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Top 10 diseases (for # mutations)
Top 10 diseases Muts Prots Ints
Epileptic encephalopathy 641 62 698
Hemophilia 610 2 16
Mucopolysaccharidosis 534 11 18
Cardiomyopathy 474 44 1207
Charcot-Marie-Tooth disease 410 43 871
Long QT syndrome 372 15 252
Retinitis pigmentosa 359 59 580
Deafness 334 75 724
Marfan syndrome 320 1 19
Glycogen storage disease 291 17 111
Top 10 proteins (for # mutations)
Top 10 proteins Uniprot AC Muts Diseases Ints
F8 P00451 472 1 13
SCN1A P35498 377 4 1
FBN1 P35555 352 6 17
PAH P00439 206 2 3
MYH7 P12883 200 4 17
ABCA4 P78363 199 4 1
GJB1 P08034 188 2 46
ATP7B P35670 183 1 7
GLA P06280 180 1 3
GBA P04062 162 1 3
Diseases with potential edgetic perturbations
DiseasePhenotypeRelevant proteins
ADULT syndrome Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285] TP63
ARTS syndrome ARTS syndrome (ARTS) [MIM:301835] PRPS1
Achondroplasia Achondroplasia (ACH) [MIM:100800] FGFR3
Achondroplasia, severe, with developmental delay and acanthosis nigricans (SADDAN) [MIM:616482] FGFR3
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
Acyl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450] ACADM
Adenomatous polyposis Familial adenomatous polyposis (FAP) [MIM:175100] APC
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
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
Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895] FBLN5
Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B
Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMHD1
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 mental retardation syndrome, X-linked (ATRX) [MIM:301040] Alpha-thalassemia mental retardation 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
Amelogenesis imperfecta Amelogenesis imperfecta 1H (AI1H) [MIM:616221] ITGB6
Amyloidosis Amyloidosis 5 (AMYL5) [MIM:105120] GSN
Amyloidosis 8 (AMYL8) [MIM:105200] B2M, APOA1
Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] TARDBP
Amyotrophic lateral sclerosis 12 (ALS12) [MIM:613435] OPTN
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) [MIM:613954] VCP
Amyotrophic lateral sclerosis 17 (ALS17) [MIM:614696] CHMP2B
Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] PFN1
Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515] ERBB4
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS
Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG
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
Apert syndrome Apert syndrome (APRS) [MIM:101200] FGFR2
Arrhythmogenic right ventricular dysplasia Arrhythmogenic right ventricular dysplasia, familial, 13 (ARVD13) [MIM:615616] CTNNA3
Asplenia Asplenia, isolated congenital (ICAS) [MIM:271400] RPSA
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
Auriculocondylar syndrome Auriculocondylar syndrome 1 (ARCND1) [MIM:602483] GNAI3
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 4 (CSS4) [MIM:614609] SMARCA4
Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS
Autoimmune lymphoproliferative syndrome 5 (ALPS5) [MIM:616100] CTLA4
Autoimmune polyendocrine syndrome Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE
Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM:614878] PLCG2
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
Bare lymphocyte syndrome Bare lymphocyte syndrome 2 (BLS2) [MIM:209920] RFXANK
Basal cell nevus syndrome Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] NRAS
Bladder cancer Bladder cancer (BLC) [MIM:109800] FGFR3
Bleeding disorder Bleeding disorder, platelet-type 11 (BDPLT11) [MIM:614201] GP6
Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193] ACTN1
Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] ITGA2B, ITGB3
Blepharocheilodontic syndrome Blepharocheilodontic syndrome 1 (BCDS1) [MIM:119580] CDH1
Brachydactyly Brachydactyly C (BDC) [MIM:113100] GDF5
Brachydactyly E2 (BDE2) [MIM:613382] PTHLH
Branchiootic syndrome Branchiootic syndrome 3 (BOS3) [MIM:608389] SIX1
Breast cancer Breast cancer (BC) [MIM:114480] CHEK2, PALB2, BRCA1, BRCA2
Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1
Bronchiectasis Bronchiectasis with or without elevated sweat chloride 2 (BESC2) [MIM:613021] SCNN1A
Brugada syndrome Brugada syndrome 1 (BRGDA1) [MIM:601144] SCN5A
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
Cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF
Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] KRAS
Cardiofaciocutaneous syndrome 3 (CFC3) [MIM:615279] MAP2K1
Cardiofaciocutaneous syndrome 4 (CFC4) [MIM:615280] MAP2K2
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, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112] LMNA
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 restrictive 1 (RCM1) [MIM:115210] TNNI3
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 17, multiple types (CTRCT17) [MIM:611544] CRYBB1
Cataract 23, multiple types (CTRCT23) [MIM:610425] CRYBA4
Cataract 30, multiple types (CTRCT30) [MIM:116300] VIM
Cerebellar ataxia and hypogonadotropic hypogonadism Hypogonadotropic hypogonadism 24 without anosmia (HH24) [MIM:229070] FSHB
Cerebral amyloid angiopathy Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] APP
Cerebral cavernous malformations Cerebral cavernous malformations 1 (CCM1) [MIM:116860] KRIT1
Cerebral cavernous malformations 2 (CCM2) [MIM:603284] CCM2
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
Cervical cancer Cervical cancer (CERCA) [MIM:603956] FGFR3
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882] RAB7A
Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684] NEFL
Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595] HSPB1
Charcot-Marie-Tooth disease 2O (CMT2O) [MIM:614228] DYNC1H1
Charcot-Marie-Tooth disease 2Y (CMT2Y) [MIM:616687] VCP
Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070] PRPS1
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, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710] NCF2
Chronic infantile neurologic cutaneous and articular syndrome Chronic infantile neurologic cutaneous and articular syndrome (CINCA) [MIM:607115] NLRP3
Coagulation factor deficiency Factor XI deficiency (FA11D) [MIM:612416] F11
Coffin-Lowry syndrome Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3
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
Coloboma, ocular Coloboma of optic nerve (COLON) [MIM:120430] PAX6
Coloboma, ocular, autosomal dominant (COAD) [MIM:120200] PAX6
Colorectal cancer Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310] MLH1
Hereditary non-polyposis colorectal cancer 6 (HNPCC6) [MIM:614331] TGFBR2
Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] HRAS, NRAS
Colorectal cancer (CRC) [MIM:114500] Colorectal cancer (CRC) [MIM:114500] MLH1, MT-CO1, CTNNB1, BRAF
Combined oxidative phosphorylation deficiency Combined oxidative phosphorylation deficiency 19 (COXPD19) [MIM:615595] LYRM4
Complement component deficiency Complement component 7 deficiency (C7D) [MIM:610102] C7
Complement factors deficiency Complement factor I deficiency (CFI deficiency) [MIM:610984] CFI
Cone-rod dystrophy Cone-rod dystrophy 2 (CORD2) [MIM:120970] CRX
Spondylometaphyseal dysplasia with cone-rod dystrophy (SMDCRD) [MIM:608940] PCYT1A
Congenital bilateral absence of the vas deferens Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR
Congenital central hypoventilation syndrome (CCHS) [MIM:209880] Congenital central hypoventilation syndrome (CCHS) [MIM:209880] RET
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 short bowel syndrome Congenital short bowel syndrome (CSBS) [MIM:615237] CLMP
Corneal dystrophy Corneal dystrophy, Meesmann (MECD) [MIM:122100] KRT3
Cornelia de Lange syndrome Cornelia de Lange syndrome 4 (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 6 (CDCBM6) [MIM:615771] TUBB
Cowden disease Cowden syndrome 1 (CWS1) [MIM:158350] PTEN
Craniosynostosis Craniosynostosis 2 (CRS2) [MIM:604757] MSX2
Craniosynostosis 3 (CRS3) [MIM:615314] TCF12
Trigonocephaly 1 (TRIGNO1) [MIM:190440] FGFR1
Crohn disease Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2
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
Cyanosis Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2
Cyclic haematopoiesis (CH) [MIM:162800] Cyclic haematopoiesis (CH) [MIM:162800] ELANE
Cystic fibrosis (CF) [MIM:219700] Cystic fibrosis (CF) [MIM:219700] CFTR
Deafness Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1
Deafness, autosomal dominant, 64 (DFNA64) [MIM:614152] DIABLO
Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916] KARS1
Dementia Dementia, Lewy body (DLB) [MIM:127750] SNCA
Frontotemporal dementia (FTD) [MIM:600274] 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
Denys-Drash syndrome Denys-Drash syndrome (DDS) [MIM:194080] WT1
Diabetes mellitus Diabetes mellitus, insulin-dependent, 2 (IDDM2) [MIM:125852] INS
Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] INSR
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] 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
Du Pan syndrome Du Pan syndrome (DPS) [MIM:228900] GDF5
Dysfibrinogenemia Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] FGA, FGG, FGB
Dystonia Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1
Dystonia, juvenile-onset (DJO) [MIM:607371] ACTB
Epilepsy, progressive myoclonic 9 (EPM9) [MIM:616540] LMNB2
Ectodermal dysplasia Ectodermal dysplasia 7, hair/nail type (ECTD7) [MIM:614929] KRT74
Ectodermal dysplasia and immunodeficiency 1 (EDAID1) [MIM:300291] IKBKG
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 2, autosomal dominant (EDMD2) [MIM:181350] LMNA
Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:616516] LMNA
Encephalocraniocutaneous lipomatosis Encephalocraniocutaneous lipomatosis (ECCL) [MIM:613001] FGFR1
Encephalopathy, acute, infection-induced (herpes-specific) Encephalopathy, acute, infection-induced, Herpes-specific, 7 (IIAE7) [MIM:616532] IRF3
Encephalopathy, acute, infection-induced, herpes-specific, 8 (IIAE8) [MIM:617900] TBK1
Enhanced S cone syndrome Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3
Epidermolysis bullosa Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730] ITGB4
Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760] KRT5, KRT14
Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900] KRT5, KRT14
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14
Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001] KRT5
Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10, KRT1
Epilepsy 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, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570] GRIN2A
Epilepsy, idiopathic generalized 13 (EIG13) [MIM:611136] GABRA1
Generalized epilepsy with febrile seizures plus 1 (GEFS+1) [MIM:604233] SCN1B
Generalized epilepsy with febrile seizures plus 3 (GEFS+3) [MIM:611277] GABRG2
Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] STX1B
Juvenile myoclonic epilepsy 5 (EJM5) [MIM:611136] GABRA1
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy (PNKD3) [MIM:609446] KCNMA1
Epileptic encephalopathy Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721] SCN2A
Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473] GNAO1
Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672] CDKL5
Epileptic encephalopathy, early infantile, 31 (EIEE31) [MIM:616346] DNM1
Epileptic encephalopathy, early infantile, 33 (EIEE33) [MIM:616409] EEF1A2
Epileptic encephalopathy, early infantile, 44 (EIEE44) [MIM:617132] UBA5
Epileptic encephalopathy, early infantile, 52 (EIEE52) [MIM:617350] SCN1B
Epileptic encephalopathy, early infantile, 56 (EIEE56) [MIM:617665] YWHAG
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
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
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
Familial hyperproinsulinemia Hyperproinsulinemia (HPRI) [MIM:616214] INS
Fanconi anemia Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] BRCA2
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
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 facial dermal dysplasia Focal facial dermal dysplasia 3, Setleis type (FFDD3) [MIM:227260] TWIST2
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
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
Gastric cancer Gastric cancer (GASC) [MIM:613659] KRAS
Hereditary diffuse gastric cancer (HDGC) [MIM:137215] CDH1
Gastrointestinal stromal tumor Gastrointestinal stromal tumor (GIST) [MIM:606764] PDGFRA
Germ cell tumor Testicular germ cell tumor (TGCT) [MIM:273300] FGFR3, STK11
Glanzmann thrombasthenia Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B, 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] H3C1, H3-3A
Glucocorticoid resistance, generalized (GCCR) [MIM:615962] Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1
Glutaric aciduria Glutaric aciduria 2B (GA2B) [MIM:231680] ETFB
Glycogen storage disease of heart Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740] PRKAG2
Growth hormone deficiency Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100] GH1
Growth hormone insensitivity Growth hormone insensitivity with immunodeficiency (GHII) [MIM:245590] STAT5B
Growth hormone insensitivity, partial (GHIP) [MIM:604271] GHR
Growth retardation Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] CSNK2A1
Hartsfield syndrome Hartsfield syndrome (HRTFDS) [MIM:615465] FGFR1
Hemangioma capillary infantile Hemangioma, capillary infantile (HCI) [MIM:602089] FLT4
Hemolytic uremic syndrome Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] CFH
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] C3
Hemophilia A (HEMA) [MIM:306700] Hemophilia A (HEMA) [MIM:306700] F8
Hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506] GDF2
Hepatocellular carcinoma Hepatocellular carcinoma (HCC) [MIM:114550] MET
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
Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] LMNA
Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060] Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060] STAT3
Hypercholanemia Familial hypercholanemia (FHCA) [MIM:607748] TJP2
Hypercholesterolemia Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] PCSK9
Hyperinsulinemic hypoglycemia Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] INSR
Hyperoxaluria Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT
Hyperparathyroidism Hyperparathyroidism, transient neonatal (HRPTTN) [MIM:618188] TRPV6
Hyperphenylalaninemia Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910] GCH1
Hyperthyroxinemia, dystransthyretinemic Hyperthyroxinemia, dystransthyretinemic (DTTRH) [MIM:145680] TTR
Hypochondroplasia Hypochondroplasia (HCH) [MIM:146000] FGFR3
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1
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, 5 (CHNG5) [MIM:225250] NKX2-5
Hypothyroidism, congenital, non-goitrous, 6 (CHNG6) [MIM:614450] THRA
Hypotonia, ataxia, and delayed development syndrome Hypotonia, ataxia, and delayed development syndrome (HADDS) [MIM:617330] EBF3
Hystrix-like ichthyosis with deafness Ichthyosis hystrix-like with deafness syndrome (HID syndrome) [MIM:602540] GJB2
IRAK4 deficiency IRAK4 deficiency (IRAK4D) [MIM:607676] IRAK4
Ichthyosis Ichthyosis annular epidermolytic (AEI) [MIM:607602] KRT10, KRT1
Ichthyosis, congenital, autosomal recessive 11 (ARCI11) [MIM:602400] ST14
Immunodeficiency 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 27A (IMD27A) [MIM:209950] IFNGR1
Immunodeficiency 28 (IMD28) [MIM:614889] IFNGR2
Immunodeficiency 31A (IMD31A) [MIM:614892] STAT1
Immunodeficiency 33 (IMD33) [MIM:300636] IKBKG
Immunodeficiency 9 (IMD9) [MIM:612782] ORAI1
Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B
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, autosomal recessive 67 (MRT67) [MIM:618295] EIF3F
Interstitial lung and liver disease Rajab interstitial lung disease with brain calcifications (RILDBC) [MIM:613658] FARSB
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
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] NRAS, FGFR3
Keratitis-ichthyosis-deafness syndrome Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] GJB2
Keratoendothelitis fugax hereditaria Keratoendothelitis fugax hereditaria (KEFH) [MIM:148200] NLRP3
Keratosis, seborrheic (KERSEB) [MIM:182000] Keratosis, seborrheic (KERSEB) [MIM:182000] FGFR3
Lacrimo-auriculo-dento-digital syndrome Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] FGFR2, FGFR3
Leber hereditary optic neuropathy (LHON) [MIM:535000] Leber hereditary optic neuropathy (LHON) [MIM:535000] MT-ND5, MT-ND2, MT-ND6, MT-CO3, MT-ND4L
Leber optic neuropathy Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001] MT-ND6
Left ventricular non-compaction 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, MT-ND3
Leopard syndrome LEOPARD syndrome 1 (LPRD1) [MIM:151100] PTPN11
LEOPARD syndrome 2 (LPRD2) [MIM:611554] RAF1
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] PTPN11, NRAS, KRAS
Leukocyte adhesion deficiency Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2
Leukodystrophy hypomyelinating Leukodystrophy, hypomyelinating, 14 (HLD14) [MIM:617899] UFM1
Leukodystrophy with vanishing white matter Leukodystrophy with vanishing white matter (VWM) [MIM:603896] EIF2B5, EIF2B1, EIF2B2, EIF2B4, EIF2B3
Leukodystrophy, hypomyelinating, 15 (HLD15) [MIM:617951] Leukodystrophy, hypomyelinating, 15 (HLD15) [MIM:617951] EPRS1
Li-Fraumeni syndrome Li-Fraumeni syndrome (LFS) [MIM:151623] TP53
Limb-girdle muscular dystrophy Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA
Lipodystrophy 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 3 (LIS3) [MIM:611603] TUBA1A
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
Long QT syndrome Long QT syndrome 14 (LQT14) [MIM:616247] CALM1
Long QT syndrome 15 (LQT15) [MIM:616249] CALM2
Long QT syndrome 7 (LQT7) [MIM:170390] KCNJ2
Lung cancer (LNCR) [MIM:211980] Lung cancer (LNCR) [MIM:211980] BRAF
Lymphoma Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A
MASP2 deficiency MASP2 deficiency (MASPD) [MIM:613791] MASP2
MEHMO syndrome (MEHMO) [MIM:300148] MEHMO syndrome (MEHMO) [MIM:300148] EIF2S3
MYD88 deficiency MYD88 deficiency (MYD88D) [MIM:612260] MYD88
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
Marfan syndrome Marfan syndrome (MFS) [MIM:154700] FBN1
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
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
Melanoma Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848] POT1
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] CDK4
Melanosis, neurocutaneous Melanosis, neurocutaneous (NCMS) [MIM:249400] NRAS
Mental retardation Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASK
Mental retardation with language impairment and autistic features (MRLIAF) [MIM:613670] FOXP1
Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966] TAF1
Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590] HUWE1
Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563] DYNC1H1
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] PPP2R1A
Mental retardation, autosomal dominant 38 (MRD38) [MIM:616393] EEF1A2
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] GNB1
Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061] TRIO
Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] RAC1
Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799] CAMK2B
Mental retardation, autosomal recessive 34, with variant lissencephaly (MRT34) [MIM:614499] CRADD
Mental retardation, autosomal recessive 60 (MRT60) [MIM:617432] TAF13
Mental retardation, autosomal recessive 63 (MRT63) [MIM:618095] CAMK2A
Mental retardation, autosomal recessive 64 (MRT64) [MIM:618103] LINGO1
Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] Mental retardation, autosomal dominant 53 (MRD53) [MIM:617798] CAMK2A
Microcephaly Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950] KIF11
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 complex IV deficiency (MT-C4D) [MIM:220110] Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] MT-CO2, MT-CO1, COX6B1
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 5 (MC1DN5) [MIM:618226] NDUFS1
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 II deficiency (MT-C2D) [MIM:252011] SDHA
Mitochondrial complex III deficiency, nuclear 5 (MC3DN5) [MIM:615160] UQCRC2
Mitochondrial complex III deficiency, nuclear 6 (MC3DN6) [MIM:615453] CYC1
Mitochondrial complex V deficiency, nuclear type 4 (MC5DN4) [MIM:615228] ATP5F1A
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) [MIM:540000] MT-ND5, MT-ND1, MT-ND6
Monilethrix Monilethrix (MNLIX) [MIM:158000] KRT86, KRT81, KRT83
Muenke syndrome Muenke syndrome (MNKS) [MIM:602849] FGFR3
Multicentric osteolysis, nodulosis, and arthropathy Multicentric osteolysis, nodulosis, and arthropathy (MONA) [MIM:259600] MMP2
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
Myasthenic syndrome Myasthenic syndrome, congenital, 18 (CMS18) [MIM:616330] SNAP25
Myeloperoxidase deficiency Myeloperoxidase deficiency (MPOD) [MIM:254600] MPO
Myopathy 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, myosin storage, autosomal dominant (MSMA) [MIM:608358] MYH7
Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883] ORAI1
N-terminal acetyltransferase deficiency N-terminal acetyltransferase deficiency (NATD) [MIM:300855] NAA10
Narcolepsy Narcolepsy 1 (NRCLP1) [MIM:161400] HCRT
Nemaline myopathy Cap myopathy 1 (CAPM1) [MIM:609284] TPM3
Nemaline myopathy 1 (NEM1) [MIM:609284] TPM3
Nephrotic syndrome 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
Neuroblastoma Neuroblastoma 3 (NBLST3) [MIM:613014] ALK
Neurodevelopmental disorder with brain, liver, and lung abnormalities Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) [MIM:618354] PPP2CA
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577] RAC3
Neurodevelopmental disorder with involuntary movements Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] GNAO1
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
Neurofibromatosis Neurofibromatosis 2 (NF2) [MIM:101000] NF2
Neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] NF1
Neuronopathy Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] HSPB8
Neuropathy Neuropathy, hereditary sensory and autonomic, 5 (HSAN5) [MIM:608654] NGF
Neutropenia Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847] GFI1
Neutropenia, severe congenital, X-linked (XLN) [MIM:300299] WAS
Neutrophil immunodeficiency syndrome Immunodeficiency, common variable, 13 (CVID13) [MIM:616873] IKZF1
Neutrophil immunodeficiency syndrome (NEUID) [MIM:608203] RAC2
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 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-like disorder with loose anagen hair 2 (NSLH2) [MIM:617506] PPP1CB
Noonan-like syndrome Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] CBL
Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886] Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886] NTRK2
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
Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] BMP4
Osseous heteroplasia Progressive osseous heteroplasia (POH) [MIM:166350] GNAS
Osteogenesis imperfecta 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
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
Otopalatodigital syndrome Otopalatodigital syndrome 2 (OPD2) [MIM:304120] FLNA
Ovarian cancer Ovarian cancer (OC) [MIM:167000] CTNNB1, BRCA1
Ovarian dysgenesis Ovarian dysgenesis 8 (ODG8) [MIM:618187] ESR2
PCWH Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136] SOX10
Pachyonychia congenita Pachyonychia congenita 1 (PC1) [MIM:167200] KRT16
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
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 6 (PARK6) [MIM:605909] PINK1
Parkinson disease 8 (PARK8) [MIM:607060] LRRK2
Paroxysmal extreme pain disorder Paroxysmal extreme pain disorder (PEPD) [MIM:167400] SCN9A
Periodic fever Familial hibernian fever (FHF) [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
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
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 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
Polycystic kidney disease Polycystic kidney disease 2 with or without polycystic liver disease (PKD2) [MIM:613095] PKD2
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 9 (PCH9) [MIM:615809] AMPD2
Premature chromatid separation trait Premature chromatid separation trait (PCS) [MIM:176430] BUB1B
Premature ovarian failure Premature ovarian failure 7 (POF7) [MIM:612964] NR5A1
Progressive external ophthalmoplegia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131] POLG2
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] CHEK2, EPHB2
Pseudohypoaldosteronism Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2
Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] WNK4
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3
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
Renal cell carcinoma Renal cell carcinoma (RCC) [MIM:144700] VHL
Renal cell carcinoma papillary (RCCP) [MIM:605074] MET
Retinitis pigmentosa Retinitis pigmentosa 13 (RP13) [MIM:600059] PRPF8
Retinitis pigmentosa 18 (RP18) [MIM:601414] PRPF3
Retinitis pigmentosa 60 (RP60) [MIM:613983] PRPF6
Retinitis pigmentosa 62 (RP62) [MIM:614181] MAK
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 (RP) [MIM:268000] Retinitis pigmentosa (RP) [MIM:268000] CRX
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
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
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] HRAS
Segawa syndrome Segawa syndrome autosomal recessive (ARSEGS) [MIM:605407] TH
Seizures Febrile seizures, familial, 8 (FEB8) [MIM:611277] GABRG2
Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] SCN2A
Severe combined immunodeficiency Immunodeficiency 15A (IMD15A) [MIM:618204] IKBKB
Immunodeficiency 43 (IMD43) [MIM:241600] B2M
Immunodeficiency 48 (IMD48) [MIM:269840] ZAP70
Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG
Short QT syndrome Short QT syndrome 2 (SQT2) [MIM:609621] KCNQ1
Short QT syndrome 3 (SQT3) [MIM:609622] KCNJ2
Short stature Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541] XRCC4
Short-rib thoracic dysplasia 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
Singleton-Merten syndrome Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298] DDX58
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 paraplegia 4, autosomal dominant (SPG4) [MIM:182601] Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] SPAST
Speech-language disorder 1 Speech-language disorder 1 (SPCH1) [MIM:602081] FOXP2
Spinal muscular atrophy Spinal muscular atrophy 1 (SMA1) [MIM:253300] SMN1
Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] DYNC1H1
Split-hand/foot malformation Split-hand/foot malformation 4 (SHFM4) [MIM:605289] TP63
Stormorken syndrome Stormorken syndrome (STRMK) [MIM:185070] STIM1
Subcortical heterotopia Subcortical band heterotopia (SBH) [MIM:607432] PAFAH1B1
Supranuclear palsy Progressive supranuclear palsy 1 (PSNP1) [MIM:601104] MAPT
Sveinsson chorioretinal atrophy Sveinsson chorioretinal atrophy (SCRA) [MIM:108985] TEAD1
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
Thalassemia Beta-thalassemia (B-THAL) [MIM:613985] HBB
Thanatophoric dysplasia Thanatophoric dysplasia 1 (TD1) [MIM:187600] FGFR3
Thanatophoric dysplasia 2 (TD2) [MIM:187601] FGFR3
Thrombophilia 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
Trichothiodystrophy Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] ERCC2
Trichothiodystrophy 3, photosensitive (TTD3) [MIM:616395] GTF2H5
Triosephosphate isomerase deficiency Triosephosphate isomerase deficiency (TPID) [MIM:615512] TPI1
Usher syndrome Usher syndrome 1G (USH1G) [MIM:606943] USH1G
Ventricular tachycardia Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916] CALM1
Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4
Vohwinkel syndrome Vohwinkel syndrome (VOWNKL) [MIM:124500] GJB2
Von Willebrand disease Pseudo-von Willebrand disease (VWDP) [MIM:177820] GP1BA
Waardenburg syndrome Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3
Waardenburg syndrome 2E (WS2E) [MIM:611584] SOX10
Waardenburg syndrome 3 (WS3) [MIM:148820] PAX3
Weaver syndrome Weaver syndrome (WVS) [MIM:277590] EZH2
White sponge nevus White sponge nevus 1 (WSN1) [MIM:193900] KRT4
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 (WPWS) [MIM:194200] PRKAG2
Xeroderma pigmentosum 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
Yao syndrome Yao syndrome (YAOS) [MIM:617321] NOD2
Zimmermann-Laband syndrome Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] KCNH1

[Show all]

Diseases with mutations on the two sides of the same interaction
DiseasePhenotypeRelevant interactions
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)
Acrodysostosis Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] (PRKAR1A,PRKACA)
Adrenal hyperplasia ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080] (GNB1,GNAS)
Adrenal hypoplasia, congenital (AHC) [MIM:300200] (NR0B1,NR5A1)
Afibrinogenemia Congenital afibrinogenemia (CAFBN) [MIM:202400] (FGB,FGG), (F2,FGA), (FGA,FGB), (FGA,FGG)
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)
Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895] (EFEMP2,FBLN5)
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)
Alexander disease Alexander disease (ALXDRD) [MIM:203450] (VIM,GFAP), (GFAP,DES)
Alzheimer disease Alzheimer disease 1 (AD1) [MIM:104300] (APP,PSEN2), (APP,PSEN1)
Alzheimer disease mitochondrial (AD-MT) [MIM:502500] (NDUFS8,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)
Antithrombin III deficiency Antithrombin III deficiency (AT3D) [MIM:613118] (F10,SERPINC1), (F2,SERPINC1), (F9,SERPINC1)
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, 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)
Autoimmune disease, multisystem, infantile-onset, Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (STAT3,STAT1)
Coffin-Siris syndrome 4 (CSS4) [MIM:614609] (SMARCA4,CHD4)
Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] (FAS,FADD), (CALM1,FAS)
Bardet-Biedl syndrome Bardet-Biedl syndrome 1 (BBS1) [MIM:209900] (BBS7,BBS1), (BBS1,BBS2), (BBS1,BBS4)
Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] (BBS12,BBS10)
Bardet-Biedl syndrome 2 (BBS2) [MIM:615981] (BBS1,BBS2), (BBS7,BBS2)
Bardet-Biedl syndrome 4 (BBS4) [MIM:615982] (BBS1,BBS4)
Bardet-Biedl syndrome 7 (BBS7) [MIM:615984] (BBS7,BBS1), (BBS7,BBS2)
Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] (BBS12,BBS10)
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)
Bosch-Boonstra-Schaaf optic atrophy syndrome Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] (ESR1,NR2F1)
Brachydactyly Brachydactyly A1, C (BDA1C) [MIM:615072] (GDF5,NOG)
Brachydactyly B2 (BDB2) [MIM:611377] (GDF5,NOG)
Brachydactyly C (BDC) [MIM:113100] (GDF5,NOG)
Breast cancer Breast cancer (BC) [MIM:114480] (PIK3R1,PIK3CA)
Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399] (RAD51C,RAD51)
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)
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] (BRAF,YWHAG)
Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] (KRAS,NF1)
Cardiomyopathy Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] (LMNA,LMNB2), (BANF1,LMNA), (KRT6A,LMNA)
Cardiomyopathy, dilated 1D (CMD1D) [MIM:601494] (TPM1,TNNT2)
Cardiomyopathy, dilated 1FF (CMD1FF) [MIM:613286] (CALM2,TNNI3), (TNNI3,TNNT2), (TNNI3,TNNC1)
Cardiomyopathy, dilated 1GG (CMD1GG) [MIM:613642] (SDHB,SDHA)
Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184] (CRYAA,CRYAB)
Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426] (MYH7,XRCC4), (MYL3,MYH7)
Cardiomyopathy, dilated 1Z (CMD1Z) [MIM:611879] (TNNI3,TNNC1)
Cardiomyopathy, dilated, with hypergonadotropic hypogonadism (CMDHH) [MIM:212112] (LMNA,LMNB2)
Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600] (MYH7,XRCC4), (MYL3,MYH7), (MYL2,MYH7)
Cardiomyopathy, familial hypertrophic 10 (CMH10) [MIM:608758] (MYL2,MYH7)
Cardiomyopathy, familial hypertrophic 13 (CMH13) [MIM:613243] (TNNT2,TNNC1), (TNNI3,TNNC1)
Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195] (TPM1,TNNT2), (TNNI3,TNNT2), (TNNT2,TNNC1)
Cardiomyopathy, familial hypertrophic 3 (CMH3) [MIM:115196] (TPM2,TPM1)
Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690] (CALM2,TNNI3), (TNNI3,TNNC1)
Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751] (MYL3,MYH7)
Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] (CALM2,TNNI3), (TNNI3,TNNC1)
Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197] Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197] (ACTG1,MYBPC3)
Cataract Cataract 1, multiple types (CTRCT1) [MIM:116200] (GJB2,GJA8)
Cataract 30, multiple types (CTRCT30) [MIM:116300] (VIM,GFAP)
Cataract 9, multiple types (CTRCT9) [MIM:604219] (CRYAA,HSPB1), (CRYAA,CRYAB)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] (POLG,POLG2)
Cerebral amyloid angiopathy Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP,PSEN2), (APP,PSEN1)
Cerebrooculofacioskeletal syndrome Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) [MIM:610758] (ERCC1,ERCC4)
Cervical cancer Cervical cancer (CERCA) [MIM:603956] (FGFR3,FGF9)
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595] (CRYAB,HSPB1), (CRYAA,HSPB1)
Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] (GJB1,GJB2)
Coagulation factor deficiency Factor II deficiency (FA2D) [MIM:613679] (F2,FGB), (F2,SERPINC1), (F2,GP1BA), (F2,PROC), (F2,SERPIND1), (F2,FGA)
Factor VII deficiency (FA7D) [MIM:227500] (F7,POGLUT1)
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)
Complement factors deficiency Complement factor H deficiency (CFHD) [MIM:609814] (C3,CFH), (CFI,CFH)
Cone-rod dystrophy Cone dystrophy retinal 3B (RCD3B) [MIM:610356] (KCNB1,KCNV2)
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)
Corneal dystrophy Corneal dystrophy, Meesmann (MECD) [MIM:122100] (KRT16,KRT3), (KRT14,KRT3)
Cornelia de Lange syndrome Cornelia de Lange syndrome 4 (CDLS4) [MIM:614701] (RAD21,STAG1), (RAD21,STAG2)
Cortical dysplasia complex with other brain malformations Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039] (TUBB3,TUBA1A)
Cowden disease Cowden syndrome 5 (CWS5) [MIM:615108] (PIK3R1,PIK3CA)
Craniosynostosis Craniosynostosis 3 (CRS3) [MIM:615314] (TWIST2,TCF12)
Crouzon syndrome Crouzon syndrome (CS) [MIM:123500] (FGF10,FGFR2), (FGFR2,FGFR3)
Cutis laxa Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100] (EFEMP2,FBLN5)
Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] (EFEMP2,FBLN5)
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)
Dehydrated hereditary stomatocytosis 2 Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689] (KCNN4,CALM1)
Dementia Frontotemporal dementia (FTD) [MIM:600274] (MAPT,TUBA1A), (MAPT,TUBB3)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] (OPTN,TBK1)
Diabetes mellitus Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (ABCC8,KCNJ11), (INS,INSR)
Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582] (ABCC8,KCNJ11)
Dowling-Degos disease Dowling-Degos disease 4 (DDD4) [MIM:615696] (F7,POGLUT1)
Du Pan syndrome Du Pan syndrome (DPS) [MIM:228900] (GDF5,NOG)
Dysfibrinogenemia Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] (F2,FGB), (FGB,FGG), (F2,FGA), (FGA,FGB), (FGA,FGG)
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)
Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] (LMNA,LMNB2), (BANF1,LMNA), (KRT6A,LMNA)
Emery-Dreifuss muscular dystrophy 3, autosomal recessive (EDMD3) [MIM:616516] (LMNA,LMNB2)
Enhanced S cone syndrome Enhanced S cone syndrome (ESCS) [MIM:268100] (PPARG,NR2E3)
Epidermolysis bullosa Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760] (KRT16,KRT5), (KRT86,KRT14), (KRT14,KRT81), (KRT5,KRT25), (KRT14,KRT5), (KRT14,KRT3)
Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900] (KRT16,KRT5), (KRT86,KRT14), (KRT14,KRT81), (KRT5,KRT25), (KRT14,KRT5), (KRT14,KRT3)
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT16,KRT5), (KRT86,KRT14), (KRT14,KRT81), (KRT5,KRT25), (KRT14,KRT5), (KRT14,KRT3)
Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001] (KRT16,KRT5), (KRT14,KRT5), (KRT5,KRT25)
Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT1,KRT10)
Epilepsy Epilepsy, childhood absence 2 (ECA2) [MIM:607681] (GABRG2,GABRB2), (GABRG2,GABRB3)
Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570] (GRIN1,GRIN2A)
Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513] (CHRNB2,CHRNA4)
Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375] (CHRNB2,CHRNA4)
Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403] (SCN1A,FGF12)
Generalized epilepsy with febrile seizures plus 3 (GEFS+3) [MIM:611277] (GABRG2,GABRB2), (GABRG2,GABRB3)
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,GABRB3)
Epileptic encephalopathy Epileptic encephalopathy, early infantile, 11 (EIEE11) [MIM:613721] (SCN2B,SCN2A)
Epileptic encephalopathy, early infantile, 19 (EIEE19) [MIM:615744] (GABRA1,GABRG2), (GABRA1,GABRB3), (GABRA1,GABRB2)
Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056] (KCNH1,KCNB1), (KCNB1,KCNV2)
Epileptic encephalopathy, early infantile, 4 (EIEE4) [MIM:612164] (STX1B,STXBP1)
Epileptic encephalopathy, early infantile, 43 (EIEE43) [MIM:617113] (GABRA1,GABRB3), (GABRG2,GABRB3)
Epileptic encephalopathy, early infantile, 47 (EIEE47) [MIM:617166] (FGF12,SCN5A), (SCN1A,FGF12)
Epileptic encephalopathy, early infantile, 56 (EIEE56) [MIM:617665] (RAF1,YWHAG), (YWHAG,LRRK2), (BRAF,YWHAG)
Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208] (SCN1A,FGF12)
Epileptic encephalopathy, early infantile, 74 (EIEE74) [MIM:618396] (GABRA1,GABRG2), (GABRG2,GABRB2), (GABRG2,GABRB3)
Epileptic encephalopathy, infantile or early childhood, 2 (IECEE2) [MIM:617829] (GABRG2,GABRB2), (GABRA1,GABRB2)
Erythrocytosis Erythrocytosis, familial, 3 (ECYT3) [MIM:609820] (EPAS1,EGLN1)
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (VHL,EPAS1), (EPAS1,EGLN1)
Estrogen resistance Estrogen resistance (ESTRR) [MIM:615363] (ESR1,NR2F1)
Exudative vitreoretinopathy Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] (NDP,FZD4)
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)
Familial hypercholesterolemia (FH) [MIM:143890] Familial hypercholesterolemia (FH) [MIM:143890] (LDLR,PCSK9)
Familial hyperproinsulinemia Hyperproinsulinemia (HPRI) [MIM:616214] (INS,INSR)
Fanconi anemia Fanconi anemia complementation group Q (FANCQ) [MIM:615272] (ERCC1,ERCC4)
Fanconi anemia, complementation group R (FANCR) [MIM:617244] (RAD51C,RAD51)
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 facial dermal dysplasia Focal facial dermal dysplasia 3, Setleis type (FFDD3) [MIM:227260] (TWIST2,TCF12), (TCF4,TWIST2)
GM1/2-gangliosidosis GM2-gangliosidosis 1 (GM2G1) [MIM:272800] (HEXA,HEXB)
GM2-gangliosidosis 2 (GM2G2) [MIM:268800] (HEXA,HEXB)
Gastric cancer Gastric cancer (GASC) [MIM:613659] (KRAS,NF1)
Germ cell tumor Testicular germ cell tumor (TGCT) [MIM:273300] (FGFR2,FGFR3)
Glanzmann thrombasthenia Glanzmann thrombasthenia (GT) [MIM:273800] (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] (KDM6B,H3C1)
Glutaric aciduria Glutaric aciduria 2A (GA2A) [MIM:231680] (ETFA,ETFB)
Glutaric aciduria 2B (GA2B) [MIM:231680] (ETFA,ETFB)
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,GHR), (GH1,PRLR)
Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100] (GH1,GHR), (GH1,PRLR)
Growth hormone insensitivity Growth hormone insensitivity, partial (GHIP) [MIM:604271] (GH1,GHR)
Hartsfield syndrome Hartsfield syndrome (HRTFDS) [MIM:615465] (FGFR1,FGF9)
Heimler syndrome Heimler syndrome 2 (HMLR2) [MIM:616617] (PEX1,PEX6)
Hemolytic uremic syndrome 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)
Hemophilia B (HEMB) [MIM:306900] Hemophilia B (HEMB) [MIM:306900] (F9,SERPINC1)
Hepatocellular carcinoma Hepatocellular carcinoma (HCC) [MIM:114550] (PIK3R1,PIK3CA), (MET,BTK)
High density lipoprotein deficiency High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] (ABCA1,ABCA12)
Hirschsprung disease Hirschsprung disease 1 (HSCR1) [MIM:142623] (RET,GDNF)
Hirschsprung disease 3 (HSCR3) [MIM:613711] (RET,GDNF)
Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] (LMNA,LMNB2), (BANF1,LMNA)
Hypercholesterolemia Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] (LDLR,PCSK9)
Hyperinsulinemic hypoglycemia Familial hyperinsulinemic hypoglycemia 1 (HHF1) [MIM:256450] (ABCC8,KCNJ11)
Familial hyperinsulinemic hypoglycemia 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)
Hypocalcemia Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361] (GNA11,GNB1)
Hypochondroplasia Hypochondroplasia (HCH) [MIM:146000] (FGFR2,FGFR3)
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] (FGFR1,FGF9)
Ichthyosis Ichthyosis annular epidermolytic (AEI) [MIM:607602] (KRT1,KRT10)
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT16,KRT2), (KRT2,KRT25)
Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] (ABCA1,ABCA12)
Immunodeficiency 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)
Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) [MIM:123150] (FGF10,FGFR2), (FGFR1,FGF9)
Jervell and Lange-Nielsen syndrome Jervell and Lange-Nielsen syndrome 2 (JLNS2) [MIM:612347] (KCNE1,KCNQ1)
Juvenile polyposis Juvenile polyposis syndrome (JPS) [MIM:174900] (SMAD3,SMAD4)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050] (SMAD3,SMAD4)
Keratinocytic non-epidermolytic nevus Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (FGFR3,FGF9)
Keratosis, seborrheic (KERSEB) [MIM:182000] Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3R1,PIK3CA), (FGFR2,FGFR3), (FGFR3,FGF9)
Knuckle pads, leukonychia, and sensorineural deafness Knuckle pads, leukonychia, and sensorineural deafness (KPLD) [MIM:149200] (GJB2,GJA8), (GJB1,GJB2)
Lacrimo-auriculo-dento-digital syndrome Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] (FGF10,FGFR2), (FGFR2,FGFR3)
Laron syndrome Laron syndrome (LARS) [MIM:262500] (GH1,GHR)
Leber hereditary optic neuropathy (LHON) [MIM:535000] Leber hereditary optic neuropathy (LHON) [MIM:535000] (MT-ND4L,MT-ND6), (MT-CO1,MT-CO3)
Leber optic neuropathy Leber hereditary optic neuropathy with dystonia (LDYT) [MIM:500001] (MT-ND3,MT-ND6)
Left ventricular non-compaction Left ventricular non-compaction 9 (LVNC9) [MIM:611878] (TPM1,TNNT2)
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] (MT-ND3,MT-ND6), (POLG,POLG2), (MT-ND4L,MT-ND6)
Leopard syndrome LEOPARD syndrome 2 (LPRD2) [MIM:611554] (RAF1,YWHAG)
Leprechaunism Leprechaunism (LEPRCH) [MIM:246200] (INS,INSR)
Leukemia Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (KRAS,NF1)
Leukodystrophy hypomyelinating Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] (POLR1C,POLR1D)
Leukodystrophy with vanishing white matter Leukodystrophy with vanishing white matter (VWM) [MIM:603896] (EIF2B3,EIF2B4), (EIF2B5,EIF2B4), (EIF2B2,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), (KRT6A,LMNA)
Lipodystrophy Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] (LMNA,LMNB2), (BANF1,LMNA)
Lipodystrophy, familial partial, 3 (FPLD3) [MIM:604367] (PPARG,NR2E3)
Partial acquired lipodystrophy (APLD) [MIM:608709] (LMNA,LMNB2)
Lipoprotein lipase deficiency Hyperlipoproteinemia 1 (HLPP1) [MIM:238600] (LPL,GPIHBP1)
Lissencephaly Lissencephaly 3 (LIS3) [MIM:611603] (MAPT,TUBA1A), (TUBB3,TUBA1A)
Loeys-Dietz syndrome Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] (SMAD3,SMAD4)
Long QT syndrome Long QT syndrome 1 (LQT1) [MIM:192500] (CALM1,KCNQ1), (KCNE1,KCNQ1), (CALM2,KCNQ1)
Long QT syndrome 14 (LQT14) [MIM:616247] (CALM1,SCN5A), (KCNQ2,CALM1), (CALM1,KCNQ1), (CALM1,FAS), (CALM1,MYLK), (KCNN4,CALM1)
Long QT syndrome 15 (LQT15) [MIM:616249] (CALM2,TNNI3), (CALM2,KCNQ1)
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)
Mandibuloacral dysplasia Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] (BANF1,LMNA)
Mandibulofacial dysostosis with alopecia Mandibulofacial dysostosis with alopecia (MFDA) [MIM:616367] (EDN1,EDNRA)
Maple syrup urine disease Maple syrup urine disease 1A (MSUD1A) [MIM:248600] (BCKDHA,BCKDHB)
Maple syrup urine disease 1B (MSUD1B) [MIM:248600] (BCKDHA,BCKDHB)
Maturity-onset diabetes of the young Maturity-onset diabetes of the young 10 (MODY10) [MIM:613370] (INS,INSR)
McCune-Albright syndrome McCune-Albright syndrome (MAS) [MIM:174800] (GNB1,GNAS)
Medullary thyroid carcinoma Medullary thyroid carcinoma (MTC) [MIM:155240] (RET,GDNF)
Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] (PIK3R1,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,CDKN2A)
Mental retardation Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNA11,GNB1), (GNB1,GNAS)
Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061] (TRIO,RAC1)
Mental retardation, autosomal dominant 47 (MRD47) [MIM:617635] (RAD21,STAG1)
Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] (TRIO,RAC1)
Metachromatic leukodystrophy Metachromatic leukodystrophy (MLD) [MIM:250100] (ARSA,SUMF1)
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 IV deficiency (MT-C4D) [MIM:220110] Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110] (MT-CO1,MT-CO3)
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,MT-ND1), (NDUFS8,NDUFS6), (NDUFS8,NDUFS2)
Mitochondrial complex I deficiency, nuclear type 6 (MC1DN6) [MIM:618228] (NDUFS8,NDUFS2)
Mitochondrial complex I deficiency, nuclear type 9 (MC1DN9) [MIM:618232] (NDUFS8,NDUFS6)
Mitochondrial complex II deficiency (MT-C2D) [MIM:252011] (SDHB,SDHA)
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-ND4L,MT-ND6), (MT-ND3,MT-ND6), (NDUFS8,MT-ND1)
Monilethrix Monilethrix (MNLIX) [MIM:158000] (KRT16,KRT81), (KRT86,KRT14), (KRT14,KRT81), (KRT86,KRT16), (KRT16,KRT83)
Muenke syndrome Muenke syndrome (MNKS) [MIM:602849] (FGFR3,FGF9)
Multiple neoplasia Multiple neoplasia 2A (MEN2A) [MIM:171400] (RET,GDNF)
Multiple sulfatase deficiency Multiple sulfatase deficiency (MSD) [MIM:272200] (ARSA,SUMF1)
Multiple synostoses syndrome Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] (GDF5,NOG)
Multiple synostoses syndrome 3 (SYNS3) [MIM:612961] (FGFR1,FGF9), (FGFR3,FGF9)
Myopathy 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] (GFAP,DES)
Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] (CRYAB,HSPB1), (CRYAA,CRYAB), (CRYAB,HSPB8)
Myopathy, myosin storage, autosomal dominant (MSMA) [MIM:608358] (MYH7,XRCC4)
Nemaline myopathy Nemaline myopathy 4 (NEM4) [MIM:609285] (TPM2,TPM1)
Nestor-Guillermo progeria syndrome Nestor-Guillermo progeria syndrome (NGPS) [MIM:614008] (BANF1,LMNA)
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities (NEDCFSA) [MIM:618505] (KDM6B,H3C1)
Neurodevelopmental disorder, X-linked, with craniofacial abnormalities (NEDXCF) [MIM:301022] (RAD21,STAG2)
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,GRIN2A)
Neurofibromatosis Neurofibromatosis 1 (NF1) [MIM:162200] (HRAS,NF1), (KRAS,NF1)
Neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] (HRAS,NF1), (KRAS,NF1)
Neuronopathy Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (CRYAB,HSPB8)
Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634] (CRYAB,HSPB1), (CRYAA,HSPB1)
Neuropathy 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 3 (NS3) [MIM:609942] (KRAS,NF1)
Noonan syndrome 4 (NS4) [MIM:610733] (HRAS,SOS1)
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1,YWHAG)
Noonan syndrome 7 (NS7) [MIM:613706] (BRAF,YWHAG)
Norrie disease Norrie disease (ND) [MIM:310600] (NDP,FZD4)
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,COL1A2), (COL1A1,GP6)
Osteogenesis imperfecta 3 (OI3) [MIM:259420] (COL1A1,COL1A2), (COL1A1,GP6)
Osteogenesis imperfecta 4 (OI4) [MIM:166220] (COL1A1,COL1A2)
Pachyonychia congenita Pachyonychia congenita 1 (PC1) [MIM:167200] (KRT16,KRT5), (KRT86,KRT16), (KRT16,KRT81), (KRT6A,KRT16), (KRT16,KRT3), (KRT16,KRT2), (KRT16,KRT4), (KRT16,KRT83)
Pachyonychia congenita 2 (PC2) [MIM:167210] (KRT6A,KRT17)
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A,KRT16), (KRT6A,KRT17), (KRT6A,LMNA)
Palmoplantar keratoderma Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] (GJB2,GJA8), (GJB1,GJB2)
Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760] (KRT2,KRT25), (KRT5,KRT25)
Parietal foramina Parietal foramina 1 (PFM1) [MIM:168500] (POU1F1,MSX2), (MSX2,PITX1)
Parkinson disease Parkinson disease 8 (PARK8) [MIM:607060] (PRKACA,LRRK2), (YWHAG,LRRK2)
Peroxisome biogenesis disorder Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539] (PEX1,PEX6)
Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862] (PEX1,PEX6)
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] (FGFR1,FGF9), (FGF10,FGFR2), (FGFR2,FGFR3)
Pheochromocytoma (PCC) [MIM:171300] Pheochromocytoma (PCC) [MIM:171300] (MYCN,MAX), (VHL,EPAS1), (SDHB,SDHA)
Pigmented adrenocortical disease Primary pigmented nodular adrenocortical disease 4 (PPNAD4) [MIM:615830] (PRKACA,LRRK2), (PRKACA,SIK3), (PRKAR1A,PRKACA)
Pitt-Hopkins syndrome Pitt-Hopkins syndrome (PTHS) [MIM:610954] (TCF4,TWIST2)
Pituitary hormone deficiency Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] (POU1F1,MSX2)
Pontocerebellar hypoplasia Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] (EXOSC9,EXOSC3)
Pontocerebellar hypoplasia 1D (PCH1D) [MIM:618065] (EXOSC9,EXOSC3)
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 2B (PHA2B) [MIM:614491] (WNK4,KLHL3)
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (WNK4,KLHL3)
Pseudohypoparathyroidism Albright hereditary osteodystrophy (AHO) [MIM:103580] (GNB1,GNAS)
Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] (GNB1,GNAS)
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] (INS,INSR)
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)
Scaphocephaly syndrome Familial scaphocephaly syndrome (FSPC) [MIM:609579] (FGFR2,FGFR3)
Schimmelpenning-Feuerstein-Mims syndrome Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200] (HRAS,NF1), (HRAS,SOS1)
Seizures Febrile seizures, familial, 8 (FEB8) [MIM:611277] (GABRG2,GABRB2), (GABRG2,GABRB3)
Seizures, benign familial infantile, 3 (BFIS3) [MIM:607745] (SCN2B,SCN2A)
Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] (KCNQ2,CALM1)
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] (POLG,POLG2)
Short QT syndrome Short QT syndrome 2 (SQT2) [MIM:609621] (KCNE1,KCNQ1)
Short QT syndrome 3 (SQT3) [MIM:609622] (KCNJ18,KCNJ2)
Short stature Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541] (MYH7,XRCC4)
Sick sinus syndrome Sick sinus syndrome 1 (SSS1) [MIM:608567] (CALM1,SCN5A)
Sitosterolemia Sitosterolemia (STSL) [MIM:210250] (ABCG8,ABCG5)
Spinocerebellar ataxia Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459] (POLG,POLG2)
Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia, Krakow type (SEMDK) [MIM:618162] (PRKACA,SIK3)
Symphalangism Symphalangism, proximal 1A (SYM1A) [MIM:185800] (GDF5,NOG)
Symphalangism, proximal 1B (SYM1B) [MIM:615298] (GDF5,NOG)
Tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (GDF5,NOG)
Temple-Baraitser syndrome Temple-Baraitser syndrome (TMBTS) [MIM:611816] (KCNH1,KCNB1)
Thanatophoric dysplasia Thanatophoric dysplasia 1 (TD1) [MIM:187600] (FGFR2,FGFR3), (FGFR3,FGF9)
Thanatophoric dysplasia 2 (TD2) [MIM:187601] (FGFR2,FGFR3)
Thrombophilia 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)
Treacher Collins syndrome Treacher Collins syndrome 2 (TCS2) [MIM:613717] (POLR1C,POLR1D)
Ventricular tachycardia Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916] (CALM1,KCNQ1), (CALM1,SCN5A), (KCNQ2,CALM1)
Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] (NDP,FZD4)
Vohwinkel syndrome Vohwinkel syndrome (VOWNKL) [MIM:124500] (GJB2,GJA8), (GJB1,GJB2)
Von Hippel-Lindau disease Von Hippel-Lindau disease (VHLD) [MIM:193300] (VHL,EPAS1)
Von Willebrand disease Pseudo-von Willebrand disease (VWDP) [MIM:177820] (VWF,GP1BA), (F2,GP1BA)
Von Willebrand disease 2 (VWD2) [MIM:613554] (VWF,GP1BA)
Weaver syndrome Weaver syndrome (WVS) [MIM:277590] (EED,EZH2)
White sponge nevus White sponge nevus 1 (WSN1) [MIM:193900] (KRT16,KRT4)
Xeroderma pigmentosum 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-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] (HMGCS2, HMGCS2) 1.919 0.0311 0.0311
All phenotypes (HMGCS2, HMGCS2) 1.919 0.0311 0.0621
Abetalipoproteinemia Abetalipoproteinemia (ABL) [MIM:200100] (P4HB, MTTP) 2.433 0.0144 0.0144
Acyl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] (ACADVL, ACADVL) 0.811 0.0223 0.0223
All phenotypes (ACADVL, ACADVL) 0.811 0.0223 0.0893
Adenomatous polyposis Familial adenomatous polyposis (FAP) [MIM:175100] (APC, DLG3) 4.852 0.0342 0.0398
Familial adenomatous polyposis (FAP) [MIM:175100] (APC, DLG1) 4.629 0.0398 0.0398
Familial adenomatous polyposis (FAP) [MIM:175100] (APC, SCRIB) 4.629 0.0398 0.0398
Adrenal hyperplasia ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080] (GNB1, GNAS) 2.570 0.0284 0.0567
All phenotypes (GNB1, GNAS) 2.570 0.0284 0.113
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] (ABCD3, ABCD1) 0.408 0.0201 0.0603
Agammaglobulinemia All phenotypes (MET, BTK) 0.581 0.0378 0.265
X-linked agammaglobulinemia (XLA) [MIM:300755] (MET, BTK) 0.581 0.0378 0.189
Alazami-Yuan syndrome Alazami-Yuan syndrome (ALYUS) [MIM:617126] (TAF6, TAF9) 2.549 0.0292 0.0584
Alzheimer disease All phenotypes (APP, PITRM1) 3.317 0.0166 0.0598
All phenotypes (APP, PSEN2) 2.906 8.61e-11 7.75e-10
All phenotypes (APP, LCN2) 2.786 0.0329 0.097
All phenotypes (IGKC, APP) 2.680 0.0377 0.097
All phenotypes (APP, PSEN1) 2.178 1.06e-18 1.91e-17
All phenotypes (APP, APP) 1.367 4.46e-6 2.68e-5
All phenotypes (NOTCH1, PSEN1) 0.762 0.00136 0.00614
Alzheimer disease 1 (AD1) [MIM:104300] (APP, PSEN1) 4.487 1.61e-14 1.61e-13
Alzheimer disease 1 (AD1) [MIM:104300] (APP, PSEN2) 4.191 1.5e-13 7.52e-13
Alzheimer disease 1 (AD1) [MIM:104300] (APP, PITRM1) 3.317 0.0166 0.0415
Alzheimer disease 1 (AD1) [MIM:104300] (APP, LCN2) 2.786 0.0329 0.0629
Alzheimer disease 1 (AD1) [MIM:104300] (IGKC, APP) 2.680 0.0377 0.0629
Alzheimer disease 1 (AD1) [MIM:104300] (APP, APP) 1.367 4.46e-6 1.49e-5
Alzheimer disease 3 (AD3) [MIM:607822] (APP, PSEN1) 0.900 0.000145 0.000725
Alzheimer disease 3 (AD3) [MIM:607822] (NOTCH1, PSEN1) 0.762 0.00136 0.00341
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 0.132
Amyloidosis 5 (AMYL5) [MIM:105120] (GSN, GSN) 2.963 0.0164 0.0164
Amyotrophic lateral sclerosis All phenotypes (SHC1, ERBB4) 5.705 0.0192 0.0815
All phenotypes (FUS, TNPO1) 3.598 1.01e-13 1.72e-12
All phenotypes (HNRNPA1, TNPO1) 3.182 0.0121 0.0688
All phenotypes (TARDBP, TARDBP) 1.160 9.63e-5 0.000819
Amyotrophic lateral sclerosis 10 (ALS10) [MIM:612069] (TARDBP, TARDBP) 1.160 9.63e-5 9.63e-5
Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515] (SHC1, ERBB4) 5.705 0.0192 0.0192
Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] (HNRNPA1, TNPO1) 3.182 0.0121 0.0121
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] (FUS, TNPO1) 3.598 1.01e-13 1.01e-13
Antithrombin III deficiency Antithrombin III deficiency (AT3D) [MIM:613118] (F9, SERPINC1) 1.000 0.0357 0.133
Aortic aneurysm Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] (CALM1, MYLK) 5.265 0.000676 0.000676
Apert syndrome Apert syndrome (APRS) [MIM:101200] (FGF4, FGFR2) 4.097 0.0002 0.00078
Apert syndrome (APRS) [MIM:101200] (FGF10, FGFR2) 3.945 0.000274 0.00078
Apert syndrome (APRS) [MIM:101200] (FGF5, FGFR2) 3.909 0.000295 0.00078
Apert syndrome (APRS) [MIM:101200] (FGF2, FGFR2) 3.775 0.00039 0.00078
Apert syndrome (APRS) [MIM:101200] (FGF3, FGFR2) 3.775 0.00039 0.00078
Apert syndrome (APRS) [MIM:101200] (FGFR2, FGF8) 3.512 0.000674 0.00112
Apert syndrome (APRS) [MIM:101200] (FGF7, FGFR2) 3.336 0.000971 0.00139
Apert syndrome (APRS) [MIM:101200] (FGF1, FGFR2) 3.057 0.00173 0.00217
Atrial septal defect All phenotypes (MYH6, MYL7) 4.779 0.0364 0.164
All phenotypes (SCN2B, SCN2A) 3.609 0.00672 0.0605
Atrial fibrillation, familial, 14 (ATFB14) [MIM:615378] (SCN2B, SCN2A) 3.609 0.00672 0.00672
Atrial septal defect 3 (ASD3) [MIM:614089] (MYH6, MYL7) 4.779 0.0364 0.0364
Autoimmune disease, multisystem, infantile-onset, All phenotypes (PIK3R1, STAT3) 3.725 0.00815 0.155
All phenotypes (STAT3, STAT2) 2.865 0.0257 0.234
Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (PIK3R1, STAT3) 3.725 0.00815 0.106
Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (STAT3, STAT2) 2.865 0.0257 0.167
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 PLCG2-associated Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM:614878] (ERBB2, PLCG2) 5.847 0.0174 0.0174
Bardet-Biedl syndrome All phenotypes (BBS1, BBS4) 1.245 0.0316 0.296
Basal cell nevus syndrome Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] (NRAS, HLA-A) 3.477 0.0103 0.0273
Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] (NRAS, GRB10) 2.892 0.0228 0.0273
Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] (NRAS, RAP1GDS1) 2.892 0.0228 0.0273
Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] (NRAS, RASA1) 2.214 0.01 0.0273
Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] (NRAS, RGL3) 1.829 0.0223 0.0273
Beta-ureidopropionase deficiency Beta-ureidopropionase deficiency (UPB1D) [MIM:613161] (UPB1, UPB1) 1.374 0.0465 0.0465
Bladder cancer Bladder cancer (BLC) [MIM:109800] (FGF1, FGFR3) 2.683 0.0342 0.094
Bleeding disorder All phenotypes (ITGA2B, FLNA) 7.104 5.28e-5 0.00037
All phenotypes (ITGB3, TLN1) 5.114 0.0289 0.0674
All phenotypes (P2RY12, P2RY12) 2.464 0.0403 0.0695
All phenotypes (RAP1B, RASGRP2) 2.362 0.0497 0.0695
All phenotypes (ITGB3, ITGA2B) 1.885 0.0198 0.0674
Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] (ITGA2B, FLNA) 7.104 5.28e-5 0.000159
Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] (ITGB3, TLN1) 5.114 0.0289 0.0289
Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] (ITGB3, ITGA2B) 1.885 0.0198 0.0289
Bleeding disorder, platelet-type 18 (BDPLT18) [MIM:615888] (RAP1B, RASGRP2) 2.362 0.0497 0.0497
Bleeding disorder, platelet-type 8 (BDPLT8) [MIM:609821] (P2RY12, P2RY12) 2.464 0.0403 0.0403
Blepharocheilodontic syndrome Blepharocheilodontic syndrome 1 (BCDS1) [MIM:119580] (CDH1, CDH1) 3.780 0.0053 0.0053
Bone mineral density variability High bone mass trait (HBM) [MIM:601884] (LRP5, SOST) 5.256 0.026 0.026
Brachycephaly, trichomegaly, and developmental delay Immunodeficiency, developmental delay, and hypohomocysteinemia (IMDDHH) [MIM:617744] (KEAP1, NFE2L2) 2.700 0.00561 0.0112
Brachydactyly All phenotypes (IHH, CDON) 2.935 0.0235 0.0566
All phenotypes (IHH, BOC) 2.865 0.0257 0.0566
All phenotypes (BMP2, NOG) 1.972 0.00934 0.042
All phenotypes (BMP7, NOG) 1.892 0.0115 0.042
All phenotypes (GDF5, NOG) 1.518 0.00305 0.0336
Brachydactyly A1 (BDA1) [MIM:112500] (IHH, CDON) 2.935 0.0235 0.0257
Brachydactyly A1 (BDA1) [MIM:112500] (IHH, BOC) 2.865 0.0257 0.0257
Brachydactyly B2 (BDB2) [MIM:611377] (BMP2, NOG) 1.972 0.00934 0.0153
Brachydactyly B2 (BDB2) [MIM:611377] (GDF5, NOG) 1.972 0.00934 0.0153
Brachydactyly B2 (BDB2) [MIM:611377] (BMP7, NOG) 1.892 0.0115 0.0153
Breast cancer All phenotypes (BRCA2, PALB2) 4.771 1.02e-5 0.000183
All phenotypes (BRCA1, ATRIP) 3.138 0.00384 0.023
All phenotypes (BRCA1, BRAT1) 3.138 0.00384 0.023
All phenotypes (BRCA1, ACACA) 2.264 0.0204 0.092
All phenotypes (BRCA1, ABRAXAS1) 1.865 0.0422 0.138
All phenotypes (BRCA1, BRIP1) 1.816 0.046 0.138
Breast cancer (BC) [MIM:114480] (BRCA2, PALB2) 4.771 1.02e-5 0.000173
Breast cancer (BC) [MIM:114480] (BRCA1, ATRIP) 3.138 0.00384 0.0217
Breast cancer (BC) [MIM:114480] (BRCA1, BRAT1) 3.138 0.00384 0.0217
Breast cancer (BC) [MIM:114480] (BRCA1, ACACA) 2.264 0.0204 0.0869
Breast cancer (BC) [MIM:114480] (BRCA1, ABRAXAS1) 1.865 0.0422 0.13
Breast cancer (BC) [MIM:114480] (BRCA1, BRIP1) 1.816 0.046 0.13
Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] (BRCA1, BARD1) 3.023 0.0151 0.0151
Camurati-Engelmann disease Camurati-Engelmann disease (CAEND) [MIM:131300] (TGFB1, TGFB1) 0.850 0.0161 0.0161
Cardiofaciocutaneous syndrome All phenotypes (BUB1, MAP2K1) 2.895 0.0226 0.32
Cardiofaciocutaneous syndrome 3 (CFC3) [MIM:615279] (BUB1, MAP2K1) 2.895 0.0226 0.0226
Cardiomyopathy All phenotypes (BAG3, HSPA8) 2.084 0.0192 0.226
All phenotypes (MYL3, MYH7) 1.475 1.15e-9 5.39e-8
All phenotypes (TPM1, TNNI3) 1.460 0.00232 0.0364
All phenotypes (CFL1, ACTC1) 1.421 0.0493 0.33
All phenotypes (LMNA, LMNB2) 0.742 0.0258 0.24
All phenotypes (LMNA, LMNA) 0.727 0.0011 0.026
All phenotypes (LMNA, LMNB1) 0.712 0.0306 0.24
Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158] (ACTN2, ACTB) 4.552 0.0426 0.0426
Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] (LMNA, LMNB2) 0.738 0.0325 0.0636
Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] (LMNA, LMNB1) 0.707 0.0382 0.0636
Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] (LMNA, LMNA) 0.693 0.00308 0.0154
Cardiomyopathy, dilated 1D (CMD1D) [MIM:601494] (TPM1, TNNT2) 2.420 0.0427 0.0427
Cardiomyopathy, dilated 1EE (CMD1EE) [MIM:613252] (MYH6, MYL7) 4.779 0.0364 0.0364
Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] (BAG3, HSPA8) 2.084 0.0192 0.0192
Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424] (CAPN1, ACTC1) 5.229 0.0265 0.0265
Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] (ACTC1, DBN1) 2.644 0.0381 0.0422
Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] (ACTC1, PLEC) 1.850 0.0422 0.0422
Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] (CFL1, ACTC1) 1.743 0.021 0.0422
Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600] (MYL3, MYH7) 2.231 3.25e-15 1.62e-14
Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690] (TPM1, TNNI3) 1.663 0.00546 0.0218
Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] (TPM1, TNNI3) 1.953 0.00982 0.0393
Cerebral amyloid angiopathy Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, PITRM1) 5.602 1.45e-5 0.000116
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, LCN2) 5.072 4.36e-5 0.000116
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (IGHG1, APP) 5.072 4.36e-5 0.000116
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, IDE) 4.524 0.000135 0.00027
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (IGKC, APP) 4.380 0.00335 0.00447
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, PSEN2) 4.017 0.000384 0.000614
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, PSEN1) 3.728 0.00812 0.00928
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, APP) 1.367 0.0226 0.0226
Cerebrocostomandibular syndrome Cerebrocostomandibular syndrome (CCMS) [MIM:117650] (SNRPB, SF3A3) 2.467 0.00107 0.00107
Charcot-Marie-Tooth disease All phenotypes (CRYAB, HSPB1) 1.965 0.00737 0.155
All phenotypes (GJB1, GJB2) 0.347 0.0269 0.233
Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595] (CRYAB, HSPB1) 1.965 0.00737 0.0295
Charcot-Marie-Tooth disease, X-linked dominant, 1 (CMTX1) [MIM:302800] (GJB1, GJB2) 0.347 0.0269 0.0269
Cherubism Cherubism (CRBM) [MIM:118400] (SH3BP2, TNKS2) 3.492 4.38e-8 4.38e-8
Coagulation factor deficiency All phenotypes (F2, F5) 3.075 0.0221 0.177
All phenotypes (F2, F2R) 2.001 0.00399 0.0957
All phenotypes (F2, SERPINC1) 1.982 0.0126 0.152
All phenotypes (F2, SERPIND1) 1.812 0.0464 0.233
All phenotypes (F2, GP1BA) 1.786 0.0486 0.233
Factor II deficiency (FA2D) [MIM:613679] (F2, F5) 3.075 0.0221 0.111
Factor II deficiency (FA2D) [MIM:613679] (F2, F2R) 2.001 0.00399 0.0598
Factor II deficiency (FA2D) [MIM:613679] (F2, SERPINC1) 1.982 0.0126 0.0948
Factor II deficiency (FA2D) [MIM:613679] (F2, SERPIND1) 1.812 0.0464 0.146
Factor II deficiency (FA2D) [MIM:613679] (F2, GP1BA) 1.786 0.0486 0.146
Cohen-Gibson syndrome Cohen-Gibson syndrome (COGIS) [MIM:617561] (EED, EZH1) 1.269 0.0211 0.106
Cohen-Gibson syndrome (COGIS) [MIM:617561] (EED, EZH2) 1.034 0.0442 0.111
Colorectal cancer All phenotypes (CTNNB1, FBXW11) 5.860 0.0172 0.0959
All phenotypes (HLA-A, CTNNB1) 5.072 0.0297 0.145
All phenotypes (BRAF, YWHAZ) 3.274 0.00217 0.0271
All phenotypes (BRAF, YWHAB) 3.232 0.00236 0.0271
All phenotypes (BRAF, YWHAG) 3.232 0.00236 0.0271
All phenotypes (BRAF, YWHAQ) 3.152 0.00277 0.0271
All phenotypes (BRAF, MAP2K1) 2.838 0.0052 0.0405
All phenotypes (BRAF, MAP2K2) 2.606 0.00821 0.0534
All phenotypes (MLH1, PMS2) 1.002 0.0462 0.2
Colorectal cancer (CRC) [MIM:114500] (CTNNB1, FBXW11) 5.860 0.0172 0.0443
Colorectal cancer (CRC) [MIM:114500] (HLA-A, CTNNB1) 5.072 0.0297 0.0669
Colorectal cancer (CRC) [MIM:114500] (BRAF, YWHAZ) 3.274 0.00217 0.0125
Colorectal cancer (CRC) [MIM:114500] (BRAF, YWHAB) 3.232 0.00236 0.0125
Colorectal cancer (CRC) [MIM:114500] (BRAF, YWHAG) 3.232 0.00236 0.0125
Colorectal cancer (CRC) [MIM:114500] (BRAF, YWHAQ) 3.152 0.00277 0.0125
Colorectal cancer (CRC) [MIM:114500] (BRAF, MAP2K1) 2.838 0.0052 0.0187
Colorectal cancer (CRC) [MIM:114500] (BRAF, MAP2K2) 2.606 0.00821 0.0246
Cone-rod dystrophy All phenotypes (CRX, RAX2) 2.322 0.04 0.16
All phenotypes (CRX, RHOXF2) 2.322 0.04 0.16
Cone-rod dystrophy 2 (CORD2) [MIM:120970] (CRX, RAX2) 2.322 0.04 0.06
Cone-rod dystrophy 2 (CORD2) [MIM:120970] (CRX, RHOXF2) 2.322 0.04 0.06
Congenital heart defects All phenotypes (HERC2, CDC42) 4.992 0.0314 0.272
Takenouchi-Kosaki syndrome (TKS) [MIM:616737] (HERC2, CDC42) 4.992 0.0314 0.271
Cortical dysplasia complex with other brain malformations All phenotypes (TUBB3, TUBA1A) 1.779 0.0349 0.21
Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039] (TUBB3, TUBA1A) 1.779 0.0349 0.0699
Corticosterone methyloxidase deficiency All phenotypes (CYP11B2, CYP11B2) 1.877 0.0366 0.0366
Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600] (CYP11B2, CYP11B2) 2.140 0.0204 0.0204
Craniosynostosis All phenotypes (MSX2, ZFHX3) 2.628 0.0262 0.506
Craniosynostosis 2 (CRS2) [MIM:604757] (MSX2, ZFHX3) 2.628 0.0262 0.0262
Creutzfeldt-Jakob disease Creutzfeldt-Jakob disease (CJD) [MIM:123400] (PRNP, PRNP) 1.297 0.00185 0.00185
Crigler-Najjar syndrome All phenotypes (UGT1A1, UGT1A1) 1.800 9.36e-5 0.00032
All phenotypes (UGT1A1, UGT1A8) 1.800 9.36e-5 0.00032
All phenotypes (UGT1A1, UGT1A7) 1.793 0.000207 0.000415
All phenotypes (UGT1A1, UGT1A10) 1.762 0.00012 0.00032
All phenotypes (UGT1A1, UGT1A3) 1.674 0.000423 0.000484
All phenotypes (UGT1A1, UGT1A4) 1.674 0.000423 0.000484
All phenotypes (UGT1A6, UGT1A1) 1.674 0.000423 0.000484
All phenotypes (UGT1A9, UGT1A1) 1.655 0.000911 0.000911
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A1) 2.144 0.000221 0.000706
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A8) 2.144 0.000221 0.000706
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A10) 2.107 0.000265 0.000706
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A7) 2.070 0.000849 0.00158
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A3) 1.952 0.00138 0.00158
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A4) 1.952 0.00138 0.00158
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A6, UGT1A1) 1.952 0.00138 0.00158
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A9, UGT1A1) 1.848 0.00477 0.00477
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A7) 1.939 0.00155 0.00331
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A1) 1.821 0.0025 0.00331
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A3) 1.821 0.0025 0.00331
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A4) 1.821 0.0025 0.00331
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A8) 1.821 0.0025 0.00331
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A6, UGT1A1) 1.821 0.0025 0.00331
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A10) 1.783 0.0029 0.00331
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A9, UGT1A1) 1.717 0.00774 0.00774
Cutis laxa All phenotypes (PYCR1, PYCR1) 0.810 0.0459 0.183
Deafness All phenotypes (AIFM1, AIFM1) 3.804 0.00732 0.161
Deafness, X-linked, 5 (DFNX5) [MIM:300614] (AIFM1, AIFM1) 3.804 0.00732 0.00732
Dehydrated hereditary stomatocytosis 2 Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689] (KCNN4, KCNN4) 1.523 0.0421 0.126
Dementia All phenotypes (MAPT, MAPT) 0.731 0.0208 0.228
Frontotemporal dementia (FTD) [MIM:600274] (MAPT, MAPT) 0.731 0.0208 0.104
Diabetes mellitus All phenotypes (INSR, GRB10) 2.342 0.0205 0.0718
All phenotypes (ABCC8, KCNJ11) 2.215 1.92e-5 0.000403
All phenotypes (INS, INS) 0.737 0.00135 0.0128
All phenotypes (KCNJ11, KCNJ11) 0.674 0.00183 0.0128
All phenotypes (INS, INSR) 0.671 0.0132 0.0553
All phenotypes (INS, IDE) 0.664 0.00692 0.0364
Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] (INSR, SH2B1) 5.418 0.0232 0.0463
Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] (SH2B2, INSR) 5.155 0.0278 0.0463
Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] (INSR, GRB10) 4.696 0.00195 0.00975
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (ABCC8, KCNJ11) 2.221 0.000105 0.00126
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (INS, INSR) 0.764 0.00466 0.014
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (INS, IDE) 0.758 0.00178 0.00905
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (INS, INS) 0.731 0.00226 0.00905
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (KCNJ11, KCNJ11) 0.657 0.00592 0.0142
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 0.0752
Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] (FGA, KLK6) 5.541 0.0215 0.0752
Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] (F2, FGA) 4.389 0.0477 0.111
Dystonia All phenotypes (SPR, SPR) 2.300 0.0412 0.33
Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716] (SPR, SPR) 2.300 0.0412 0.0412
Ectrodactyly-ectodermal dysplasia Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] (PPP1R13L, TP63) 3.839 9.27e-14 1.85e-13
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] (TP53BP2, TP63) 3.714 2.81e-13 2.81e-13
Ehlers-Danlos syndrome All phenotypes (COL3A1, COL3A1) 1.583 1.63e-9 3.26e-9
Ehlers-Danlos syndrome, vascular type (EDSVASC) [MIM:130050] (COL3A1, COL3A1) 1.653 3.5e-10 7.01e-10
Elliptocytosis All phenotypes (SPTA1, SPTB) 4.614 9.66e-19 2.9e-18
All phenotypes (SPTA1, SPTBN1) 3.710 4.03e-11 6.05e-11
Elliptocytosis 2 (EL2) [MIM:130600] (SPTA1, SPTB) 5.089 1.31e-15 2.61e-15
Elliptocytosis 2 (EL2) [MIM:130600] (SPTA1, SPTBN1) 3.710 4.03e-11 4.03e-11
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
Epidermolysis bullosa All phenotypes (ITGB4, DST) 2.475 0.0488 0.0748
All phenotypes (KRT14, KRT80) 1.329 0.00211 0.00696
All phenotypes (KRT14, KRT81) 1.329 0.00211 0.00696
All phenotypes (KRT86, KRT14) 1.329 0.00211 0.00696
All phenotypes (KRT14, KRT3) 1.303 0.00242 0.00696
All phenotypes (KRT14, KRT6C) 1.303 0.00242 0.00696
All phenotypes (KRT14, KRT79) 1.303 0.00242 0.00696
All phenotypes (KRT14, PRPH) 1.303 0.00242 0.00696
All phenotypes (KRT14, KRT72) 1.277 0.00278 0.00696
All phenotypes (KRT14, KRT78) 1.277 0.00278 0.00696
All phenotypes (KRT14, KRT5) 1.230 0.000243 0.00608
All phenotypes (KRT5, KRT24) 1.200 0.0137 0.0312
All phenotypes (KRT38, KRT5) 1.079 0.0399 0.0748
All phenotypes (KRT16, KRT5) 1.053 0.0434 0.0748
All phenotypes (KRT5, KRT15) 1.053 0.0434 0.0748
All phenotypes (KRT5, KRT35) 1.027 0.047 0.0748
Epidermolysis bullosa letalis, with pyloric atresia (EB-PA) [MIM:226730] (ITGB4, DST) 2.475 0.0488 0.101
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT80) 1.597 0.00734 0.0191
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT81) 1.597 0.00734 0.0191
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT86, KRT14) 1.597 0.00734 0.0191
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT5) 1.586 0.000668 0.0147
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT3) 1.570 0.008 0.0191
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT6C) 1.570 0.008 0.0191
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT79) 1.570 0.008 0.0191
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, PRPH) 1.570 0.008 0.0191
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT72) 1.544 0.0087 0.0191
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT78) 1.544 0.0087 0.0191
Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT1, KRT33B) 1.859 0.00159 0.0052
Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT37, KRT1) 1.835 0.00173 0.0052
Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT1, KRT10) 0.766 0.0143 0.0287
Epilepsy All phenotypes (SNAP23, STX1B) 2.823 0.02 0.204
All phenotypes (GABRG2, GABRB3) 1.925 0.0183 0.204
All phenotypes (SCN1A, FGF12) 1.643 0.0245 0.204
All phenotypes (CHRNB2, CHRNA4) 1.096 0.0479 0.299
Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403] (SCN1A, FGF12) 2.036 0.0211 0.0211
Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] (SNAP23, STX1B) 2.823 0.02 0.0799
Epileptic encephalopathy All phenotypes (USP8, YWHAG) 2.790 0.0209 0.297
All phenotypes (YWHAG, BAIAP2) 2.364 0.0377 0.309
All phenotypes (KCNB1, KCNG2) 2.159 0.00578 0.297
All phenotypes (CDKL5, PRKG2) 1.261 0.0285 0.297
All phenotypes (HCN1, HCN1) 1.126 0.0157 0.297
All phenotypes (GABRA1, GABRB3) 0.790 0.0275 0.297
Epileptic encephalopathy, early infantile, 24 (EIEE24) [MIM:615871] (HCN1, HCN1) 1.126 0.0157 0.0315
Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056] (KCNB1, KCNG2) 2.159 0.00578 0.0463
Epileptic encephalopathy, early infantile, 2 (EIEE2) [MIM:300672] (CDKL5, PRKG2) 1.261 0.0285 0.0285
Epileptic encephalopathy, early infantile, 56 (EIEE56) [MIM:617665] (USP8, YWHAG) 2.790 0.0209 0.226
Epileptic encephalopathy, early infantile, 56 (EIEE56) [MIM:617665] (YWHAG, BAIAP2) 2.364 0.0377 0.226
Epileptic encephalopathy, early infantile, 74 (EIEE74) [MIM:618396] (GABRG2, GABRB3) 1.340 0.0451 0.135
Erythrocytosis All phenotypes (VHL, EPAS1) 4.233 2.24e-5 0.000179
All phenotypes (EGLN2, EPAS1) 3.818 0.00787 0.021
All phenotypes (EPAS1, EGLN1) 3.310 0.00263 0.0105
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (VHL, EPAS1) 4.233 2.24e-5 8.96e-5
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EGLN2, EPAS1) 3.818 0.00787 0.0126
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EPAS1, EGLN1) 3.680 0.00946 0.0126
Exudative vitreoretinopathy All phenotypes (NDP, FZD4) 1.201 0.00495 0.00989
Fabry disease Fabry disease (FD) [MIM:301500] (GLA, GLA) 0.700 0.00953 0.00953
Faciocutaneoskeletal syndrome Costello syndrome (CSTLO) [MIM:218040] (HRAS, RASA1) 1.833 9.53e-5 0.00061
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RASGRF1) 1.645 0.000278 0.00061
Costello syndrome (CSTLO) [MIM:218040] (HRAS, NF1) 1.610 0.000339 0.00061
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RIN1) 1.596 0.00315 0.00436
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RASGRP4) 1.373 0.00339 0.00436
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RGL1) 1.278 0.0053 0.00596
Costello syndrome (CSTLO) [MIM:218040] (HRAS, SOS2) 1.226 0.000257 0.00061
Costello syndrome (CSTLO) [MIM:218040] (RGL2, HRAS) 1.218 0.00701 0.00701
Costello syndrome (CSTLO) [MIM:218040] (HRAS, SOS1) 0.975 0.000301 0.00061
Familial advanced sleep-phase syndrome Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224] (CSNK1D, CCNA1) 3.342 0.00973 0.00973
Fanconi anemia All phenotypes (BRCA1, ATRIP) 4.723 0.0379 0.151
All phenotypes (BRCA1, BRAT1) 4.723 0.0379 0.151
All phenotypes (BRCA2, SEM1) 3.034 0.0149 0.151
Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] (BRCA2, SEM1) 3.034 0.0149 0.0149
Fanconi anemia, complementation group S (FANCS) [MIM:617883] (BRCA1, ATRIP) 4.723 0.0379 0.0946
Fanconi anemia, complementation group S (FANCS) [MIM:617883] (BRCA1, BRAT1) 4.723 0.0379 0.0946
Fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] (FKBP1B, ACVR1) 2.629 0.00989 0.0396
Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] (FKBP1A, ACVR1) 2.093 0.0271 0.0542
Fibrosis of extraocular muscles All phenotypes (KIF21A, KIF21A) 3.039 4.85e-7 9.7e-7
Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] (KIF21A, KIF21A) 3.039 4.85e-7 4.85e-7
Fibrosis of extraocular muscles, congenital, 3A (CFEOM3A) [MIM:600638] (MAPT, TUBB3) 3.578 0.0113 0.0113
Focal segmental glomerulosclerosis All phenotypes (ACTN4, IQGAP1) 5.340 4.29e-5 0.000215
Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] (ACTN4, IQGAP1) 5.340 4.29e-5 0.000172
Frontometaphyseal dysplasia Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137] (MAP3K7, TNIK) 2.262 0.00906 0.0362
Galactosemia All phenotypes (GALT, GALT) 0.330 0.0306 0.0613
Galactosemia (GALCT) [MIM:230400] (GALT, GALT) 0.330 0.0306 0.0306
Gastric cancer All phenotypes (KRAS, SOS1) 2.113 0.000153 0.000763
All phenotypes (KRAS, NF1) 1.867 0.0122 0.0306
Gastric cancer (GASC) [MIM:613659] (KRAS, SOS1) 2.113 0.000153 0.000458
Gastric cancer (GASC) [MIM:613659] (KRAS, NF1) 1.867 0.0122 0.0183
Glanzmann thrombasthenia Glanzmann thrombasthenia (GT) [MIM:273800] (FGG, ITGB3) 3.546 0.000365 0.00292
Glanzmann thrombasthenia (GT) [MIM:273800] (FN1, ITGB3) 2.131 0.0125 0.0498
Glioma Glioma (GLM) [MIM:137800] (H3-3A, SETD2) 2.791 0.026 0.199
Glutaric aciduria All phenotypes (ETFA, ETFB) 1.299 0.0413 0.165
Growth hormone deficiency All phenotypes (HTR2C, GHSR) 2.825 0.0199 0.139
Growth hormone deficiency, isolated partial (GHDP) [MIM:615925] (HTR2C, GHSR) 2.825 0.0199 0.0796
Growth hormone insensitivity All phenotypes (JAK1, STAT5B) 4.715 0.0377 0.113
Growth hormone insensitivity with immunodeficiency (GHII) [MIM:245590] (JAK1, STAT5B) 4.715 0.0377 0.0377
Growth retardation Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] (CSNK2A1, CDK11A) 2.597 0.00692 0.0277
Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] (CSNK2B, CSNK2A1) 2.535 0.0397 0.0793
Hemolytic anemia All phenotypes (PKLR, PKLR) 0.423 0.0362 0.145
Pyruvate kinase deficiency of red cells (PKRD) [MIM:266200] (PKLR, PKLR) 0.423 0.0362 0.0362
Hemolytic uremic syndrome All phenotypes (C3, CFHR4) 3.476 0.000295 0.00105
All phenotypes (C3, CR2) 3.452 0.000314 0.00105
All phenotypes (C3, CD46) 2.435 0.0165 0.0412
All phenotypes (C3, CFH) 1.590 0.000105 0.00105
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3, CFHR4) 3.476 0.000295 0.000629
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3, CR2) 3.452 0.000314 0.000629
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3, CD46) 3.001 0.0246 0.0369
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3, CFH) 2.551 0.000168 0.000629
Hemophilia All phenotypes (F9, SERPINC1) 0.641 0.0302 0.121
Hemophilia B (HEMB) [MIM:306900] (F9, SERPINC1) 0.641 0.0302 0.0604
Hepatocellular carcinoma Hepatocellular carcinoma (HCC) [MIM:114550] (MET, GRB14) 4.519 0.00249 0.0286
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, GRB7) 4.519 0.00249 0.0286
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, KDR) 3.426 0.0111 0.0848
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, BTK) 2.872 0.0234 0.134
High density lipoprotein deficiency All phenotypes (ABCA1, ABCA12) 3.130 0.0219 0.0219
High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] (ABCA1, ABCA12) 3.403 0.0153 0.0153
Hirschsprung disease All phenotypes (RET, GRB10) 1.793 0.00394 0.063
All phenotypes (RET, RET) 0.876 0.0338 0.27
Hirschsprung disease 1 (HSCR1) [MIM:142623] (RET, GRB10) 1.793 0.00394 0.059
Hirschsprung disease 1 (HSCR1) [MIM:142623] (RET, RET) 0.876 0.0338 0.253
Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] (BANF1, LMNA) 3.524 0.0119 0.0477
Hypercholesterolemia All phenotypes (, PCSK9) 2.633 0.0102 0.0714
All phenotypes (LDLR, APOH) 1.520 0.0312 0.0894
All phenotypes (LDLR, PCSK9) 1.160 0.0383 0.0894
Familial hypercholesterolemia (FH) [MIM:143890] (LDLR, APOH) 1.520 0.0312 0.187
Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] (LDLR, PCSK9) 2.922 0.027 0.027
Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] (, PCSK9) 2.633 0.0102 0.0204
Hyperekplexia Hyperekplexia 1 (HKPX1) [MIM:149400] (GLRA1, GLRA1) 1.322 6.22e-5 6.22e-5
Hyperimmunoglobulin E recurrent infection syndrome Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060] (STAT3, STAT3) 2.399 0.0174 0.113
Hyper-IgE recurrent infection syndrome 1, autosomal dominant (HIES1) [MIM:147060] (STAT3, STAT2) 2.380 0.0018 0.0234
Hyperinsulinemic hypoglycemia All phenotypes (INSR, GRB7) 5.371 0.0242 0.0663
All phenotypes (INSR, GRB10) 5.281 0.0257 0.0663
All phenotypes (INSR, IRS1) 5.281 0.0257 0.0663
All phenotypes (INSR, GRB14) 5.238 0.0265 0.0663
Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] (INSR, GRB7) 5.371 0.0242 0.0265
Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] (INSR, GRB10) 5.281 0.0257 0.0265
Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] (INSR, IRS1) 5.281 0.0257 0.0265
Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] (INSR, GRB14) 5.238 0.0265 0.0265
Leucine-induced hypoglycemia (LIH) [MIM:240800] (ABCC8, KCNJ11) 5.123 0.0287 0.0287
Hyperlipoproteinemia All phenotypes (APOE, BCL2) 2.576 1.82e-5 5.45e-5
Hyperlipoproteinemia 3 (HLPP3) [MIM:617347] (APOE, BCL2) 2.576 1.82e-5 3.63e-5
Hypocalcemia All phenotypes (KCNJ5, KCNJ15) 1.092 0.0227 0.0454
All phenotypes (CASR, CASR) 1.057 0.00374 0.015
Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677] (KCNJ5, KCNJ15) 1.092 0.0227 0.0227
Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] (CASR, CASR) 1.057 0.00374 0.00374
Hypocalciuric hypercalcemia Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] (CASR, CASR) 0.530 0.0304 0.0304
Hypogonadotropic hypogonadism All phenotypes (FGF19, FGFR1) 1.217 0.0435 0.45
Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] (FGF19, FGFR1) 1.217 0.0435 0.394
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
Immunodeficiency All phenotypes (UBC, IKBKG) 2.894 0.0227 0.454
Immunodeficiency 31A (IMD31A) [MIM:614892] (STAT1, STAT1) 1.734 0.044 0.176
Immunodeficiency 33 (IMD33) [MIM:300636] (UBC, IKBKG) 3.479 0.00805 0.0241
Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] (DNMT3B, DNMT3A) 2.046 0.0331 0.0993
Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) [MIM:304790] (FOXP3, FOXP3) 0.830 0.0423 0.0847
Inclusion body myopathy Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] (VCP, VCP) 0.749 0.0397 0.119
Incontinentia pigmenti Incontinentia pigmenti (IP) [MIM:308300] (UBC, IKBKG) 2.256 0.0192 0.0958
Intellectual developmental disorder with dysmorphic facies and ptosis All phenotypes (CDK11B, PAK1) 3.072 0.0141 0.127
Intellectual developmental disorder with macrocephaly, seizures, and speech delay (IDDMSSD) [MIM:618158] (CDK11B, PAK1) 3.072 0.0141 0.0566
Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) [MIM:123150] (FGF19, FGFR1) 4.440 0.0461 0.164
Jackson-Weiss syndrome (JWS) [MIM:123150] (FGF1, FGFR1) 4.347 0.0492 0.164
Juvenile polyposis All phenotypes (BMPR1A, BMPR1A) 2.944 0.0259 0.189
Juvenile polyposis syndrome (JPS) [MIM:174900] (BMPR1A, BMPR1A) 2.944 0.0259 0.107
Keratinocytic non-epidermolytic nevus Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, GRB10) 2.892 0.0228 0.0683
Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, RAP1GDS1) 2.892 0.0228 0.0683
Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, RIN1) 2.339 0.00772 0.0683
Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, RASA1) 2.214 0.01 0.0683
Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, RGL3) 1.829 0.0223 0.0683
Keratitis-ichthyosis-deafness syndrome Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] (GJB2, GJA5) 1.785 0.0345 0.0441
Keratitis-ichthyosis-deafness syndrome (KID syndrome) [MIM:148210] (GJB2, GJB2) 1.126 0.0441 0.0441
Keratoendothelitis fugax hereditaria Keratoendothelitis fugax hereditaria (KEFH) [MIM:148200] (NLRP3, NLRP3) 4.363 0.0486 0.0486
Keratosis Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3CA, PIK3R3) 3.041 0.0148 0.0518
Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3R1, PIK3CA) 2.843 0.0194 0.0518
Keratosis, seborrheic (KERSEB) [MIM:182000] (FGFR3, FGFR3) 1.970 0.011 0.0518
Leber congenital amaurosis All phenotypes (DAPK1, TUBB4B) 4.752 0.00138 0.00413
Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879] (DAPK1, TUBB4B) 4.752 0.00138 0.00138
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
Leopard syndrome All phenotypes (ERBB2, PTPN11) 2.785 0.0018 0.0144
LEOPARD syndrome 1 (LPRD1) [MIM:151100] (ERBB2, PTPN11) 2.785 0.0018 0.0018
Leukemia Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (MET, PTPN11) 4.601 5.4e-8 5.4e-7
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (PTPN11, GRB7) 2.601 0.000741 0.00371
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (KRAS, NF1) 2.452 0.00611 0.0153
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (ERBB2, PTPN11) 2.232 0.0227 0.0378
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (NRAS, RASA1) 2.214 0.0465 0.0664
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (KRAS, SOS1) 2.113 0.0124 0.0247
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (GRB2, PTPN11) 2.090 0.00368 0.0123
Leukodystrophy with vanishing white matter Leukodystrophy with vanishing white matter (VWM) [MIM:603896] (EIF2B5, EIF2B4) 2.268 0.00925 0.0278
Leukodystrophy with vanishing white matter (VWM) [MIM:603896] (EIF2B5, EIF2B1) 2.141 0.0299 0.0598
Leukodystrophy with vanishing white matter (VWM) [MIM:603896] (EIF2B2, EIF2B5) 1.861 0.000497 0.00298
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 Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53BP2) 1.644 0.000435 0.00479
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, BCL2L1) 1.006 0.0156 0.0564
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, BCL2) 0.988 0.0222 0.0564
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53BP1) 0.866 0.0198 0.0564
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53) 0.385 0.0256 0.0564
Limb-girdle muscular dystrophy All phenotypes (SMCHD1, SMCHD1) 1.626 0.0147 0.103
Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901] (SMCHD1, SMCHD1) 1.626 0.0147 0.0147
Lissencephaly All phenotypes (MAPT, TUBA1A) 3.739 7.98e-7 5.58e-6
All phenotypes (TUBB, TUBA1A) 1.843 0.0165 0.0578
Lissencephaly 3 (LIS3) [MIM:611603] (MAPT, TUBA1A) 3.739 7.98e-7 2.39e-6
Lissencephaly 3 (LIS3) [MIM:611603] (TUBB, TUBA1A) 1.843 0.0165 0.0248
Lissencephaly with microcephaly Lissencephaly 6, with microcephaly (LIS6) [MIM:616212] (KATNA1, KATNB1) 2.195 0.0477 0.0555
Loeys-Dietz syndrome All phenotypes (SMAD3, SMAD4) 1.953 0.0291 0.204
Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] (SMAD3, SMAD4) 1.953 0.0291 0.0582
Long QT syndrome All phenotypes (KCNJ18, KCNJ2) 1.093 0.000511 0.0128
All phenotypes (KCNJ2, KCNJ15) 1.093 0.000511 0.0128
All phenotypes (KCNQ1, KCNQ1) 0.340 0.00417 0.0694
Long QT syndrome 1 (LQT1) [MIM:192500] (KCNQ1, KCNQ1) 0.340 0.00417 0.0208
Long QT syndrome 7 (LQT7) [MIM:170390] (KCNJ18, KCNJ2) 1.093 0.000511 0.000767
Long QT syndrome 7 (LQT7) [MIM:170390] (KCNJ2, KCNJ15) 1.093 0.000511 0.000767
Lung cancer Lung cancer (LNCR) [MIM:211980] (BRAF, PAK2) 3.706 0.00587 0.0344
Lung cancer (LNCR) [MIM:211980] (BRAF, MAPKAPK3) 3.032 0.0149 0.0344
Lung cancer (LNCR) [MIM:211980] (BRAF, MAPK3) 2.776 0.0213 0.0344
Lung cancer (LNCR) [MIM:211980] (BRAF, AKT1) 2.723 0.0229 0.0344
Mandibuloacral dysplasia All phenotypes (BANF1, LMNA) 4.331 0.0491 0.0981
Mandibuloacral dysplasia with type A lipodystrophy (MADA) [MIM:248370] (BANF1, LMNA) 4.331 0.0491 0.0491
Maple syrup urine disease All phenotypes (BCKDHB, BCKDHB) 1.861 0.0346 0.104
Maple syrup urine disease 1B (MSUD1B) [MIM:248600] (BCKDHB, BCKDHB) 1.861 0.0346 0.0693
Mastocytosis, cutaneous Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, GRB2) 6.593 3.37e-8 1.24e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, NCK1) 6.500 3.94e-10 4.33e-9
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, RASA1) 6.371 6.23e-8 1.37e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (NCK2, KIT) 6.371 6.23e-8 1.37e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (BCAR3, KIT) 6.008 1.7e-7 2.33e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (GRAP2, KIT) 6.008 1.7e-7 2.33e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, VAV3) 6.008 1.7e-7 2.33e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, SLA2) 5.800 4.44e-9 2.44e-8
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, SH2B3) 5.719 3.77e-7 4.61e-7
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, GRB2) 7.178 4.77e-5 0.000138
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, RASA1) 6.956 6.49e-5 0.000138
Mastocytosis, systemic (MASTSYS) [MIM:154800] (NCK2, KIT) 6.956 6.49e-5 0.000138
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, NCK1) 6.763 8.48e-5 0.000138
Mastocytosis, systemic (MASTSYS) [MIM:154800] (BCAR3, KIT) 6.593 0.000107 0.000138
Mastocytosis, systemic (MASTSYS) [MIM:154800] (GRAP2, KIT) 6.593 0.000107 0.000138
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, VAV3) 6.593 0.000107 0.000138
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, SH2B3) 6.304 0.00016 0.00018
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, SLA2) 6.063 0.000224 0.000224
McCune-Albright syndrome McCune-Albright syndrome (MAS) [MIM:174800] (GNB1, GNAS) 2.570 0.00478 0.00955
McCune-Albright syndrome (MAS) [MIM:174800] (GNAS, GNAS) 1.710 0.0286 0.0286
Medullary thyroid carcinoma Medullary thyroid carcinoma (MTC) [MIM:155240] (RET, GDNF) 3.452 0.000434 0.00304
Medullary thyroid carcinoma (MTC) [MIM:155240] (RET, ARTN) 3.282 0.000674 0.00304
Medullary thyroid carcinoma (MTC) [MIM:155240] (RET, NRTN) 2.808 0.00226 0.00678
Medulloblastoma Medulloblastoma (MDB) [MIM:155255] (CTNNB1, FBXW11) 5.860 0.000296 0.00148
Medulloblastoma (MDB) [MIM:155255] (HLA-A, CTNNB1) 5.072 0.000884 0.00221
Medulloblastoma (MDB) [MIM:155255] (CTNNB1, BTRC) 4.860 0.0341 0.0569
Melanoma All phenotypes (CDK4, CDKN1A) 3.189 0.0152 0.0635
All phenotypes (CDK4, CDKN1B) 3.064 0.0181 0.0635
All phenotypes (CDK4, CDKN2C) 3.005 0.0195 0.0635
All phenotypes (CDK4, CDKN2D) 2.604 0.0334 0.0813
All phenotypes (CDK4, CDKN2B) 2.401 0.0438 0.0813
All phenotypes (CDK4, CDKN2A) 1.112 0.00116 0.0151
All phenotypes (CDKN2A, ANKRA2) 0.986 0.0426 0.0813
Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] (CDKN2A, ANKRA2) 0.986 0.0426 0.114
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN1A) 3.189 0.0152 0.0652
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN1B) 3.064 0.0181 0.0652
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2C) 3.005 0.0195 0.0652
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2D) 2.604 0.0334 0.0836
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2B) 2.401 0.0438 0.0876
Melanosis, neurocutaneous Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, HLA-A) 4.062 0.00359 0.0161
Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, GRB10) 3.477 0.00807 0.0161
Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, RAP1GDS1) 3.477 0.00807 0.0161
Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, RIN1) 2.339 0.039 0.0558
Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, RASA1) 2.214 0.0465 0.0558
Mental retardation All phenotypes (CASK, CDK9) 4.768 0.0367 0.164
All phenotypes (TRIO, RAC1) 3.542 2.17e-5 0.000282
All phenotypes (PPP2R1A, PPP2R5C) 3.392 0.0128 0.0967
All phenotypes (PPP2R1A, PPP2R5A) 3.084 0.00258 0.0261
All phenotypes (CAMK2B, CAMK2N2) 3.068 0.0037 0.0337
All phenotypes (PPP2R1A, CDC6) 2.676 0.033 0.164
All phenotypes (PPP2R1A, PPP2R3B) 2.676 0.033 0.164
All phenotypes (PPP2R1A, PPP2R5D) 2.615 0.0358 0.164
All phenotypes (PPP2R1A, PPP2R2A) 2.556 0.0386 0.164
All phenotypes (PPP2R1A, PPP2R2B) 2.527 0.0401 0.164
All phenotypes (PPP2R1A, PPP2R5B) 2.527 0.0401 0.164
All phenotypes (GNAI2, GNB1) 2.522 1.0e-6 6.27e-5
All phenotypes (PPP2R1A, PPP2R5E) 2.499 0.0416 0.164
All phenotypes (GNA11, GNB1) 2.409 2.07e-6 6.27e-5
All phenotypes (GNAI1, GNB1) 2.409 2.07e-6 6.27e-5
All phenotypes (GNAO1, GNB1) 2.294 1.84e-5 0.000279
All phenotypes (GNB1, GNAS) 2.036 5.59e-6 0.000127
All phenotypes (RAC1, NGEF) 2.000 0.0291 0.164
All phenotypes (RAC1, PKN1) 1.941 0.0325 0.164
All phenotypes (GRK2, GNB1) 1.918 0.000448 0.0051
All phenotypes (SMS, SMS) 1.902 0.0087 0.072
All phenotypes (KALRN, RAC1) 1.885 0.0361 0.164
All phenotypes (GNB1, GNAI1) 1.728 1.3e-5 0.000237
All phenotypes (RAC1, ARHGEF19) 1.727 0.0482 0.175
All phenotypes (VAV1, RAC1) 1.727 0.0482 0.175
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] (CASK, CDK9) 4.768 0.0367 0.0564
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5C) 3.392 0.0128 0.0416
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5A) 3.084 0.00258 0.0232
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, CDC6) 2.676 0.033 0.0416
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R3B) 2.676 0.033 0.0416
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5D) 2.615 0.0358 0.0416
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R2A) 2.556 0.0386 0.0416
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R2B) 2.527 0.0401 0.0416
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5B) 2.527 0.0401 0.0416
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5E) 2.499 0.0416 0.0416
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNAI2, GNB1) 2.522 1.0e-6 1.52e-5
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNA11, GNB1) 2.409 2.07e-6 1.52e-5
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNAI1, GNB1) 2.409 2.07e-6 1.52e-5
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNAO1, GNB1) 2.294 1.84e-5 6.74e-5
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNB1, GNAS) 2.036 5.59e-6 3.07e-5
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GRK2, GNB1) 1.918 0.000448 0.00141
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNB1, GNAI1) 1.728 1.3e-5 5.72e-5
Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061] (TRIO, RAC1) 4.724 0.00143 0.00143
Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] (RAC1, NGEF) 2.000 0.0291 0.178
Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] (RAC1, PKN1) 1.941 0.0325 0.178
Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] (KALRN, RAC1) 1.885 0.0361 0.178
Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] (TRIO, RAC1) 1.830 0.0399 0.178
Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] (RAC1, ARHGEF19) 1.727 0.0482 0.178
Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] (VAV1, RAC1) 1.727 0.0482 0.178
Mental retardation, autosomal dominant 54 (MRD54) [MIM:617799] (CAMK2B, CAMK2N2) 3.068 0.0037 0.0074
X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583] (SMS, SMS) 1.902 0.0087 0.0087
Metatropic dysplasia Metatropic dysplasia (MTD) [MIM:156530] (TRPV4, TRPV4) 1.473 0.000261 0.000261
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 0.152
Mitochondrial DNA depletion syndrome 5 (MTDPS5) [MIM:612073] (SUCLG1, SUCLA2) 2.510 0.0379 0.0379
Mitochondrial complex deficiency All phenotypes (MT-ND6, NDUFA9) 5.812 0.0177 0.4
All phenotypes (NDUFS8, NDUFS1) 4.617 0.0403 0.4
All phenotypes (UQCRC2, UQCRC2) 4.463 0.0453 0.4
All phenotypes (MT-ND3, NDUFA9) 2.676 0.0304 0.4
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
Mitochondrial complex I deficiency, nuclear type 5 (MC1DN5) [MIM:618226] (NDUFS8, NDUFS1) 4.617 0.0403 0.0743
Mitochondrial complex III deficiency, nuclear 5 (MC3DN5) [MIM:615160] (UQCRC2, UQCRC2) 4.463 0.0453 0.0453
Monilethrix Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT31) 1.902 0.000367 0.00425
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT33B) 1.902 0.000367 0.00425
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT34) 1.877 0.000408 0.00425
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT35) 1.828 0.0005 0.00425
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT14) 1.395 0.0395 0.14
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT15) 1.368 0.0421 0.14
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT16) 1.368 0.0421 0.14
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT36) 1.368 0.0421 0.14
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT39) 1.368 0.0421 0.14
Multiple neoplasia All phenotypes (RET, GDNF) 3.905 2.18e-6 2.57e-5
All phenotypes (RET, ARTN) 3.735 4.28e-6 2.57e-5
All phenotypes (RET, NRTN) 3.261 2.74e-5 0.00011
All phenotypes (MEN1, JUND) 1.184 0.00448 0.0134
All phenotypes (MEN1, KMT2A) 0.523 0.0455 0.109
Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] (MEN1, JUND) 1.184 0.00448 0.0179
Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] (MEN1, KMT2A) 0.523 0.0455 0.0911
Multiple neoplasia 2A (MEN2A) [MIM:171400] (RET, GDNF) 4.107 8.75e-7 6.05e-6
Multiple neoplasia 2A (MEN2A) [MIM:171400] (RET, ARTN) 3.937 1.73e-6 6.05e-6
Multiple neoplasia 2A (MEN2A) [MIM:171400] (RET, NRTN) 3.463 1.13e-5 2.64e-5
Multiple self-healing squamous epithelioma Multiple self-healing squamous epithelioma (MSSE) [MIM:132800] (TGFBR1, TGFBR2) 3.184 0.0169 0.0337
Multiple synostoses syndrome All phenotypes (GDF5, NOG) 1.113 0.0346 0.311
Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] (GDF5, NOG) 1.113 0.0346 0.173
Myopathy All phenotypes (HRAS, RIN1) 1.958 0.0246 0.179
All phenotypes (TPM3, TNNI1) 1.943 0.000602 0.0153
All phenotypes (HRAS, RASA1) 1.833 0.0314 0.2
All phenotypes (HRAS, RASGRF1) 1.645 0.0452 0.234
All phenotypes (HRAS, NF1) 1.610 0.0484 0.234
All phenotypes (DES, KRT20) 1.523 0.000601 0.0153
All phenotypes (DES, KRT33B) 1.442 0.000961 0.0163
All phenotypes (HRAS, SOS2) 1.352 0.0236 0.179
All phenotypes (KRT75, DES) 1.341 0.00171 0.02
All phenotypes (KRT37, DES) 1.316 0.00196 0.02
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RIN1) 1.958 0.0246 0.164
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RASA1) 1.833 0.0314 0.164
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RASGRF1) 1.645 0.0452 0.164
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, NF1) 1.610 0.0484 0.164
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, SOS2) 1.352 0.0236 0.164
Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310] (TPM3, TNNI1) 1.943 0.000602 0.00361
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT20) 1.523 0.000601 0.00336
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT33B) 1.442 0.000961 0.00336
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT75, DES) 1.341 0.00171 0.00344
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT37, DES) 1.316 0.00196 0.00344
Myotonia congenita All phenotypes (CLCN1, CLCN1) 0.841 0.0359 0.0359
Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] (CLCN1, CLCN1) 1.527 0.00631 0.00631
N-terminal acetyltransferase deficiency N-terminal acetyltransferase deficiency (NATD) [MIM:300855] (NAA10, NAA15) 1.515 0.0429 0.0858
Nemaline myopathy Nemaline myopathy 1 (NEM1) [MIM:609284] (TPM3, TNNI1) 2.180 0.0159 0.0159
Neu-Laxova syndrome Neu-Laxova syndrome 1 (NLS1) [MIM:256520] (PHGDH, PHGDH) 2.773 0.0214 0.0214
Neuroblastoma Neuroblastoma 3 (NBLST3) [MIM:613014] (ALK, ALK) 0.950 0.0331 0.079
Neurodevelopmental disorder with brain, liver, and lung abnormalities All phenotypes (PPP2CA, PPP2R5A) 2.459 0.00354 0.0292
All phenotypes (PPP2CA, PTPA) 2.459 0.000788 0.0134
All phenotypes (RAC3, RAC3) 2.408 0.0434 0.123
All phenotypes (PPP2CA, PPP2R5C) 2.313 0.00514 0.0292
All phenotypes (PPP2CA, PPME1) 1.945 0.0356 0.121
All phenotypes (PPP2CA, PPP2R5B) 1.945 0.0356 0.121
Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) [MIM:618354] (PPP2CA, PPP2R5A) 2.459 0.00354 0.0154
Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) [MIM:618354] (PPP2CA, PTPA) 2.459 0.000788 0.00709
Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) [MIM:618354] (PPP2CA, PPP2R5C) 2.313 0.00514 0.0154
Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) [MIM:618354] (PPP2CA, PPME1) 1.945 0.0356 0.064
Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) [MIM:618354] (PPP2CA, PPP2R5B) 1.945 0.0356 0.064
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577] (RAC3, RAC3) 2.408 0.0434 0.215
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities All phenotypes (CTCF, STAG2) 4.576 0.0414 0.062
All phenotypes (KDM6B, H3C1) 3.161 0.0125 0.0375
Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities (NEDCFSA) [MIM:618505] (KDM6B, H3C1) 3.161 0.0125 0.0125
Neurodevelopmental disorder, X-linked, with craniofacial abnormalities (NEDXCF) [MIM:301022] (CTCF, STAG2) 4.576 0.0414 0.0827
Neurodevelopmental disorder with involuntary movements All phenotypes (GNAO1, PDE6G) 3.631 2.29e-6 5.72e-6
All phenotypes (GNAO1, PDE6H) 3.631 2.29e-6 5.72e-6
All phenotypes (RGS10, GNAO1) 1.707 0.0257 0.0428
Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] (GNAO1, PDE6G) 3.631 2.29e-6 4.58e-6
Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] (GNAO1, PDE6H) 3.631 2.29e-6 4.58e-6
Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] (RGS10, GNAO1) 1.707 0.0257 0.0342
Neurofibromatosis All phenotypes (KRAS, NF1) 3.090 3.06e-8 1.22e-7
All phenotypes (HRAS, NF1) 2.754 2.77e-7 5.54e-7
Neurofibromatosis 1 (NF1) [MIM:162200] (KRAS, NF1) 3.090 3.06e-8 9.18e-8
Neurofibromatosis 1 (NF1) [MIM:162200] (HRAS, NF1) 2.754 2.77e-7 4.15e-7
Neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] (KRAS, NF1) 3.856 2.28e-5 4.55e-5
Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] (HRAS, NF1) 3.520 5.77e-5 5.77e-5
Neuronopathy All phenotypes (HSPB6, HSPB8) 2.383 0.00243 0.0182
All phenotypes (HSPB7, HSPB8) 2.330 0.000311 0.00467
All phenotypes (CRYAB, HSPB8) 2.008 0.00658 0.0247
All phenotypes (CRYAB, HSPB1) 1.380 0.00496 0.0247
All phenotypes (HSPB2, HSPB8) 1.356 0.0358 0.107
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB6, HSPB8) 2.383 0.00243 0.00607
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB7, HSPB8) 2.330 0.000311 0.00156
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (CRYAB, HSPB8) 2.008 0.00658 0.011
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB2, HSPB8) 1.356 0.0358 0.0447
Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634] (CRYAB, HSPB1) 1.380 0.00496 0.0446
Neuropathy All phenotypes (SPTLC1, SPTLC2) 1.693 0.0112 0.0562
Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C) [MIM:613640] (SPTLC1, SPTLC2) 1.914 0.0314 0.0314
Non-Hodgkin lymphoma Familial non-Hodgkin lymphoma (NHL) [MIM:605027] (BRAF, BRAF) 1.506 0.0437 0.131
Noonan-like syndrome Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] (CBL, UBE2E2) 3.710 0.00832 0.0149
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] (CBL, UBE2E3) 3.710 0.00832 0.0149
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] (CBL, UBE2D2) 3.550 0.0103 0.0149
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] (UBC, CBL) 3.405 0.0125 0.0149
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) 3.998 7.09e-8 3.62e-6
All phenotypes (RAF1, YWHAZ) 3.512 6.95e-7 1.77e-5
All phenotypes (KRAS, RALGDS) 1.876 0.0403 0.267
All phenotypes (PTPN11, GRB7) 1.661 0.00164 0.0209
All phenotypes (KRAS, NF1) 1.452 0.0418 0.267
All phenotypes (ERBB2, PTPN11) 1.444 0.0213 0.181
All phenotypes (GRB2, PTPN11) 1.439 0.00158 0.0209
All phenotypes (KRAS, SOS1) 1.435 0.0196 0.181
Noonan syndrome 1 (NS1) [MIM:163950] (PTPN11, GRB7) 1.661 0.00164 0.00573
Noonan syndrome 1 (NS1) [MIM:163950] (ERBB2, PTPN11) 1.444 0.0213 0.0497
Noonan syndrome 1 (NS1) [MIM:163950] (GRB2, PTPN11) 1.439 0.00158 0.00573
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, RALGDS) 1.876 0.0403 0.0781
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, NF1) 1.452 0.0418 0.0781
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, SOS1) 1.435 0.0196 0.0781
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, SFN) 3.998 7.09e-8 5.67e-7
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAZ) 3.512 6.95e-7 2.78e-6
Obesity Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886] (NTRK2, SH2B1) 5.739 0.0187 0.0187
Orofacial cleft All phenotypes (KDM1A, SNAI1) 4.438 9.82e-5 0.000334
All phenotypes (KDM1A, INSM1) 4.348 0.000118 0.000334
All phenotypes (KDM1A, HIST3H3) 4.183 0.000167 0.000334
All phenotypes (KDM1A, H3C1) 3.966 0.000262 0.000393
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] (KDM1A, SNAI1) 4.438 9.82e-5 0.000223
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] (KDM1A, INSM1) 4.348 0.000118 0.000223
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] (KDM1A, HIST3H3) 4.183 0.000167 0.000223
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] (KDM1A, H3C1) 3.966 0.000262 0.000262
Osteogenesis imperfecta All phenotypes (COL3A1, SPARC) 3.777 0.00532 0.0293
All phenotypes (COL1A1, GP6) 2.862 0.00201 0.0221
All phenotypes (COL1A1, COL9A3) 1.199 0.0255 0.0608
All phenotypes (COL1A1, COL9A1) 1.175 0.0276 0.0608
All phenotypes (COL1A1, COL1A1) 0.700 0.0268 0.0608
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
Osteogenesis imperfecta 2 (OI2) [MIM:166210] (COL1A1, COL1A1) 0.845 0.0218 0.0764
Osteogenesis imperfecta 3 (OI3) [MIM:259420] (COL1A1, COL1A1) 1.524 0.0146 0.132
Ovarian cancer Ovarian cancer (OC) [MIM:167000] (HLA-A, CTNNB1) 5.072 0.000884 0.00707
Ovarian cancer (OC) [MIM:167000] (CTNNB1, BTRC) 4.860 0.0341 0.0683
Ovarian cancer (OC) [MIM:167000] (CTNNB1, FBXW11) 4.860 0.0341 0.0683
Ovarian cancer (OC) [MIM:167000] (BRCA1, BRIP1) 2.816 0.0252 0.0683
Ovarian dysgenesis Ovarian dysgenesis 8 (ODG8) [MIM:618187] (ESR2, NCOA3) 4.741 0.0374 0.0611
Ovarian dysgenesis 8 (ODG8) [MIM:618187] (NCOA2, ESR2) 4.741 0.0374 0.0611
Ovarian dysgenesis 8 (ODG8) [MIM:618187] (ESR2, NCOA5) 4.519 0.0436 0.0611
Ovarian dysgenesis 8 (ODG8) [MIM:618187] (ESR2, PPARGC1A) 4.519 0.0436 0.0611
Ovarian dysgenesis 8 (ODG8) [MIM:618187] (NRIP1, ESR2) 4.519 0.0436 0.0611
Pachyonychia congenita All phenotypes (KRT6A, LMNA) 2.032 1.89e-5 0.000701
All phenotypes (KRT34, KRT6A) 1.729 0.000113 0.000912
All phenotypes (KRT6A, KRT35) 1.704 0.000131 0.000912
All phenotypes (KRT38, KRT6A) 1.680 0.000151 0.000912
All phenotypes (KRT6A, KRT31) 1.680 0.000151 0.000912
All phenotypes (KRT6A, KRT40) 1.680 0.000151 0.000912
All phenotypes (KRT6A, KRT16) 1.572 0.000172 0.000912
All phenotypes (KRT6A, KRT17) 1.297 0.00095 0.00439
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, LMNA) 2.032 1.89e-5 0.00017
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT34, KRT6A) 1.729 0.000113 0.000226
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT35) 1.704 0.000131 0.000226
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT38, KRT6A) 1.680 0.000151 0.000226
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT31) 1.680 0.000151 0.000226
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT40) 1.680 0.000151 0.000226
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT17) 1.662 0.000648 0.000833
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT16) 1.559 0.00108 0.00122
Palmoplantar keratoderma All phenotypes (GJB1, GJB2) 1.789 0.0117 0.107
All phenotypes (GJB2, GJA8) 1.761 0.0126 0.107
Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] (GJB1, GJB2) 1.789 0.0117 0.0189
Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] (GJB2, GJA8) 1.761 0.0126 0.0189
Parkinson disease All phenotypes (SNCA, PPIA) 2.959 0.0227 0.372
All phenotypes (PLA2G6, PLA2G6) 2.385 0.0367 0.372
Parkinson disease 14 (PARK14) [MIM:612953] (PLA2G6, PLA2G6) 2.385 0.0367 0.0367
Parkinson disease 1, autosomal dominant (PARK1) [MIM:168601] (SNCA, PPIA) 2.959 0.0227 0.0454
Periventricular heterotopia All phenotypes (UBA52, NEDD4L) 2.603 0.0363 0.218
Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201] (UBA52, NEDD4L) 2.603 0.0363 0.109
Peroxisome biogenesis disorder Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862] (PEX1, PEX6) 2.614 0.0267 0.0267
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] (FGF19, FGFR1) 4.440 0.0461 0.171
Pfeiffer syndrome (PS) [MIM:101600] (FGF1, FGFR1) 4.347 0.0492 0.171
Pheochromocytoma Pheochromocytoma (PCC) [MIM:171300] (RET, LRRK1) 5.200 0.0272 0.189
Pheochromocytoma (PCC) [MIM:171300] (RET, MAPK3) 5.200 0.0272 0.189
Pheochromocytoma (PCC) [MIM:171300] (RET, MAPK1) 5.143 0.0283 0.189
Piebaldism Piebald trait (PBT) [MIM:172800] (LCK, KIT) 2.797 0.0319 0.17
Piebald trait (PBT) [MIM:172800] (KIT, KIT) 1.178 0.0487 0.17
Pilomatrixoma Pilomatrixoma (PTR) [MIM:132600] (CTNNB1, FBXW11) 5.668 3.53e-12 5.29e-12
Pilomatrixoma (PTR) [MIM:132600] (CTNNB1, BTRC) 5.182 8.11e-8 8.11e-8
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 0.181
Pitt-Hopkins syndrome (PTHS) [MIM:610954] (TCF4, ID3) 1.276 0.0209 0.181
Pitt-Hopkins syndrome (PTHS) [MIM:610954] (TCF4, ID1) 1.165 0.0302 0.181
Pitt-Hopkins syndrome (PTHS) [MIM:610954] (TCF4, ID4) 1.165 0.0302 0.181
Pontocerebellar hypoplasia All phenotypes (EXOSC9, EXOSC3) 2.713 0.00665 0.0532
Prostate cancer Prostate cancer (PC) [MIM:176807] (RNF8, CHEK2) 2.177 0.00302 0.00907
Pseudohypoaldosteronism All phenotypes (KLHL2, WNK4) 4.853 4.14e-5 0.000145
All phenotypes (WNK4, KLHL3) 2.927 4.33e-7 3.03e-6
All phenotypes (WNK3, KLHL3) 2.230 0.000576 0.00127
All phenotypes (KEAP1, KLHL3) 2.173 0.000726 0.00127
Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] (WNK4, KLHL3) 5.005 3.02e-5 4.14e-5
Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] (KLHL2, WNK4) 4.853 4.14e-5 4.14e-5
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (WNK4, KLHL3) 2.414 0.000267 0.00121
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (WNK3, KLHL3) 2.230 0.000576 0.00121
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (KEAP1, KLHL3) 2.173 0.000726 0.00121
Pseudohypoparathyroidism All phenotypes (GCGR, GNAS) 1.516 0.0463 0.223
Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] (GNAS, ADCY2) 2.484 0.0453 0.181
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GLP1R, GNAS) 4.200 0.00296 0.00906
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, CRHR2) 4.133 0.00325 0.00906
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (CALCR, GNAS) 3.949 0.00419 0.00906
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (CRHR1, GNAS) 3.949 0.00419 0.00906
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (ADORA2A, GNAS) 3.892 0.00454 0.00906
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (ADCYAP1R1, GNAS) 3.838 0.00489 0.00906
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, CALCRL) 3.734 0.00564 0.00906
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GCGR, GNAS) 3.686 0.00604 0.00906
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (ADRB2, GNAS) 3.505 0.00776 0.0103
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, GPR52) 3.383 0.00919 0.011
Pyridoxine-5'-phosphate oxidase deficiency Pyridoxine-5'-phosphate oxidase deficiency (PNPOD) [MIM:610090] (PNPO, PNPO) 1.675 0.0307 0.0307
Pyropoikilocytosis Hereditary pyropoikilocytosis (HPP) [MIM:266140] (SPTA1, SPTB) 4.717 0.0377 0.0753
Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome (RMS) [MIM:262190] (INSR, GRB10) 2.474 0.049 0.165
Rabson-Mendenhall syndrome (RMS) [MIM:262190] (INSR, IRS1) 2.474 0.049 0.165
Radioulnar synostosis with amegakaryocytic thrombocytopenia Thrombocytopenia 6 (THC6) [MIM:616937] (SRC, PTPN1) 6.041 0.0152 0.0607
Renal cell carcinoma All phenotypes (SH2B2, MET) 5.104 2.37e-7 1.03e-6
All phenotypes (MET, SH2B1) 4.967 3.78e-7 1.23e-6
All phenotypes (MET, SH2B3) 4.841 5.79e-7 1.51e-6
All phenotypes (MET, TXK) 2.887 6.92e-8 9.0e-7
All phenotypes (MET, TEC) 2.712 2.2e-7 1.03e-6
All phenotypes (MET, BTK) 2.357 0.000173 0.000374
All phenotypes (MET, ITK) 2.256 0.00274 0.00509
Renal cell carcinoma papillary (RCCP) [MIM:605074] (SH2B2, MET) 5.104 2.37e-7 9.46e-7
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SH2B1) 4.967 3.78e-7 1.13e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SH2B3) 4.841 5.79e-7 1.39e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, TXK) 2.887 6.92e-8 8.31e-7
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, TEC) 2.712 2.2e-7 9.46e-7
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, BTK) 2.357 0.000173 0.000346
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, ITK) 2.256 0.00274 0.0047
Retinitis pigmentosa All phenotypes (PRPF6, PRPF6) 6.165 0.0139 0.0883
All phenotypes (PRPF3, PRPF8) 4.750 0.00138 0.0131
All phenotypes (SNRNP200, PRPF8) 2.636 0.000961 0.0131
Retinitis pigmentosa 13 (RP13) [MIM:600059] (SNRNP200, PRPF8) 3.906 7.77e-5 7.77e-5
Retinitis pigmentosa 18 (RP18) [MIM:601414] (PRPF3, PRPF8) 4.750 0.00138 0.00138
Retinitis pigmentosa 60 (RP60) [MIM:613983] (PRPF6, PRPF6) 6.165 0.0139 0.0139
Richieri-Costa-Pereira syndrome Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305] (EIF4A3, UPF3B) 4.911 0.0332 0.0665
SHORT syndrome All phenotypes (PIK3R1, SYK) 4.958 0.0319 0.339
SHORT syndrome (SHORTS) [MIM:269880] (PIK3R1, SYK) 4.958 0.0319 0.16
Scalp-ear-nipple syndrome Scalp-ear-nipple syndrome (SENS) [MIM:181270] (KCTD1, KCTD15) 0.964 0.0178 0.0332
Scalp-ear-nipple syndrome (SENS) [MIM:181270] (KCTD1, KCTD1) 0.821 0.0332 0.0332
Severe combined immunodeficiency All phenotypes (B2M, TRA) 4.498 0.0442 0.321
Immunodeficiency 43 (IMD43) [MIM:241600] (B2M, TRA) 4.498 0.0442 0.0442
Short QT syndrome All phenotypes (KCNE1, KCNQ1) 4.835 0.035 0.21
Short QT syndrome 2 (SQT2) [MIM:609621] (KCNE1, KCNQ1) 4.835 0.035 0.105
Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] (SKI, SMAD2) 3.402 6.29e-12 1.26e-11
Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] (SKI, SMAD3) 3.250 2.19e-11 2.19e-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
Spastic paraplegia All phenotypes (SPAST, SPAST) 0.625 0.000566 0.00283
Spastic paraplegia 4, autosomal dominant (SPG4) [MIM:182601] (SPAST, SPAST) 0.625 0.000566 0.000566
Spermatogenic failure Spermatogenic failure 10 (SPGF10) [MIM:614822] (SEPTIN12, SEPTIN1) 2.365 0.0377 0.264
Spinal muscular atrophy All phenotypes (DYNC1I2, DYNC1H1) 3.193 0.0185 0.0738
All phenotypes (SMN1, SMN1) 2.091 0.00451 0.0361
Spinal muscular atrophy 1 (SMA1) [MIM:253300] (SMN1, SMN1) 2.676 0.033 0.033
Spinal muscular atrophy 3 (SMA3) [MIM:253400] (SMN1, SMN1) 2.091 0.0281 0.0562
Spinal muscular atrophy, lower extremity-predominant 1, autosomal dominant (SMALED1) [MIM:158600] (DYNC1I2, DYNC1H1) 3.193 0.0185 0.0369
Spinocerebellar ataxia All phenotypes (AFG3L2, AFG3L2) 1.275 7.97e-5 0.000797
Spinocerebellar ataxia 28 (SCA28) [MIM:610246] (AFG3L2, AFG3L2) 1.275 7.97e-5 7.97e-5
Split-hand/foot malformation Split-hand/foot malformation 4 (SHFM4) [MIM:605289] (PPP1R13L, TP63) 3.724 0.00738 0.0131
Split-hand/foot malformation 4 (SHFM4) [MIM:605289] (TP53BP2, TP63) 3.598 0.00876 0.0131
Symphalangism All phenotypes (BMP2, NOG) 1.972 0.00126 0.00456
All phenotypes (BMP7, NOG) 1.892 0.00171 0.00456
All phenotypes (GDF5, NOG) 1.573 0.00101 0.00456
Symphalangism, proximal 1A (SYM1A) [MIM:185800] (BMP2, NOG) 1.972 0.00126 0.00228
Symphalangism, proximal 1A (SYM1A) [MIM:185800] (GDF5, NOG) 1.972 0.00126 0.00228
Symphalangism, proximal 1A (SYM1A) [MIM:185800] (BMP7, NOG) 1.892 0.00171 0.00228
Tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (BMP2, NOG) 2.557 0.0049 0.00579
Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (GDF5, NOG) 2.557 0.0049 0.00579
Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (BMP7, NOG) 2.477 0.00579 0.00579
Temple-Baraitser syndrome Temple-Baraitser syndrome (TMBTS) [MIM:611816] (KCNH1, CALM2) 5.248 0.0261 0.0522
Temple-Baraitser syndrome (TMBTS) [MIM:611816] (KCNH1, KCNC1) 3.178 0.0155 0.0522
Thanatophoric dysplasia All phenotypes (FGFR3, FGFR3) 1.970 0.011 0.0657
Thanatophoric dysplasia 1 (TD1) [MIM:187600] (FGF1, FGFR3) 2.420 0.0492 0.132
Thanatophoric dysplasia 1 (TD1) [MIM:187600] (FGFR3, FGFR3) 1.777 0.044 0.132
Thyroid dyshormonogenesis All phenotypes (THRB, NCOA2) 1.513 0.0289 0.231
Generalized thyroid hormone resistance (GTHR) [MIM:188570] (THRB, NCOA2) 1.604 0.0225 0.158
Trichothiodystrophy All phenotypes (ERCC2, GTF2H2C) 2.805 0.00206 0.00825
All phenotypes (ERCC2, GTF2H2) 2.415 0.00547 0.0109
Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] (ERCC2, GTF2H2C) 2.805 0.00206 0.00619
Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] (ERCC2, GTF2H2) 2.415 0.00547 0.0082
Usher syndrome Usher syndrome 1D/F (USH1DF) [MIM:601067] (CDH23, USH1C) 5.009 0.0311 0.0311
Von Hippel-Lindau disease Von Hippel-Lindau disease (VHLD) [MIM:193300] (VHL, ELOC) 0.779 0.000513 0.00462
Von Willebrand disease All phenotypes (VWF, GP1BA) 1.773 0.00387 0.0116
Pseudo-von Willebrand disease (VWDP) [MIM:177820] (VWF, GP1BA) 2.817 0.00286 0.00572
Von Willebrand disease 2 (VWD2) [MIM:613554] (VWF, GP1BA) 1.954 0.0191 0.0382
Weaver syndrome Weaver syndrome (WVS) [MIM:277590] (EZH2, WDR61) 4.426 0.00374 0.0187
Weaver syndrome (WVS) [MIM:277590] (EZH2, JARID2) 3.047 0.0233 0.0511
Weaver syndrome (WVS) [MIM:277590] (EZH2, EZH2) 1.618 0.0327 0.0511
Weaver syndrome (WVS) [MIM:277590] (EED, EZH2) 1.262 0.0409 0.0511
Wilms tumor All phenotypes (DICER1, DICER1) 5.511 0.000481 0.000962
Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272] (DICER1, DICER1) 5.511 0.000481 0.000481
Xeroderma pigmentosum All phenotypes (ERCC2, GTF2H1) 1.334 0.00759 0.0683
Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] (ERCC2, GTF2H1) 1.334 0.00759 0.0304
Zimmermann-Laband syndrome Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] (KCNH1, KCNC1) 3.178 0.000392 0.00117

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