26 (MC1DN26) [MIM:618247] (MT-ND6, NDUFA9) 5.812 0.0177 0.0177
Monilethrix Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT33B) 1.902 0.000367 0.00377
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT31) 1.877 0.000408 0.00377
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT32) 1.877 0.000408 0.00377
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT34) 1.877 0.000408 0.00377
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT35) 1.804 0.000552 0.00408
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT14) 1.368 0.0421 0.153
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT15) 1.368 0.0421 0.153
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT16) 1.368 0.0421 0.153
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT36) 1.342 0.0448 0.153
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT39) 1.342 0.0448 0.153
Mullegama-Klein-Martinez syndrome Mullegama-Klein-Martinez syndrome (MKMS) [MIM:301022] (CENPU, STAG2) 4.826 0.0348 0.0672
Mullegama-Klein-Martinez syndrome (MKMS) [MIM:301022] (CTCF, STAG2) 4.585 0.0411 0.0672
Multiple neoplasia All phenotypes (RET, GDNF) 3.905 2.18e-6 2.78e-5
All phenotypes (RET, ARTN) 3.735 4.28e-6 2.78e-5
All phenotypes (RET, NRTN) 3.261 2.74e-5 0.000119
All phenotypes (MEN1, JUND) 1.282 0.00253 0.00821
All phenotypes (MEN1, KMT2A) 0.621 0.0233 0.0607
Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] (MEN1, JUND) 1.282 0.00253 0.0126
Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] (MEN1, KMT2A) 0.621 0.0233 0.0583
Multiple neoplasia 2A (MEN2A) [MIM:171400] (RET, GDNF) 4.107 8.75e-7 5.18e-6
Multiple neoplasia 2A (MEN2A) [MIM:171400] (RET, ARTN) 3.937 1.73e-6 5.18e-6
Multiple neoplasia 2A (MEN2A) [MIM:171400] (RET, NRTN) 3.463 1.13e-5 2.26e-5
Multiple self-healing squamous epithelioma Multiple self-healing squamous epithelioma (MSSE) [MIM:132800] (TGFBR1, TGFBR2) 3.184 0.0169 0.0337
Multiple sulfatase deficiency Multiple sulfatase deficiency (MSD) [MIM:272200] (SUMF2, SUMF1) 1.300 0.0422 0.127
Multiple synostoses syndrome All phenotypes (GDF5, TWSG1) 1.590 0.0075 0.105
All phenotypes (GDF5, HJV) 1.364 0.0425 0.155
All phenotypes (GDF5, RGMA) 1.316 0.0478 0.155
All phenotypes (GDF5, NOG) 1.296 0.0193 0.135
Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] (GDF5, TWSG1) 1.590 0.0075 0.075
Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] (GDF5, HJV) 1.364 0.0425 0.11
Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] (GDF5, RGMA) 1.316 0.0478 0.11
Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] (GDF5, NOG) 1.296 0.0193 0.0967
Myasthenic syndrome All phenotypes (MUSK, LRP4) 3.471 0.013 0.104
Myasthenic syndrome, congenital, 17 (CMS17) [MIM:616304] (MUSK, LRP4) 5.097 0.029 0.029
Myopathy All phenotypes (HRAS, NF1) 2.049 0.0206 0.0812
All phenotypes (CFL1, ACTA1) 1.956 0.0289 0.103
All phenotypes (MYH7, XRCC4) 1.955 0.0317 0.107
All phenotypes (HRAS, RIN1) 1.874 0.029 0.103
All phenotypes (HRAS, RASA1) 1.793 0.0339 0.11
All phenotypes (HRAS, RASGRF1) 1.755 0.0366 0.113
All phenotypes (DES, KRT20) 1.606 0.000136 0.00539
All phenotypes (KRT14, DES) 1.553 0.000192 0.00539
All phenotypes (KRT16, DES) 1.528 0.000228 0.00539
All phenotypes (KRT5, DES) 1.523 0.000601 0.0076
All phenotypes (DES, KRT17) 1.468 0.000824 0.0076
All phenotypes (DES, KRT33B) 1.442 0.000961 0.0076
All phenotypes (DES, KRT12) 1.416 0.00112 0.0076
All phenotypes (DES, KRT6C) 1.365 0.00149 0.0076
All phenotypes (DES, KRT77) 1.365 0.00149 0.0076
All phenotypes (KRT75, DES) 1.365 0.00149 0.0076
All phenotypes (DES, KRT2) 1.341 0.00171 0.0076
All phenotypes (DES, KRT76) 1.341 0.00171 0.0076
All phenotypes (KRT3, DES) 1.341 0.00171 0.0076
All phenotypes (KRT37, DES) 1.341 0.00171 0.0076
All phenotypes (KRT6A, DES) 1.341 0.00171 0.0076
All phenotypes (KRT6B, DES) 1.341 0.00171 0.0076
All phenotypes (KRT1, DES) 1.238 0.00589 0.0246
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, NF1) 2.049 0.0206 0.183
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RIN1) 1.874 0.029 0.183
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RASA1) 1.793 0.0339 0.183
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RASGRF1) 1.755 0.0366 0.183
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT20) 1.606 0.000136 0.00159
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT14, DES) 1.553 0.000192 0.00159
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT16, DES) 1.528 0.000228 0.00159
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT5, DES) 1.523 0.000601 0.00225
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT17) 1.468 0.000824 0.00225
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT33B) 1.442 0.000961 0.00225
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT12) 1.416 0.00112 0.00225
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT6C) 1.365 0.00149 0.00225
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT77) 1.365 0.00149 0.00225
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT75, DES) 1.365 0.00149 0.00225
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT2) 1.341 0.00171 0.00225
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT76) 1.341 0.00171 0.00225
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT3, DES) 1.341 0.00171 0.00225
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT37, DES) 1.341 0.00171 0.00225
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT6A, DES) 1.341 0.00171 0.00225
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT6B, DES) 1.341 0.00171 0.00225
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT1, DES) 1.238 0.00589 0.00727
Myotonia congenita Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] (CLCN1, CLCN1) 1.434 0.00903 0.00903
N-terminal acetyltransferase deficiency N-terminal acetyltransferase deficiency (NATD) [MIM:300855] (NAA10, NAA15) 1.515 0.0429 0.0858
Nabais Sa-de Vries syndrome All phenotypes (SPOP, PDX1) 3.008 0.00416 0.0291
All phenotypes (SPOP, TP53BP1) 2.795 0.0304 0.0719
All phenotypes (SPOP, BRD3) 2.713 0.0338 0.0719
All phenotypes (SPOP, MACROH2A1) 2.561 0.0411 0.0719
Nabais Sa-de Vries syndrome 2 (NSDVS2) [MIM:618829] (SPOP, PDX1) 3.593 0.000915 0.00641
Nemaline myopathy All phenotypes (ACTB, ACTA1) 0.992 7.17e-6 0.000129
All phenotypes (ACTA1, ACTA1) 0.516 4.37e-5 0.000393
Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] (ACTB, ACTA1) 0.992 7.17e-6 0.0001
Congenital myopathy 2A, typical, autosomal dominant (CMYP2A) [MIM:161800] (ACTA1, ACTA1) 0.516 4.37e-5 0.000306
Nephrogenic syndrome Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539] (GNAI3, AVPR2) 3.392 0.00907 0.0194
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539] (AVPR2, GNAI1) 3.345 0.00969 0.0194
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539] (AVPR2, ARRB1) 2.907 0.0178 0.0237
Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539] (AVPR2, GNAS) 2.417 0.0351 0.0351
Nephrotic syndrome All phenotypes (NUP155, NUP93) 2.758 0.0272 0.0901
All phenotypes (DKC1, NOP10) 2.236 0.0451 0.0901
Nephrotic syndrome 12 (NPHS12) [MIM:616892] (NUP155, NUP93) 2.758 0.0272 0.0272
Neu-Laxova syndrome All phenotypes (PHGDH, PHGDH) 2.677 0.0244 0.0489
Neu-Laxova syndrome 1 (NLS1) [MIM:256520] (PHGDH, PHGDH) 2.677 0.0244 0.0244
Neuroblastoma Neuroblastoma 3 (NBLST3) [MIM:613014] (HLA-A, ALK) 3.209 0.0193 0.029
Neuroblastoma 3 (NBLST3) [MIM:613014] (HLA-B, ALK) 3.209 0.0193 0.029
Neurodevelopmental, jaw, eye, and digital syndrome Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) [MIM:618914] (CTNNB1, FBXW11) 3.891 5.0e-6 1.0e-5
Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) [MIM:618914] (NFKBIA, FBXW11) 3.614 0.00135 0.00135
Neurodevelopmental disorder with brain, liver, and lung abnormalities All phenotypes (ARHGDIB, RAC3) 1.914 0.0268 0.153
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577] (ARHGDIB, RAC3) 1.914 0.0268 0.159
Neurodevelopmental disorder with hypotonia, seizures, and absent language All phenotypes (GRIN1, GRIN2C) 1.790 1.06e-7 3.19e-7
All phenotypes (GRIN1, GRIN2A) 1.591 1.09e-8 6.54e-8
All phenotypes (GRIN2D, GRIN1) 1.532 4.63e-7 9.26e-7
All phenotypes (GRIN1, GRIN2B) 1.483 2.74e-6 4.12e-6
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] (GRIN1, GRIN2C) 1.790 1.06e-7 2.66e-7
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] (GRIN1, GRIN2A) 1.591 1.09e-8 5.45e-8
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] (GRIN2D, GRIN1) 1.532 4.63e-7 7.71e-7
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant (NDHMSD) [MIM:614254] (GRIN1, GRIN2B) 1.483 2.74e-6 3.43e-6
Neurofibromatosis All phenotypes (HRAS, NF1) 2.961 2.51e-6 5.01e-6
All phenotypes (KRAS, NF1) 2.891 1.03e-6 4.13e-6
Neurofibromatosis 1 (NF1) [MIM:162200] (HRAS, NF1) 2.980 2.25e-6 3.38e-6
Neurofibromatosis 1 (NF1) [MIM:162200] (KRAS, NF1) 2.909 9.15e-7 2.75e-6
Neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] (NF1, SPRED1) 6.484 0.000198 0.000198
Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] (HRAS, NF1) 5.773 2.26e-7 6.28e-7
Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] (KRAS, NF1) 5.551 4.18e-7 6.28e-7
Neuropathy All phenotypes (ELP1, ELP2) 5.349 0.0244 0.111
All phenotypes (H2AC17, VRK1) 4.722 0.0373 0.133
All phenotypes (H2AX, VRK1) 4.722 0.0373 0.133
All phenotypes (RHOA, TRPV4) 4.491 0.00198 0.0211
All phenotypes (H2BC10, VRK1) 4.307 0.0495 0.158
All phenotypes (HSPB6, HSPB8) 2.523 0.00167 0.0211
All phenotypes (HSPB7, HSPB8) 2.471 0.000191 0.00612
All phenotypes (CRYAB, HSPB8) 2.069 0.00561 0.0428
All phenotypes (HSPB2, HSPB8) 1.550 0.0218 0.111
All phenotypes (CRYAB, HSPB1) 1.313 0.00669 0.0428
Neuronopathy, distal hereditary motor, autosomal dominant 2 (HMND2) [MIM:158590] (HSPB6, HSPB8) 2.523 0.00167 0.00417
Neuronopathy, distal hereditary motor, autosomal dominant 2 (HMND2) [MIM:158590] (HSPB7, HSPB8) 2.471 0.000191 0.000956
Neuronopathy, distal hereditary motor, autosomal dominant 2 (HMND2) [MIM:158590] (CRYAB, HSPB8) 2.069 0.00561 0.00934
Neuronopathy, distal hereditary motor, autosomal dominant 2 (HMND2) [MIM:158590] (HSPB2, HSPB8) 1.550 0.0218 0.0272
Neuronopathy, distal hereditary motor, autosomal dominant 3 (HMND3) [MIM:608634] (CRYAB, HSPB1) 1.313 0.00669 0.0602
Neuronopathy, distal hereditary motor, autosomal dominant 8 (HMND8) [MIM:600175] (RHOA, TRPV4) 4.491 0.00198 0.00198
Neuronopathy, distal hereditary motor, autosomal recessive 10 (HMNR10) [MIM:620542] (H2AC17, VRK1) 4.722 0.0373 0.0825
Neuronopathy, distal hereditary motor, autosomal recessive 10 (HMNR10) [MIM:620542] (H2AX, VRK1) 4.722 0.0373 0.0825
Neuronopathy, distal hereditary motor, autosomal recessive 10 (HMNR10) [MIM:620542] (H2BC10, VRK1) 4.307 0.0495 0.0825
Neuropathy, hereditary sensory and autonomic, 3 (HSAN3) [MIM:223900] (ELP1, ELP2) 5.349 0.0244 0.0244
Neutropenia All phenotypes (CLPB, CLPB) 1.318 0.00417 0.0458
All phenotypes (ELANE, GZMB) 0.443 0.0272 0.15
Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] (ELANE, GZMB) 0.443 0.0272 0.0816
Neutropenia, severe congenital 9, autosomal dominant (SCN9) [MIM:619813] (CLPB, CLPB) 1.318 0.00417 0.00417
Neutrophil immunodeficiency syndrome All phenotypes (IKZF1, ZNF580) 2.536 0.0413 0.165
Immunodeficiency, common variable, 13 (CVID13) [MIM:616873] (IKZF1, ZNF580) 2.536 0.0413 0.0827
Noonan-like syndrome Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] (CBL, UBE2E2) 3.710 0.00832 0.0129
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] (CBL, UBE2E3) 3.710 0.00832 0.0129
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] (CBL, UBE2D2) 3.550 0.0103 0.0129
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] (UBC, CBL) 3.550 0.0103 0.0129
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] (CBL, UBE2L3) 3.274 0.0149 0.0149
Noonan syndrome All phenotypes (RAF1, SFN) 3.898 1.13e-7 1.06e-5
All phenotypes (RAF1, YWHAZ) 3.506 7.16e-7 3.33e-5
All phenotypes (KRAS, TRB) 3.240 0.0176 0.132
All phenotypes (AFDN, RIT1) 2.608 0.00819 0.109
All phenotypes (KRAS, PLAAT3) 2.425 0.000882 0.0205
All phenotypes (BRAF, YWHAZ) 2.216 0.0148 0.132
All phenotypes (CD28, PTPN11) 2.198 0.0275 0.149
All phenotypes (KRAS, GRB7) 2.147 0.0246 0.143
All phenotypes (PAK1, RIT1) 2.101 0.022 0.138
All phenotypes (KRAS, ARAF) 2.060 0.0288 0.149
All phenotypes (MET, PTPN11) 1.976 0.0184 0.132
All phenotypes (KRAS, RALGDS) 1.918 0.0137 0.132
All phenotypes (KRAS, RGL1) 1.862 0.0158 0.132
All phenotypes (KRAS, BRAF) 1.755 0.05 0.211
All phenotypes (PPP1R11, PPP1CB) 1.683 0.0484 0.211
All phenotypes (GRB2, PTPN11) 1.613 0.000309 0.00957
All phenotypes (ERBB2, PTPN11) 1.510 0.0174 0.132
All phenotypes (KRAS, NF1) 1.392 0.048 0.211
All phenotypes (KRAS, SOS2) 1.392 0.0222 0.138
All phenotypes (PTPN6, PTPN11) 1.167 0.00127 0.0236
All phenotypes (RRAS2, RGL3) 1.159 0.0402 0.197
All phenotypes (PTPN11, PTPN11) 0.935 0.00638 0.0989
Noonan syndrome 12 (NS12) [MIM:618624] (RRAS2, RGL3) 1.159 0.0402 0.0402
Noonan syndrome 1 (NS1) [MIM:163950] (CD28, PTPN11) 2.198 0.0275 0.0504
Noonan syndrome 1 (NS1) [MIM:163950] (MET, PTPN11) 1.976 0.0184 0.0405
Noonan syndrome 1 (NS1) [MIM:163950] (GRB2, PTPN11) 1.613 0.000309 0.0034
Noonan syndrome 1 (NS1) [MIM:163950] (ERBB2, PTPN11) 1.510 0.0174 0.0405
Noonan syndrome 1 (NS1) [MIM:163950] (PTPN6, PTPN11) 1.167 0.00127 0.00697
Noonan syndrome 1 (NS1) [MIM:163950] (PTPN11, PTPN11) 0.935 0.00638 0.0234
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, TRB) 3.240 0.0176 0.0912
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, PLAAT3) 2.425 0.000882 0.0229
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, GRB7) 2.147 0.0246 0.0912
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, ARAF) 2.060 0.0288 0.0937
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, RALGDS) 1.918 0.0137 0.0912
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, RGL1) 1.862 0.0158 0.0912
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, BRAF) 1.755 0.05 0.13
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, NF1) 1.392 0.048 0.13
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, SOS2) 1.392 0.0222 0.0912
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, SOS1) 1.325 0.00352 0.0457
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, SFN) 3.898 1.13e-7 1.13e-6
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAZ) 3.506 7.16e-7 3.58e-6
Noonan syndrome 7 (NS7) [MIM:613706] (BRAF, YWHAZ) 2.216 0.0148 0.207
Noonan syndrome 8 (NS8) [MIM:615355] (AFDN, RIT1) 2.608 0.00819 0.0409
Noonan syndrome 8 (NS8) [MIM:615355] (PAK1, RIT1) 2.101 0.022 0.0549
Noonan syndrome-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506] (PPP1R11, PPP1CB) 1.683 0.0484 0.341
Obesity All phenotypes (NTRK2, SH2B1) 5.066 0.0299 0.209
All phenotypes (FBXW7, DISC1) 2.810 0.000141 0.00177
All phenotypes (MYC, FBXW7) 2.665 1.58e-5 0.000395
All phenotypes (MORC1, MORC2) 1.493 0.0402 0.209
All phenotypes (MORC2, MORC2) 1.477 0.0418 0.209
Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] (FBXW7, DISC1) 2.810 0.000141 0.000141
Developmental delay, hypotonia, and impaired language (DEDHIL) [MIM:620012] (MYC, FBXW7) 2.665 1.58e-5 3.16e-5
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) [MIM:619090] (MORC1, MORC2) 1.493 0.0402 0.0418
Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy (DIGFAN) [MIM:619090] (MORC2, MORC2) 1.477 0.0418 0.0418
Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886] (NTRK2, SH2B1) 5.066 0.0299 0.0299
Oculodentodigital dysplasia Oculodentodigital dysplasia (ODDD) [MIM:164200] (GJA1, GJA1) 0.958 0.000356 0.000356
Oculoectodermal syndrome Oculoectodermal syndrome (OES) [MIM:600268] (HLA-Cw, KRAS) 3.240 0.0156 0.102
Oculoectodermal syndrome (OES) [MIM:600268] (KRAS, HLA-C) 3.240 0.0156 0.102
Orofacial cleft All phenotypes (KDM1A, INSM1) 4.392 0.000108 0.000358
All phenotypes (KDM1A, SNAI1) 4.307 0.000129 0.000358
All phenotypes (KDM1A, H3-4) 4.227 0.000152 0.000358
All phenotypes (KDM1A, ) 4.010 0.000239 0.000358
All phenotypes (KDM1A, H3-5) 4.010 0.000239 0.000358
All phenotypes (KDM1A, H3C12) 4.010 0.000239 0.000358
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] (KDM1A, INSM1) 4.392 0.000108 0.000239
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] (KDM1A, SNAI1) 4.307 0.000129 0.000239
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] (KDM1A, H3-4) 4.227 0.000152 0.000239
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] (KDM1A, ) 4.010 0.000239 0.000239
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] (KDM1A, H3-5) 4.010 0.000239 0.000239
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] (KDM1A, H3C12) 4.010 0.000239 0.000239
Osteogenesis imperfecta All phenotypes (COL3A1, SPARC) 3.777 0.00532 0.0319
All phenotypes (COL1A1, GP6) 2.862 0.00201 0.0241
All phenotypes (COL1A1, COL9A3) 1.199 0.0255 0.0829
All phenotypes (COL1A1, COL9A1) 1.175 0.0276 0.0829
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 (OIEDS1) [MIM:619115] (COL1A1, FN1) 4.524 0.0435 0.0435
Osteogenesis imperfecta 17 (OI17) [MIM:616507] (COL3A1, SPARC) 3.777 0.00532 0.00532
Osteogenesis imperfecta 1 (OI1) [MIM:166200] (COL1A1, FN1) 3.787 0.000769 0.00462
Osteogenesis imperfecta 2 (OI2) [MIM:166210] (COL1A1, GP6) 3.386 0.000473 0.00331
Osteoporosis-pseudoglioma syndrome Osteoporosis-pseudoglioma syndrome (OPPG) [MIM:259770] (LRP5, SOST) 2.057 0.0339 0.0339
Ovarian cancer Ovarian cancer (OC) [MIM:167000] (HLA-A, PIK3CA) 6.891 0.00843 0.0379
Ovarian cancer (OC) [MIM:167000] (HLA-A, CTNNB1) 5.072 0.000884 0.00796
Ovarian cancer (OC) [MIM:167000] (CTNNB1, BTRC) 4.860 0.0341 0.0768
Ovarian cancer (OC) [MIM:167000] (BRCA1, BRIP1) 3.130 0.0165 0.0495
Ovarian dysgenesis Ovarian dysgenesis 8 (ODG8) [MIM:618187] (NCOA2, ESR2) 4.923 0.033 0.0721
Ovarian dysgenesis 8 (ODG8) [MIM:618187] (ESR2, NCOA5) 4.700 0.0385 0.0721
Ovarian dysgenesis 8 (ODG8) [MIM:618187] (ESR2, NCOA3) 4.601 0.0412 0.0721
Ovarian dysgenesis 8 (ODG8) [MIM:618187] (NRIP1, ESR2) 4.601 0.0412 0.0721
PAPA syndrome PAPA syndrome (PAPAS) [MIM:604416] (PSTPIP1, PTPN22) 3.779 0.00685 0.00685
PHOAR2-enteropathy syndrome PHOAR2-enteropathy syndrome (PHOAR2E) [MIM:614441] (HLA-A, SLCO2A1) 3.629 0.00161 0.00161
Pachyonychia congenita All phenotypes (KRT6A, LMNA) 2.032 1.89e-5 0.000954
All phenotypes (KRT34, KRT6A) 1.729 0.000113 0.000954
All phenotypes (KRT6A, KRT31) 1.729 0.000113 0.000954
All phenotypes (KRT38, KRT6A) 1.704 0.000131 0.000954
All phenotypes (KRT6A, DES) 1.704 0.000131 0.000954
All phenotypes (KRT6A, KRT35) 1.704 0.000131 0.000954
All phenotypes (KRT6A, KRT40) 1.680 0.000151 0.000954
All phenotypes (KRT6A, KRT17) 1.668 9.42e-5 0.000954
All phenotypes (KRT14, KRT6A) 1.662 0.000648 0.00336
All phenotypes (KRT6A, KRT20) 1.662 0.000648 0.00336
All phenotypes (KRT6A, KRT16) 1.598 0.000146 0.000954
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, LMNA) 2.032 1.89e-5 0.000227
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT34, KRT6A) 1.729 0.000113 0.000258
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT31) 1.729 0.000113 0.000258
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT38, KRT6A) 1.704 0.000131 0.000258
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, DES) 1.704 0.000131 0.000258
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT35) 1.704 0.000131 0.000258
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT40) 1.680 0.000151 0.000258
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT14, KRT6A) 1.662 0.000648 0.000777
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT17) 1.662 0.000648 0.000777
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT20) 1.662 0.000648 0.000777
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT16) 1.610 0.000842 0.000919
Pancreatitis Pancreatitis, hereditary (PCTT) [MIM:167800] (PRSS1, TMPRSS15) 1.390 0.00313 0.00938
Parkinson disease All phenotypes (LRRK2, CSNK1G3) 3.358 0.00301 0.0994
All phenotypes (YWHAG, LRRK2) 3.250 0.0186 0.15
All phenotypes (YWHAE, LRRK2) 3.188 0.0202 0.15
All phenotypes (YWHAH, LRRK2) 3.188 0.0202 0.15
All phenotypes (YWHAQ, LRRK2) 3.188 0.0202 0.15
All phenotypes (YWHAZ, LRRK2) 3.188 0.0202 0.15
All phenotypes (YWHAB, LRRK2) 3.129 0.0217 0.15
All phenotypes (SNCA, PPIA) 2.959 0.0227 0.15
All phenotypes (MYL9, LRRK2) 2.551 0.014 0.15
All phenotypes (PLA2G6, PLA2G6) 2.364 0.0377 0.207
All phenotypes (LRRK1, LRRK2) 2.001 0.0377 0.207
All phenotypes (LRRK2, LRRK2) 1.896 0.000127 0.0084
Parkinson disease 14 (PARK14) [MIM:612953] (PLA2G6, PLA2G6) 2.364 0.0377 0.0377
Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601] (SNCA, PPIA) 2.959 0.0227 0.0682
Parkinson disease 8 (PARK8) [MIM:607060] (LRRK2, CSNK1G3) 3.358 0.00301 0.0256
Parkinson disease 8 (PARK8) [MIM:607060] (YWHAG, LRRK2) 3.250 0.0186 0.0411
Parkinson disease 8 (PARK8) [MIM:607060] (YWHAE, LRRK2) 3.188 0.0202 0.0411
Parkinson disease 8 (PARK8) [MIM:607060] (YWHAH, LRRK2) 3.188 0.0202 0.0411
Parkinson disease 8 (PARK8) [MIM:607060] (YWHAQ, LRRK2) 3.188 0.0202 0.0411
Parkinson disease 8 (PARK8) [MIM:607060] (YWHAZ, LRRK2) 3.188 0.0202 0.0411
Parkinson disease 8 (PARK8) [MIM:607060] (YWHAB, LRRK2) 3.129 0.0217 0.0411
Parkinson disease 8 (PARK8) [MIM:607060] (MYL9, LRRK2) 2.551 0.014 0.0411
Parkinson disease 8 (PARK8) [MIM:607060] (LRRK1, LRRK2) 2.001 0.0377 0.0641
Parkinson disease 8 (PARK8) [MIM:607060] (LRRK2, LRRK2) 1.896 0.000127 0.00216
Patterned dystrophy of retinal pigment epithelium Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150] (PRPH2, ROM1) 1.865 0.0422 0.0422
Periventricular heterotopia All phenotypes (UBA52, NEDD4L) 2.711 0.0315 0.315
Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201] (UBA52, NEDD4L) 2.711 0.0315 0.0946
Peroxisome biogenesis disorder All phenotypes (PEX1, PEX6) 1.389 0.0107 0.0428
Peroxisome biogenesis disorder 1A (PBD1A) [MIM:214100] (PEX1, PEX6) 2.208 0.0179 0.0179
Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862] (PEX1, PEX6) 2.403 0.0358 0.0358
Perry syndrome Perry syndrome (PERRYS) [MIM:168605] (DCTN1, MAPRE3) 2.470 0.047 0.113
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] (FGF19, FGFR1) 4.440 0.0461 0.198
Pfeiffer syndrome (PS) [MIM:101600] (FGF7, FGFR2) 1.535 0.0439 0.198
Pheochromocytoma Pheochromocytoma (PCC) [MIM:171300] (RET, MAPK1) 4.890 0.0337 0.484
Pheochromocytoma (PCC) [MIM:171300] (RET, MAPK3) 4.756 0.037 0.484
Piebaldism Piebald trait (PBT) [MIM:172800] (LCK, KIT) 2.802 0.0317 0.19
Pilomatrixoma Pilomatrixoma (PTR) [MIM:132600] (CTNNB1, BTRC) 5.182 8.11e-8 1.22e-7
Pilomatrixoma (PTR) [MIM:132600] (CTNNB1, FBXW11) 5.097 7.07e-5 7.07e-5
Pilomatrixoma (PTR) [MIM:132600] (HLA-A, CTNNB1) 5.072 6.11e-13 1.83e-12
Pitt-Hopkins syndrome Pitt-Hopkins syndrome (PTHS) [MIM:610954] (TCF4, TCF4) 1.447 0.00013 0.0039
Pitt-Hopkins syndrome (PTHS) [MIM:610954] (TCF4, ID2) 1.276 0.0209 0.209
Pitt-Hopkins syndrome (PTHS) [MIM:610954] (TCF4, ID3) 1.276 0.0209 0.209
Pitt-Hopkins syndrome (PTHS) [MIM:610954] (TCF4, ID1) 1.165 0.0302 0.226
Pontocerebellar hypoplasia All phenotypes (EXOSC9, EXOSC3) 2.692 0.00694 0.0832
All phenotypes (TSEN15, TSEN34) 1.596 0.0362 0.164
Pontocerebellar hypoplasia 2F (PCH2F) [MIM:617026] (TSEN15, TSEN34) 1.596 0.0362 0.0725
Progressive external ophthalmoplegia All phenotypes (TWNK, TWNK) 1.537 0.00034 0.00102
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286] (TWNK, TWNK) 1.537 0.00034 0.00034
Prostate cancer Prostate cancer (PC) [MIM:176807] (RNF8, CHEK2) 2.784 5.32e-5 0.000213
Prostate cancer (PC) [MIM:176807] (NBN, CHEK2) 2.556 0.000684 0.00137
Pseudohypoaldosteronism All phenotypes (KLHL2, WNK4) 5.256 1.79e-5 0.000108
All phenotypes (COPS2, CUL3) 3.753 0.0055 0.0132
All phenotypes (WNK4, KLHL3) 3.001 2.9e-7 3.48e-6
All phenotypes (WNK3, KLHL3) 2.142 0.000848 0.00339
All phenotypes (KEAP1, KLHL3) 1.928 0.002 0.006
Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] (WNK4, KLHL3) 5.408 1.31e-5 1.79e-5
Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] (KLHL2, WNK4) 5.256 1.79e-5 1.79e-5
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (WNK4, KLHL3) 2.327 0.000396 0.00238
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (WNK3, KLHL3) 2.142 0.000848 0.00254
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (KEAP1, KLHL3) 1.928 0.002 0.004
Pseudohypoaldosteronism 2E (PHA2E) [MIM:614496] (COPS2, CUL3) 3.753 0.0055 0.0165
Pseudohypoparathyroidism All phenotypes (FZD7, GNAS) 2.578 0.013 0.327
All phenotypes (GNAS, FZD1) 2.452 0.0164 0.327
All phenotypes (OXTR, GNAS) 1.867 0.0465 0.327
All phenotypes (CASR, GNAS) 1.752 0.0275 0.327
All phenotypes (GNAS, NMUR1) 1.545 0.0434 0.327
Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] (GNAS, ADCY2) 2.452 0.0472 0.331
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (FZD7, GNAS) 5.163 0.000779 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, FZD1) 5.037 0.000928 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, C3AR1) 4.452 0.00209 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (OXTR, GNAS) 4.452 0.00209 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, ADGRG4) 4.230 0.00284 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GHRHR) 4.230 0.00284 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, HRH4) 4.230 0.00284 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, CRHR2) 4.163 0.00312 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (TRHR, GNAS) 4.163 0.00312 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (ADRA1A, GNAS) 4.098 0.00341 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GPR61) 4.098 0.00341 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (PTH2R, GNAS) 4.098 0.00341 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (EDNRA, GNAS) 4.037 0.00371 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GALR2, GNAS) 4.037 0.00371 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (PTGER2, GNAS) 4.037 0.00371 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (CRHR1, GNAS) 3.978 0.00403 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, OR51E2) 3.978 0.00403 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (ADGRE5, GNAS) 3.922 0.00435 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (ADORA2A, GNAS) 3.922 0.00435 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (CASR, GNAS) 3.922 0.00435 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (PTGFR, GNAS) 3.922 0.00435 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GPR65) 3.867 0.0047 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GPR68) 3.867 0.0047 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (PRLHR, GNAS) 3.867 0.0047 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (CNR1, GNAS) 3.815 0.00505 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, ADGRD1) 3.815 0.00505 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GPR161) 3.815 0.00505 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, SUCNR1) 3.815 0.00505 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, ADGRF1) 3.764 0.00542 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, CALCRL) 3.764 0.00542 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GHRHR) 3.764 0.00542 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (HRH2, GNAS) 3.764 0.00542 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (P2RY1, GNAS) 3.764 0.00542 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, NMUR1) 3.715 0.0058 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GPR139) 3.622 0.0066 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GPR12, GNAS) 3.622 0.0066 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (NMBR, GNAS) 3.622 0.0066 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (ADORA2B, GNAS) 3.578 0.00702 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GIPR, GNAS) 3.578 0.00702 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GPER1) 3.578 0.00702 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GPR101) 3.578 0.00702 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (MC3R, GNAS) 3.578 0.00702 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (TSHR, GNAS) 3.578 0.00702 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (EDNRB, GNAS) 3.535 0.00745 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GPR6, GNAS) 3.535 0.00745 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (HTR7, GNAS) 3.535 0.00745 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (TACR1, GNAS) 3.535 0.00745 0.0135
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, HTR4) 3.493 0.00789 0.0136
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, RXFP3) 3.493 0.00789 0.0136
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, TAS2R14) 3.452 0.00835 0.0136
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (SCTR, GNAS) 3.452 0.00835 0.0136
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (VIPR1, GNAS) 3.452 0.00835 0.0136
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (PTGIR, GNAS) 3.413 0.00882 0.0139
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (TAS2R46, GNAS) 3.413 0.00882 0.0139
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (DRD5, GNAS) 3.374 0.0093 0.0144
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GRPR, GNAS) 3.337 0.0098 0.0148
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GPR174) 3.300 0.0103 0.0148
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, MC1R) 3.300 0.0103 0.0148
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (CALCR, GNAS) 3.264 0.0108 0.0148
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GPR52) 3.264 0.0108 0.0148
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, NMUR2) 3.264 0.0108 0.0148
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (MC5R, GNAS) 3.264 0.0108 0.0148
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GPR21) 3.230 0.0114 0.0151
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GPR3, GNAS) 3.230 0.0114 0.0151
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, CYSLTR2) 3.196 0.0119 0.0156
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (HTR6, GNAS) 3.163 0.0125 0.0158
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (MTNR1B, GNAS) 3.163 0.0125 0.0158
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (ADCYAP1R1, GNAS) 3.098 0.0136 0.0168
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, PTH1R) 3.098 0.0136 0.0168
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, FFAR4) 3.037 0.0148 0.0175
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GPBAR1) 3.037 0.0148 0.0175
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (PTGER4, GNAS) 3.037 0.0148 0.0175
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (CCKAR, GNAS) 3.007 0.0155 0.0178
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GPR119) 3.007 0.0155 0.0178
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (AVPR2, GNAS) 2.978 0.0161 0.0183
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GCGR, GNAS) 2.950 0.0168 0.0187
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (MC4R, GNAS) 2.922 0.0174 0.0192
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, TAAR1) 2.894 0.0181 0.0197
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (DRD1, GNAS) 2.691 0.024 0.0258
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (ADRB2, GNAS) 2.668 0.0248 0.0263
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GLP1R, GNAS) 2.556 0.0289 0.0303
Pyridoxine-5'-phosphate oxidase deficiency Pyridoxine-5'-phosphate oxidase deficiency (PNPOD) [MIM:610090] (PNPO, PNPO) 1.526 0.0419 0.0419
Pyropoikilocytosis Hereditary pyropoikilocytosis (HPP) [MIM:266140] (SPTA1, SPTB) 5.465 0.0226 0.0453
Hereditary pyropoikilocytosis (HPP) [MIM:266140] (SPTA1, SPTBN1) 4.465 0.0453 0.0453
Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome (RMS) [MIM:262190] (INSR, IRS1) 2.471 0.0492 0.225
Radioulnar synostosis with amegakaryocytic thrombocytopenia Thrombocytopenia 6 (THC6) [MIM:616937] (SRC, PTPN23) 6.235 0.0133 0.0465
Thrombocytopenia 6 (THC6) [MIM:616937] (SRC, PTPN1) 6.013 0.0155 0.0465
Refsum disease All phenotypes (MEFV, SFN) 6.412 0.0117 0.0822
All phenotypes (RHOA, TRPV4) 4.268 5.21e-8 2.19e-6
All phenotypes (LYN, SRC) 3.281 0.0106 0.0822
All phenotypes (VWF, GP1BA) 2.929 0.00227 0.0476
All phenotypes (CRYAB, HSPB1) 1.898 0.00879 0.0822
All phenotypes (MFN2, MFN1) 1.508 0.00815 0.0822
All phenotypes (MFN2, MFN2) 1.365 0.0138 0.083
Autoinflammatory disease, systemic, with vasculitis (SAIDV) [MIM:620376] (LYN, SRC) 3.281 0.0106 0.0212
Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] (MFN2, MFN1) 1.719 0.00325 0.0057
Charcot-Marie-Tooth disease, axonal, 2A2A (CMT2A2A) [MIM:609260] (MFN2, MFN2) 1.576 0.0057 0.0057
Charcot-Marie-Tooth disease, axonal, 2C (CMT2C) [MIM:606071] (RHOA, TRPV4) 4.268 5.21e-8 5.21e-8
Charcot-Marie-Tooth disease, axonal, 2F (CMT2F) [MIM:606595] (CRYAB, HSPB1) 1.898 0.00879 0.0615
Pyrin-associated autoinflammatory disease (PAAND) [MIM:608068] (MEFV, SFN) 6.412 0.0117 0.0117
Von Willebrand disease, platelet-type (VWDP) [MIM:177820] (VWF, GP1BA) 2.929 0.00227 0.00453
Renal cell carcinoma All phenotypes (MET, SH2B1) 4.970 3.74e-7 1.87e-6
All phenotypes (SH2B2, MET) 4.970 3.74e-7 1.87e-6
All phenotypes (MET, SH2B3) 4.844 5.74e-7 2.15e-6
All phenotypes (MET, NTRK3) 3.785 0.000161 0.000483
All phenotypes (MET, SYK) 3.407 0.000437 0.000945
All phenotypes (MET, TXK) 2.800 1.23e-7 1.85e-6
All phenotypes (MET, TEC) 2.444 0.000441 0.000945
All phenotypes (MET, BTK) 2.370 0.000581 0.00109
All phenotypes (MET, ITK) 2.321 0.00225 0.00375
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SH2B1) 4.970 3.74e-7 1.75e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (SH2B2, MET) 4.970 3.74e-7 1.75e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SH2B3) 4.844 5.74e-7 2.01e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, NTRK3) 3.785 0.000161 0.000451
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SYK) 3.407 0.000437 0.000882
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, TXK) 2.800 1.23e-7 1.73e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, TEC) 2.444 0.000441 0.000882
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, BTK) 2.370 0.000581 0.00102
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, ITK) 2.321 0.00225 0.0035
Renal glucosuria Renal glucosuria (GLYS) [MIM:233100] (SLC5A2, PDZK1IP1) 5.144 0.0283 0.0283
Retinitis pigmentosa All phenotypes (ZBTB48, ZNF408) 6.242 0.0132 0.0881
All phenotypes (ZNF408, ZNF331) 6.242 0.0132 0.0881
All phenotypes (ZNF473, ZNF408) 5.242 0.0264 0.132
All phenotypes (ZNF764, ZNF408) 4.505 0.0441 0.189
All phenotypes (PRPF3, PRPF8) 4.291 0.00261 0.0318
All phenotypes (STAT3, STAT2) 2.380 0.0018 0.0318
All phenotypes (SNRNP200, PRPF8) 1.950 0.00318 0.0318
All phenotypes (PRPH2, ROM1) 1.807 0.00127 0.0318
All phenotypes (RP2, ARL3) 1.701 0.026 0.132
All phenotypes (STAT3, STAT3) 1.483 0.0473 0.189
Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] (STAT3, STAT2) 2.380 0.0018 0.018
Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections (HIES1) [MIM:147060] (STAT3, STAT3) 1.483 0.0473 0.237
Retinitis pigmentosa 13 (RP13) [MIM:600059] (SNRNP200, PRPF8) 2.843 0.00131 0.00131
Retinitis pigmentosa 18 (RP18) [MIM:601414] (PRPF3, PRPF8) 4.291 0.00261 0.00261
Retinitis pigmentosa 2 (RP2) [MIM:312600] (RP2, ARL3) 1.701 0.026 0.026
Retinitis pigmentosa 72 (RP72) [MIM:616469] (ZBTB48, ZNF408) 6.242 0.0132 0.0463
Retinitis pigmentosa 72 (RP72) [MIM:616469] (ZNF408, ZNF331) 6.242 0.0132 0.0463
Retinitis pigmentosa 72 (RP72) [MIM:616469] (ZNF473, ZNF408) 5.242 0.0264 0.0617
Retinitis pigmentosa 72 (RP72) [MIM:616469] (ZNF764, ZNF408) 4.505 0.0441 0.0771
Retinitis pigmentosa 7 (RP7) [MIM:608133] (PRPH2, ROM1) 1.807 0.00127 0.00127
Richieri-Costa-Pereira syndrome Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305] (EIF4A3, UPF3B) 4.911 0.0332 0.0665
SHORT syndrome All phenotypes (PDGFRA, PIK3R1) 4.841 0.0346 0.103
All phenotypes (PIK3R1, GRB10) 4.426 0.046 0.103
All phenotypes (PIK3R1, SHC1) 4.339 0.0488 0.103
All phenotypes (PLCG1, PIK3R1) 4.339 0.0488 0.103
All phenotypes (TUBB, TUBB4B) 2.888 0.0183 0.103
All phenotypes (TUBB, TUBB2A) 2.794 0.0208 0.103
SHORT syndrome (SHORTS) [MIM:269880] (PDGFRA, PIK3R1) 4.841 0.0346 0.0866
SHORT syndrome (SHORTS) [MIM:269880] (PIK3R1, GRB10) 4.426 0.046 0.0866
SHORT syndrome (SHORTS) [MIM:269880] (PIK3R1, SHC1) 4.339 0.0488 0.0866
SHORT syndrome (SHORTS) [MIM:269880] (PLCG1, PIK3R1) 4.339 0.0488 0.0866
Skin creases, congenital symmetric circumferential, 1 (CSCSC1) [MIM:156610] (TUBB, TUBB4B) 2.888 0.0183 0.0416
Skin creases, congenital symmetric circumferential, 1 (CSCSC1) [MIM:156610] (TUBB, TUBB2A) 2.794 0.0208 0.0416
Schimmelpenning-Feuerstein-Mims syndrome Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200] (KRAS, TRBC1) 4.755 0.037 0.126
Sclerosteosis Sclerosteosis 2 (SOST2) [MIM:614305] (MUSK, LRP4) 6.097 0.000214 0.000214
Severe combined immunodeficiency All phenotypes (B2M, TRA@) 4.573 0.042 0.21
All phenotypes (LCK, ZAP70) 2.885 0.0271 0.21
All phenotypes (IL2RG, IL15) 1.214 0.0402 0.21
Immunodeficiency 43 (IMD43) [MIM:241600] (B2M, TRA@) 4.573 0.042 0.042
Immunodeficiency 48 (IMD48) [MIM:269840] (LCK, ZAP70) 2.885 0.0271 0.0541
Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] (IL2RG, IL15) 1.214 0.0402 0.225
Short stature All phenotypes (C3, CFHR4) 3.472 0.000297 0.00233
All phenotypes (C3, CR2) 3.448 0.000317 0.00233
All phenotypes (C3, CD46) 2.432 0.0166 0.0911
All phenotypes (C3, CFH) 1.587 0.000107 0.00233
Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] (C3, CFHR4) 3.472 0.000297 0.000846
Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] (C3, CR2) 3.448 0.000317 0.000846
Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] (C3, CD46) 2.997 0.0247 0.0494
Hemolytic uremic syndrome, atypical, 5 (AHUS5) [MIM:612925] (C3, CFH) 2.548 0.00017 0.000846
Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] (SKI, SMAD2) 3.282 1.68e-11 2.99e-11
Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] (SKI, SMAD3) 3.212 2.99e-11 2.99e-11
Sialuria Sialuria (SIALURIA) [MIM:269921] (GNE, GNE) 2.356 0.00745 0.00745
Sick sinus syndrome All phenotypes (HCN4, HCN4) 1.599 0.036 0.108
Sick sinus syndrome 2 (SSS2) [MIM:163800] (HCN4, HCN4) 1.599 0.036 0.036
Snijders Blok-Campeau syndrome Snijders Blok-Campeau syndrome (SNIBCPS) [MIM:618205] (CHD3, CHD3) 1.501 0.0468 0.0468
Spastic paraplegia All phenotypes (SPAST, SPAST) 0.601 0.000868 0.00347
Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] (SPAST, SPAST) 0.601 0.000868 0.000868
Spermatogenic failure Spermatogenic failure 10 (SPGF10) [MIM:614822] (SEPTIN12, SEPTIN1) 2.408 0.0355 0.248
Spinal muscular atrophy All phenotypes (RHOA, TRPV4) 4.491 0.0445 0.145
All phenotypes (DYNC1I2, DYNC1H1) 4.162 3.36e-5 0.000437
All phenotypes (SMN2, SMN2) 2.091 0.00451 0.0293
All phenotypes (AFG3L2, AFG3L2) 1.128 0.033 0.143
Optic atrophy 12 (OPA12) [MIM:618977] (AFG3L2, AFG3L2) 1.128 0.033 0.033
Scapuloperoneal spinal muscular atrophy (SPSMA) [MIM:181405] (RHOA, TRPV4) 4.491 0.0445 0.0445
Spinal muscular atrophy 1 (SMA1) [MIM:253300] (SMN2, SMN2) 2.676 0.033 0.033
Spinal muscular atrophy 3 (SMA3) [MIM:253400] (SMN2, SMN2) 2.091 0.0281 0.0562
Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] (DYNC1I2, DYNC1H1) 4.162 3.36e-5 6.72e-5
Spinocerebellar ataxia All phenotypes (ABCB7, ABCB7) 1.858 0.0299 0.284
All phenotypes (AFG3L2, AFG3L2) 1.184 0.000158 0.00301
Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310] (ABCB7, ABCB7) 1.858 0.0299 0.0299
Spinocerebellar ataxia 28 (SCA28) [MIM:610246] (AFG3L2, AFG3L2) 1.184 0.000158 0.000158
Split-hand/foot malformation All phenotypes (PPP1R13L, TP63) 3.757 0.00706 0.0181
All phenotypes (PPP1R13B, TP63) 3.692 0.0077 0.0181
All phenotypes (TP53BP2, TP63) 3.572 0.00907 0.0181
Split-hand/foot malformation 4 (SHFM4) [MIM:605289] (PPP1R13L, TP63) 3.757 0.00706 0.0121
Split-hand/foot malformation 4 (SHFM4) [MIM:605289] (PPP1R13B, TP63) 3.692 0.0077 0.0121
Split-hand/foot malformation 4 (SHFM4) [MIM:605289] (TP53BP2, TP63) 3.572 0.00907 0.0121
Stolerman neurodevelopmental syndrome Stolerman neurodevelopmental syndrome (NEDSST) [MIM:618505] (KDM6B, H3C12) 3.161 0.0125 0.0125
Symphalangism All phenotypes (BMP2, NOG) 2.244 0.000445 0.00469
All phenotypes (BMP7, NOG) 1.892 0.00171 0.00685
All phenotypes (GDF5, NOG) 1.625 0.000782 0.00469
Symphalangism, proximal 1A (SYM1A) [MIM:185800] (BMP2, NOG) 2.244 0.000445 0.00178
Symphalangism, proximal 1A (SYM1A) [MIM:185800] (BMP7, NOG) 1.892 0.00171 0.00228
Symphalangism, proximal 1A (SYM1A) [MIM:185800] (GDF5, NOG) 1.892 0.00171 0.00228
Tangier disease Tangier disease (TGD) [MIM:205400] (ABCA1, ABCA12) 3.561 0.0124 0.0124
Tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (BMP2, NOG) 2.829 0.00279 0.00579
Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (BMP7, NOG) 2.477 0.00579 0.00579
Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (GDF5, NOG) 2.477 0.00579 0.00579
Temple-Baraitser syndrome Temple-Baraitser syndrome (TMBTS) [MIM:611816] (KCNH1, CALM2) 5.975 0.0158 0.0239
Temple-Baraitser syndrome (TMBTS) [MIM:611816] (KCNH1, KCNB1) 3.133 0.0164 0.0239
Temple-Baraitser syndrome (TMBTS) [MIM:611816] (KCNH1, KCNF1) 3.068 0.018 0.0239
Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome All phenotypes (H2AC17, H4C16) 1.650 0.00682 0.0739
All phenotypes (H4C16, H2AC12) 1.650 0.00682 0.0739
All phenotypes (H4C16, H2AC14) 1.650 0.00682 0.0739
All phenotypes (H2AZ1, H4C16) 1.593 0.0178 0.0981
All phenotypes (H4C16, H2AC1) 1.593 0.0178 0.0981
All phenotypes (NASP, H4C16) 1.557 0.00941 0.0739
All phenotypes (H4C16, DNAJC9) 1.487 0.0241 0.11
All phenotypes (H4C16, H2AC21) 1.487 0.0241 0.11
All phenotypes (H2AC8, H4C16) 1.387 0.0167 0.0981
All phenotypes (H4C16, SUPT16H) 1.387 0.00827 0.0739
All phenotypes (MCM2, H4C16) 1.109 0.00108 0.0595
All phenotypes (H4C16, DAXX) 0.802 0.00322 0.0739
Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1 (TEBIVANED1) [MIM:619758] (H4C16, HJURP) 2.672 0.0332 0.295
Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 1 (TEBIVANED1) [MIM:619758] (MCM2, H4C16) 1.350 0.0237 0.295
Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3 (TEBIVANED3) [MIM:619950] (H4C16, RBBP7) 1.972 0.0307 0.798
Tessadori-Bicknell-Van Haaften neurodevelopmental syndrome 3 (TEBIVANED3) [MIM:619950] (H4C16, SUPT16H) 1.695 0.0188 0.798
Thanatophoric dysplasia All phenotypes (FGFR3, FGFR3) 2.084 0.000395 0.00276
Thanatophoric dysplasia 1 (TD1) [MIM:187600] (FGF1, FGFR3) 2.425 0.0489 0.151
Thanatophoric dysplasia 1 (TD1) [MIM:187600] (FGFR3, FGFR3) 2.044 0.00168 0.0118
Thrombocythemia Thrombocythemia 3 (THCYT3) [MIM:614521] (JAK2, JAK2) 3.021 0.0152 0.0152
Thrombocytopenia All phenotypes (THPO, MPL) 2.322 0.000478 0.00191
All phenotypes (RAP1B, RASGRP2) 2.144 0.00262 0.00524
Amegakaryocytic thrombocytopenia, congenital, 1 (CAMT1) [MIM:604498] (THPO, MPL) 2.702 0.00861 0.00861
Amegakaryocytic thrombocytopenia, congenital, 2 (CAMT2) [MIM:620481] (THPO, MPL) 2.029 0.0147 0.0147
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies (THC11) [MIM:620654] (RAP1B, RASGRP2) 2.144 0.00262 0.00785
Thyroid dyshormonogenesis All phenotypes (THRB, NCOA2) 1.513 0.0289 0.26
Thyroid hormone resistance, generalized, autosomal dominant (GRTHD) [MIM:188570] (THRB, NCOA2) 1.604 0.0225 0.18
Tooth agenesis, selective Tooth agenesis, selective, X-linked, 1 (STHAGX1) [MIM:313500] (EDA, EDAR) 1.968 0.011 0.022
Treacher Collins syndrome All phenotypes (POLR1C, POLR1G) 4.109 0.00336 0.0202
Treacher Collins syndrome 3 (TCS3) [MIM:248390] (POLR1C, POLR1G) 4.109 0.00336 0.00336
Trichothiodystrophy All phenotypes (ERCC2, GTF2H2C_2) 2.663 0.000777 0.00466
All phenotypes (ERCC2, GTF2H2) 2.341 0.00656 0.0197
Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] (ERCC2, GTF2H2C_2) 2.663 0.000777 0.00233
Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] (ERCC2, GTF2H2) 2.341 0.00656 0.00983
Usher syndrome Usher syndrome 1D/F (USH1DF) [MIM:601067] (CDH23, USH1C) 5.485 0.0223 0.0223
Verheij syndrome Verheij syndrome (VRJS) [MIM:615583] (EWSR1, PUF60) 5.053 0.0301 0.0602
Verheij syndrome (VRJS) [MIM:615583] (RNPS1, PUF60) 5.053 0.0301 0.0602
Vissers-Bodmer syndrome Vissers-Bodmer syndrome (VIBOS) [MIM:619033] (CNOT1, ZFP36) 3.898 0.0076 0.0124
Vissers-Bodmer syndrome (VIBOS) [MIM:619033] (CNOT1, CNOT9) 2.773 0.00824 0.0124
Von Hippel-Lindau disease Von Hippel-Lindau disease (VHLD) [MIM:193300] (VHL, ELOC) 0.515 0.00574 0.149
Von Willebrand disease All phenotypes (VWF, GP1BA) 2.271 0.00933 0.028
Von Willebrand disease 2 (VWD2) [MIM:613554] (VWF, GP1BA) 2.458 0.00587 0.0176
Waardenburg syndrome Waardenburg syndrome 1 (WS1) [MIM:193500] (POU3F2, PAX3) 1.171 0.0275 0.055
Weaver syndrome Weaver syndrome (WVS) [MIM:277590] (EZH2, SKIC8) 4.315 0.00434 0.0174
Weaver syndrome (WVS) [MIM:277590] (EZH2, JARID2) 3.508 0.000287 0.0023
Weaver syndrome (WVS) [MIM:277590] (EED, EZH2) 1.303 0.0366 0.0975
White-Kernohan syndrome White-Kernohan syndrome (WHIKERS) [MIM:619426] (STK19, DDB1) 5.570 0.000655 0.00393
White-Kernohan syndrome (WHIKERS) [MIM:619426] (DDB1, DCAF16) 2.869 0.0256 0.0384
White-Kernohan syndrome (WHIKERS) [MIM:619426] (DDB1, DDB2) 2.833 0.0043 0.0106
White-Kernohan syndrome (WHIKERS) [MIM:619426] (DDB1, DCAF1) 2.729 0.0053 0.0106
White-Kernohan syndrome (WHIKERS) [MIM:619426] (DDB1, CRBN) 2.373 0.0489 0.0587
Wilms tumor All phenotypes (DICER1, DICER1) 5.712 0.000364 0.000728
Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272] (DICER1, DICER1) 5.712 0.000364 0.000364
Xeroderma pigmentosum All phenotypes (ERCC2, GTF2H1) 1.302 0.0087 0.087
Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] (ERCC2, GTF2H1) 1.302 0.0087 0.0348

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(**) All phenotypes refers to the union of mutations related to any phenotype of the same disease.