Please wait...

Please wait...

Top 10 diseases (for # mutations)
Top 10 diseases Muts Prots Ints
Hemophilia 610 2 16
Epileptic encephalopathy 594 52 454
Mucopolysaccharidosis 534 11 13
Cardiomyopathy 472 44 1059
Charcot-Marie-Tooth disease 403 41 757
Long QT syndrome 363 14 191
Retinitis pigmentosa 358 58 498
Deafness 329 70 598
Marfan syndrome 321 1 19
Glycogen storage disease 291 17 85
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 5 17
PAH P00439 206 2 3
MYH7 P12883 200 4 16
ABCA4 P78363 199 4 1
GJB1 P08034 188 2 44
ATP7B P35670 183 1 6
GLA P06280 180 1 3
GBA P04062 160 1 4
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
Adiponectin deficiency Adiponectin deficiency (ADPND) [MIM:612556] ADIPOQ
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] FGG, FGA, 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-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 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
Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] MYLK
Apert syndrome Apert syndrome (APRS) [MIM:101200] FGFR2
Asplenia Asplenia, isolated congenital (ICAS) [MIM:271400] RPSA
Atrial septal defect Atrial fibrillation, familial, 13 (ATFB13) [MIM:615377] SCN1B
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
Baraitser-Winter syndrome Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] ACTB
Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1
Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] BBS12
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, BRCA1, BRCA2
Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] BRCA1
Breast-ovarian cancer, familial, 3 (BROVCA3) [MIM:613399] RAD51C
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 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, familial hypertrophic 11 (CMH11) [MIM:612098] ACTC1
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 23, multiple types (CTRCT23) [MIM:610425] CRYBA4
Cataract 30, multiple types (CTRCT30) [MIM:116300] VIM
Cataract 42 (CTRCT42) [MIM:115900] CRYBA2
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 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 1F (CMT1F) [MIM:607734] NEFL
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
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
Coagulation factor deficiency Factor XI deficiency (FA11D) [MIM:612416] F11
Coffin-Lowry syndrome Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3
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
Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] HRAS, NRAS
Colorectal cancer (CRC) [MIM:114500] Colorectal cancer (CRC) [MIM:114500] MLH1, CTNNB1, BRAF
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
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
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 recessive, 89 (DFNB89) [MIM:613916] KARS
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] FGG, FGA, FGB
Dystonia Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1
Dystonia, juvenile-onset (DJO) [MIM:607371] ACTB
Ectodermal dysplasia Ectodermal dysplasia, Rapp-Hodgkin type (EDRH) [MIM:129400] TP63
Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [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
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
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 simplex, Dowling-Meara type (DM-EBS) [MIM:131760] KRT14
Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900] KRT14
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14
Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10
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
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
Erythrocytosis Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] VHL
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] EPAS1
Estrogen resistance Estrogen resistance (ESTRR) [MIM:615363] ESR1
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 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
Gastric cancer Gastric cancer (GASC) [MIM:613659] KRAS
Hereditary diffuse gastric cancer (HDGC) [MIM:137215] CDH1
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] HIST1H3A, H3F3A
Glomerulopathy Glomerulopathy with fibronectin deposits 2 (GFND2) [MIM:601894] FN1
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
Hypercholanemia Familial hypercholanemia (FHCA) [MIM:607748] TJP2
Hypercholesterolemia Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] PCSK9
Hyperimmunoglobulin E recurrent infection syndrome Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) [MIM:147060] STAT3
Hyperinsulinemic hypoglycemia Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] INSR
Hyperoxaluria Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT
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] DARS
Hypophosphataemic rickets Hypophosphatemic rickets, autosomal dominant (ADHR) [MIM:193100] FGF23
Hypophosphatemic nephrolithiasis/osteoporosis Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] SLC9A3R1
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
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 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
Insensitivity to pain Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1
Insulin-like growth factor 1 resistance Insulin-like growth factor 1 resistance (IGF1RES) [MIM:270450] IGF1R
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
Keratosis 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-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] NDUFS8, NDUFS4, 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 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] EPRS
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
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 15 (LQT15) [MIM:616249] CALM2
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
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
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
Meier-Gorlin syndrome 8 (MGORS8) [MIM:617564] MCM5
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, 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 47 (MRD47) [MIM:617635] STAG1
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
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 deficiency Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] MT-ND5, MT-ND1, NDUFV1, MT-ND6, NDUFB11, NDUFS6, NDUFS1, NDUFS2, NDUFB3, MT-ND3, NDUFA1
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
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
Myofibromatosis Myofibromatosis, infantile 1 (IMF1) [MIM:228550] PDGFRB
Myopathy Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] HRAS
Myopathy, centronuclear, 2 (CNM2) [MIM:255200] BIN1
Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310] TPM3
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
Nephrotic syndrome 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 ataxic gait, absent speech, and decreased cortical white matter Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter (NDAGSCW) [MIM:617807] RAB11B
Neurodevelopmental disorder with brain, liver, and lung abnormalities Neurodevelopmental disorder with brain, liver, and lung abnormalities (NEDBLLA) [MIM:618007] FARSB
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, 1A (HSAN1A) [MIM:162400] SPTLC1
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] 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
Orofacial cleft 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
PCWH Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome and Hirschsprung disease (PCWH) [MIM:609136] SOX10
Pachyonychia congenita Pachyonychia congenita 4 (PC4) [MIM:615728] KRT6B
Paget disease of bone Paget disease of bone 3 (PDB3) [MIM:167250] SQSTM1
Palmoplantar keratoderma Palmoplantar keratoderma, non-epidermolytic, focal or diffuse (PPKNEFD) [MIM:615735] KRT6C
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
Periodic fever Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A
Periventricular heterotopia Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201] NEDD4L
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 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
Plasminogen deficiency Plasminogen deficiency (PLGD) [MIM:217090] PLG
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
Prostate cancer Prostate cancer (PC) [MIM:176807] CHEK2
Pseudohypoaldosteronism Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2
Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] WNK4
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
Renal cell carcinoma Renal cell carcinoma (RCC) [MIM:144700] VHL
Renal cell carcinoma papillary (RCCP) [MIM:605074] MET
Retinitis pigmentosa Retinitis pigmentosa 10 (RP10) [MIM:180105] IMPDH1
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
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] TMEM173
Saethre-Chotzen syndrome Saethre-Chotzen syndrome (SCS) [MIM:101400] TWIST1
Scalp-ear-nipple syndrome Scalp-ear-nipple syndrome (SENS) [MIM:181270] KCTD1
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
Severe combined immunodeficiency 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 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
Solitary median maxillary central incisor Solitary median maxillary central incisor (SMMCI) [MIM:147250] SHH
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
Spondyloepimetaphyseal dysplasia Spondyloepimetaphyseal dysplasia, X-linked (SEMDX) [MIM:300106] BGN
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
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
Verheij syndrome Verheij syndrome (VRJS) [MIM:615583] PUF60
Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4
Von Willebrand disease Pseudo-von Willebrand disease (VWDP) [MIM:177820] GP1BA
Waardenburg syndrome Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3
Waardenburg syndrome 3 (WS3) [MIM:148820] PAX3
Weaver syndrome Weaver syndrome (WVS) [MIM:277590] EZH2
Wilms tumor 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 D (XP-D) [MIM:278730] ERCC2
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

[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, 2B (DA2B) [MIM:601680] (TPM2,TPM1)
Atrial septal defect 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)
Bardet-Biedl syndrome Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] (BBS12,BBS10)
Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] (BBS12,BBS10)
Bart-Pumphrey syndrome Bart-Pumphrey syndrome (BPS) [MIM:149200] (GJB2,GJA8)
Basal cell nevus syndrome Basal cell nevus syndrome (BCNS) [MIM:109400] (PTCH1,SHH)
Bladder cancer Bladder cancer (BLC) [MIM:109800] (FGFR2,FGFR3)
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)
CLOVE syndrome Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] (PIK3R1,PIK3CA)
Camptodactyly tall stature and hearing loss syndrome Camptodactyly, tall stature, and hearing loss syndrome (CATSHLS) [MIM:610474] (FGFR2,FGFR3)
Cardiomyopathy Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] (BANF1,LMNA), (KRT6A,LMNA)
Cardiomyopathy, dilated 1FF (CMD1FF) [MIM:613286] (TNNI3,TNNC1)
Cardiomyopathy, dilated 1GG (CMD1GG) [MIM:613642] (SDHB,SDHA)
Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184] (CRYAB,HSPB1), (CRYAA,CRYAB)
Cardiomyopathy, dilated 1NN (CMD1NN) [MIM:615916] (RAF1,PDGFRB), (RAF1,YWHAG)
Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426] (MYH7,XRCC4), (MYL3,MYH7)
Cardiomyopathy, dilated 1Z (CMD1Z) [MIM:611879] (TNNI3,TNNC1)
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 11 (CMH11) [MIM:612098] (TPM1,ACTC1)
Cardiomyopathy, familial hypertrophic 13 (CMH13) [MIM:613243] (TNNT2,TNNC1), (TNNI3,TNNC1)
Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195] (TNNT2,TNNC1)
Cardiomyopathy, familial hypertrophic 3 (CMH3) [MIM:115196] (TPM2,TPM1)
Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690] (TNNI3,TNNC1)
Cardiomyopathy, familial hypertrophic 8 (CMH8) [MIM:608751] (MYL3,MYH7)
Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] (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,PSEN1)
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595] (CRYAB,HSPB1), (CRYAA,HSPB1), (HSPB1,HSPB8)
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)
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), (KRT3,KRT25), (KRT14,KRT3)
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] (MYF6,TCF12), (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)
Deafness, autosomal recessive, 1A (DFNB1A) [MIM:220290] (GJB2,GJA8)
Dehydrated hereditary stomatocytosis 2 Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689] (KCNN4,CALM1)
Dementia Frontotemporal dementia (FTD) [MIM:600274] (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] (BANF1,LMNA), (KRT6A,LMNA)
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,KRT1), (KRT14,KRT5), (KRT14,KRT3)
Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900] (KRT16,KRT5), (KRT86,KRT14), (KRT14,KRT81), (KRT5,KRT25), (KRT14,KRT1), (KRT14,KRT5), (KRT14,KRT3)
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT16,KRT5), (KRT86,KRT14), (KRT14,KRT81), (KRT5,KRT25), (KRT14,KRT1), (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), (KRT14,KRT1), (KRT1,KRT25), (KRT1,KRT16)
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)
Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) [MIM:607208] (SCN1A,FGF12)
Juvenile myoclonic epilepsy 5 (EJM5) [MIM:611136] (GABRA1,GABRB3)
Epileptic encephalopathy Epileptic encephalopathy, early infantile, 19 (EIEE19) [MIM:615744] (GABRA1,GABRB3), (GABRA1,GABRB2)
Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056] (KCNH1,KCNB1), (KCNB1,KCNV2)
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)
Epileptic encephalopathy, early infantile, 6 (EIEE6) [MIM:607208] (SCN1A,FGF12)
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 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)
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)
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 1 (HMLR1) [MIM:234580] (PEX1,PEX6)
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)
Holoprosencephaly 3 (HPE3) [MIM:142945] Holoprosencephaly 3 (HPE3) [MIM:142945] (PTCH1,SHH)
Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] (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)
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), (KRT1,KRT25), (KRT1,KRT16), (KRT14,KRT1)
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)
Juvenile polyposis Juvenile polyposis syndrome (JPS) [MIM:174900] (SMAD3,SMAD4)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050] (SMAD3,SMAD4)
Keratosis Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3R1,PIK3CA), (FGFR2,FGFR3)
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)
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,ACTC1)
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] (NDUFS8,MT-ND1), (NDUFS8,NDUFS6), (POLG,POLG2), (MT-ND3,MT-ND6), (MT-ND1,MT-ND3)
Leopard syndrome LEOPARD syndrome 2 (LPRD2) [MIM:611554] (RAF1,YWHAG)
Leprechaunism Leprechaunism (LEPRCH) [MIM:246200] (INS,INSR)
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] (KRT6A,LMNA)
Lipodystrophy Lipodystrophy, familial partial, 2 (FPLD2) [MIM:151660] (BANF1,LMNA)
Lipodystrophy, familial partial, 3 (FPLD3) [MIM:604367] (PPARG,NR2E3)
Lipoprotein lipase deficiency Lipoprotein lipase deficiency (LPL deficiency) [MIM:238600] (LPL,GPIHBP1)
Lissencephaly Lissencephaly 3 (LIS3) [MIM:611603] (TUBB3,TUBA1A)
Loeys-Dietz syndrome Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] (SMAD3,SMAD4)
Long QT syndrome Long QT syndrome 14 (LQT14) [MIM:616247] (KCNQ2,CALM1), (CALM1,MYLK), (KCNN4,CALM1)
Long QT syndrome 7 (LQT7) [MIM:170390] (KCNJ18,KCNJ2)
Long QT syndrome 3 (LQT3) [MIM:603830] Long QT syndrome 3 (LQT3) [MIM:603830] (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)
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] (GNB1,GNAS)
Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061] (TRIO,RAC1)
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 deficiency Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] (MT-ND4L,MT-ND6), (MT-ND3,MT-ND6), (NDUFS8,NDUFS6), (MT-ND1,MT-ND3)
Mitochondrial complex II deficiency (MT-C2D) [MIM:252011] (SDHB,SDHA)
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), (NDUFS8,MT-ND1), (MT-ND3,MT-ND6)
Monilethrix Monilethrix (MNLIX) [MIM:158000] (KRT86,KRT14), (KRT14,KRT81), (KRT86,KRT16), (KRT16,KRT81), (KRT83,KRT25), (KRT86,KRT25), (KRT16,KRT83)
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)
Myofibromatosis Myofibromatosis, infantile 1 (IMF1) [MIM:228550] (RAF1,PDGFRB)
Myopathy Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS,NF1), (HRAS,SOS1)
Myopathy, centronuclear, 3 (CNM3) [MIM:614408] (MYF6,TCF12)
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 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)
Neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] (HRAS,NF1)
Neuronopathy Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB1,HSPB8), (CRYAB,HSPB8)
Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634] (CRYAB,HSPB1), (HSPB1,HSPB8), (CRYAA,HSPB1)
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 4 (NS4) [MIM:610733] (HRAS,SOS1)
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1,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), (KRT1,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,KRT25), (KRT6A,LMNA)
Palmoplantar keratoderma Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] (GJB2,GJA8)
Palmoplantar keratoderma, non-epidermolytic, focal or diffuse (PPKNEFD) [MIM:615735] (KRT6C,KRT25)
Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760] (KRT4,KRT25), (KRT6C,KRT25), (KRT5,KRT25), (KRT2,KRT25), (KRT83,KRT25), (KRT3,KRT25), (KRT1,KRT25), (KRT86,KRT25), (KRT6A,KRT25)
Parietal foramina Parietal foramina 1 (PFM1) [MIM:168500] (POU1F1,MSX2), (MSX2,PITX1)
Parkinson disease Parkinson disease 8 (PARK8) [MIM:607060] (PRKACA,LRRK2)
Peroxisome biogenesis disorder Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539] (PEX1,PEX6)
Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862] (PEX1,PEX6)
Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] (PEX1,PEX6)
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] (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), (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 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 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 3 (SQT3) [MIM:609622] (KCNJ18,KCNJ2)
Short stature Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541] (MYH7,XRCC4)
Sitosterolemia Sitosterolemia (STSL) [MIM:210250] (ABCG8,ABCG5)
Solitary median maxillary central incisor Solitary median maxillary central incisor (SMMCI) [MIM:147250] (PTCH1,SHH)
Spinocerebellar ataxia Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459] (POLG,POLG2)
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)
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] (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)
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] (KRT4,KRT25), (KRT16,KRT4)
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
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) 2.662 0.025 0.0499
All phenotypes (GNB1, GNAS) 2.662 0.025 0.0749
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) 1.222 0.00348 0.0104
Adrenoleukodystrophy (ALD) [MIM:300100] (ABCD1, ABCD2) 1.097 0.0103 0.012
Adrenoleukodystrophy (ALD) [MIM:300100] (ABCD1, ABCD1) 1.000 0.012 0.012
Agammaglobulinemia All phenotypes (MET, BTK) 0.615 0.0301 0.211
X-linked agammaglobulinemia (XLA) [MIM:300755] (MET, BTK) 0.615 0.0301 0.151
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 0.0664
All phenotypes (APP, PSEN2) 2.903 3.39e-10 2.71e-9
All phenotypes (APP, LCN2) 2.786 0.0329 0.101
All phenotypes (IGKC, APP) 2.680 0.0377 0.101
All phenotypes (APP, PSEN1) 2.177 3.58e-15 5.73e-14
All phenotypes (APP, APP) 1.367 4.46e-6 2.38e-5
Alzheimer disease 1 (AD1) [MIM:104300] (APP, PSEN1) 4.487 1.61e-14 1.61e-13
Alzheimer disease 1 (AD1) [MIM:104300] (APP, PSEN2) 4.108 7.86e-12 3.93e-11
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) 0.821 0.00257 0.0103
Alzheimer disease 4 (AD4) [MIM:606889] (APP, PSEN2) 1.750 0.0427 0.0427
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) 3.845 0.00484 0.0436
Amyloidosis 5 (AMYL5) [MIM:105120] (GSN, GSN) 3.845 0.00484 0.00484
Amyotrophic lateral sclerosis All phenotypes (SHC1, ERBB4) 5.705 0.0192 0.109
All phenotypes (FUS, TNPO1) 3.598 1.01e-13 1.72e-12
All phenotypes (HNRNPA1, TNPO1) 3.084 0.0139 0.109
Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515] (SHC1, ERBB4) 5.705 0.0192 0.0192
Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] (HNRNPA1, TNPO1) 3.084 0.0139 0.0139
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) 5.379 0.000578 0.000578
Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] (CALM2, MYLK) 5.379 0.000578 0.000578
Apert syndrome Apert syndrome (APRS) [MIM:101200] (FGF10, FGFR2) 3.945 0.000274 0.000877
Apert syndrome (APRS) [MIM:101200] (FGF3, FGFR2) 3.909 0.000295 0.000877
Apert syndrome (APRS) [MIM:101200] (FGF5, FGFR2) 3.909 0.000295 0.000877
Apert syndrome (APRS) [MIM:101200] (FGF2, FGFR2) 3.775 0.00039 0.000877
Apert syndrome (APRS) [MIM:101200] (FGFR2, FGF8) 3.512 0.000674 0.00121
Apert syndrome (APRS) [MIM:101200] (FGF7, FGFR2) 3.360 0.000924 0.00139
Apert syndrome (APRS) [MIM:101200] (FGF1, FGFR2) 3.057 0.00173 0.00223
Atrial septal defect All phenotypes (MYH6, MYL7) 4.819 0.0354 0.177
Atrial septal defect 3 (ASD3) [MIM:614089] (MYH6, MYL7) 4.819 0.0354 0.0354
Autoimmune disease, multisystem, infantile-onset, All phenotypes (STAT3, BMX) 3.779 0.00758 0.144
All phenotypes (STAT3, STAT2) 2.865 0.0257 0.234
Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (STAT3, BMX) 3.779 0.00758 0.0909
Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (STAT3, STAT2) 2.865 0.0257 0.154
Autoimmune polyendocrine syndrome Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] (AIRE, AIRE) 2.106 0.0184 0.0368
Basal cell nevus syndrome All phenotypes (NRAS, RAP1GDS1) 2.892 0.0228 0.0379
All phenotypes (NRAS, RASA1) 2.214 0.01 0.0379
All phenotypes (NRAS, RGL3) 1.860 0.0209 0.0379
Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] (NRAS, RAP1GDS1) 2.892 0.0228 0.0303
Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] (NRAS, RASA1) 2.214 0.01 0.0303
Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] (NRAS, RGL3) 1.860 0.0209 0.0303
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 0.0784
Bleeding disorder All phenotypes (ITGA2B, FLNA) 7.104 5.28e-5 0.000317
All phenotypes (ITGB3, TLN1) 5.114 0.0289 0.0577
All phenotypes (RAP1B, RASGRP2) 2.362 0.0497 0.0745
All phenotypes (ITGB3, ITGA2B) 1.885 0.0198 0.0577
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
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) 1.556 0.00259 0.0285
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) 5.246 2.02e-6 2.43e-5
All phenotypes (BRCA1, ATRIP) 3.138 0.00384 0.0153
All phenotypes (BRCA1, BRAT1) 3.138 0.00384 0.0153
All phenotypes (PIK3CA, PIK3R3) 2.445 0.0413 0.0789
All phenotypes (BRCA1, ACACA) 2.264 0.0204 0.0613
All phenotypes (BRCA1, ABRAXAS1) 1.865 0.0422 0.0789
All phenotypes (BRCA1, BRIP1) 1.816 0.046 0.0789
Breast cancer (BC) [MIM:114480] (BRCA2, PALB2) 5.246 2.02e-6 2.22e-5
Breast cancer (BC) [MIM:114480] (BRCA1, ATRIP) 3.138 0.00384 0.0141
Breast cancer (BC) [MIM:114480] (BRCA1, BRAT1) 3.138 0.00384 0.0141
Breast cancer (BC) [MIM:114480] (PIK3CA, PIK3R3) 2.445 0.0413 0.0724
Breast cancer (BC) [MIM:114480] (BRCA1, ACACA) 2.264 0.0204 0.0562
Breast cancer (BC) [MIM:114480] (BRCA1, ABRAXAS1) 1.865 0.0422 0.0724
Breast cancer (BC) [MIM:114480] (BRCA1, BRIP1) 1.816 0.046 0.0724
Breast-ovarian cancer, familial, 1 (BROVCA1) [MIM:604370] (BRCA1, BARD1) 3.023 0.0151 0.0151
CLOVE syndrome Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] (PIK3CA, PIK3R3) 2.445 0.0413 0.0529
Camurati-Engelmann disease Camurati-Engelmann disease (CAEND) [MIM:131300] (TGFB1, TGFB1) 0.887 0.0135 0.0135
Cardiofaciocutaneous syndrome All phenotypes (KRAS, KRAS) 0.881 0.0472 0.303
Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] (KRAS, KRAS) 0.881 0.0472 0.168
Cardiomyopathy All phenotypes (BAG3, HSPA8) 2.200 0.0153 0.39
All phenotypes (MYL3, MYH7) 1.475 1.15e-9 5.85e-8
Cardiomyopathy, dilated 1AA, with or without left ventricular non-compaction (CMD1AA) [MIM:612158] (ACTN2, ACTB) 4.552 0.0426 0.0426
Cardiomyopathy, dilated 1EE (CMD1EE) [MIM:613252] (MYH6, MYL7) 4.819 0.0354 0.0354
Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] (BAG3, HSPA8) 2.200 0.0153 0.0153
Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424] (CAPN1, ACTC1) 4.966 0.0317 0.0317
Cardiomyopathy, dilated 1Y (CMD1Y) [MIM:611878] (TPM1, TPM1) 2.317 0.0403 0.0403
Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] (ACTC1, PLEC) 1.778 0.048 0.0643
Cardiomyopathy, familial hypertrophic 11 (CMH11) [MIM:612098] (CFL1, ACTC1) 1.551 0.0332 0.0643
Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600] (MYL3, MYH7) 2.231 3.25e-15 1.62e-14
Central hypoventilation syndrome Congenital central hypoventilation syndrome (CCHS) [MIM:209880] (RET, GFRA1) 4.004 0.00504 0.0101
Cerebral amyloid angiopathy Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, PITRM1) 5.602 1.45e-5 0.000102
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, LCN2) 5.072 4.36e-5 0.000102
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (IGHG1, APP) 5.072 4.36e-5 0.000102
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, IDE) 4.524 0.000135 0.000236
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (IGKC, APP) 4.380 0.00335 0.00469
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, PSEN1) 3.728 0.00812 0.00947
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) 2.404 0.00127 0.00255
Charcot-Marie-Tooth disease All phenotypes (KRT18, NEFL) 1.948 0.0174 0.143
All phenotypes (NEFL, KRT13) 1.922 0.0184 0.143
All phenotypes (NEFL, KRT15) 1.872 0.0204 0.143
All phenotypes (HSPB1, HSPB8) 1.841 0.0309 0.162
Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684] (KRT18, NEFL) 1.948 0.0174 0.0204
Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684] (NEFL, KRT13) 1.922 0.0184 0.0204
Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684] (NEFL, KRT15) 1.872 0.0204 0.0204
Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595] (HSPB1, HSPB8) 1.841 0.0309 0.155
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) 1.236 0.0234 0.0885
Cohen-Gibson syndrome (COGIS) [MIM:617561] (EED, EZH2) 1.034 0.0442 0.0885
Colorectal cancer All phenotypes (HLA-A, CTNNB1) 5.975 0.0159 0.0845
All phenotypes (CTNNB1, FBXW11) 5.837 0.0175 0.0845
All phenotypes (BRAF, MAP2K1) 2.903 0.00456 0.0845
All phenotypes (BRAF, MAP2K2) 2.706 0.00675 0.0845
All phenotypes (PIK3CA, PIK3R3) 2.030 0.0104 0.0845
All phenotypes (PIK3R1, PIK3CA) 1.843 0.0165 0.0845
All phenotypes (MLH1, PMS2) 1.002 0.0462 0.191
Colorectal cancer (CRC) [MIM:114500] (HLA-A, CTNNB1) 5.975 0.0159 0.0291
Colorectal cancer (CRC) [MIM:114500] (CTNNB1, FBXW11) 5.837 0.0175 0.0291
Colorectal cancer (CRC) [MIM:114500] (BRAF, MAP2K1) 2.903 0.00456 0.0291
Colorectal cancer (CRC) [MIM:114500] (BRAF, MAP2K2) 2.706 0.00675 0.0291
Colorectal cancer (CRC) [MIM:114500] (PIK3CA, PIK3R3) 2.030 0.0104 0.0291
Colorectal cancer (CRC) [MIM:114500] (PIK3R1, PIK3CA) 1.843 0.0165 0.0291
Cone-rod dystrophy All phenotypes (CRX, RHOXF2) 2.421 0.0348 0.154
All phenotypes (CRX, RAX2) 2.322 0.04 0.154
Cone-rod dystrophy 2 (CORD2) [MIM:120970] (CRX, RHOXF2) 2.421 0.0348 0.0576
Cone-rod dystrophy 2 (CORD2) [MIM:120970] (CRX, RAX2) 2.322 0.04 0.0576
Congenital heart defects All phenotypes (HERC2, CDC42) 4.992 0.0314 0.254
All phenotypes (SMARCA4, CHD4) 2.471 0.0107 0.254
Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159] (SMARCA4, CHD4) 2.471 0.0107 0.0107
Takenouchi-Kosaki syndrome (TKS) [MIM:616737] (HERC2, CDC42) 4.992 0.0314 0.252
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
Creutzfeldt-Jakob disease Creutzfeldt-Jakob disease (CJD) [MIM:123400] (PRNP, PRNP) 0.912 0.012 0.012
Crigler-Najjar syndrome All phenotypes (UGT1A1, UGT1A1) 1.800 9.36e-5 0.00025
All phenotypes (UGT1A1, UGT1A10) 1.800 9.36e-5 0.00025
All phenotypes (UGT1A1, UGT1A8) 1.800 9.36e-5 0.00025
All phenotypes (UGT1A1, UGT1A3) 1.674 0.000423 0.000484
All phenotypes (UGT1A1, UGT1A4) 1.674 0.000423 0.000484
All phenotypes (UGT1A1, UGT1A7) 1.674 0.000423 0.000484
All phenotypes (UGT1A6, UGT1A1) 1.674 0.000423 0.000484
All phenotypes (UGT1A9, UGT1A1) 1.499 0.00207 0.00207
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A1) 2.144 0.000221 0.000589
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A10) 2.144 0.000221 0.000589
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A8) 2.144 0.000221 0.000589
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] (UGT1A1, UGT1A7) 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) 1.692 0.00808 0.00808
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A1) 1.821 0.0025 0.00286
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A10) 1.821 0.0025 0.00286
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A3) 1.821 0.0025 0.00286
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A4) 1.821 0.0025 0.00286
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A7) 1.821 0.0025 0.00286
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A8) 1.821 0.0025 0.00286
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A6, UGT1A1) 1.821 0.0025 0.00286
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A9, UGT1A1) 1.561 0.0129 0.0129
Crouzon syndrome All phenotypes (FGFR3, FGFR3) 4.327 0.0498 0.435
Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247] (FGFR3, FGFR3) 4.327 0.0498 0.0498
Cutis laxa All phenotypes (PYCR1, PYCR1) 0.810 0.0459 0.183
Deafness All phenotypes (AIFM1, AIFM1) 3.804 0.00732 0.132
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) 0.657 0.0312 0.281
Frontotemporal dementia (FTD) [MIM:600274] (MAPT, MAPT) 0.657 0.0312 0.0937
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 (ABCC9, KCNJ11) 0.976 0.0417 0.125
All phenotypes (INS, INSR) 0.812 0.00917 0.0385
All phenotypes (INS, INS) 0.737 0.00135 0.0128
All phenotypes (KCNJ11, KCNJ11) 0.674 0.00183 0.0128
All phenotypes (INS, IDE) 0.664 0.00692 0.0364
Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] (INSR, SH2B1) 5.281 0.0255 0.0425
Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] (SH2B2, INSR) 5.281 0.0255 0.0425
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) 0.905 0.00375 0.0113
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) 2.355 0.0382 0.267
Dystonia, DOPA-responsive, due to sepiapterin reductase deficiency (DRDSPRD) [MIM:612716] (SPR, SPR) 2.355 0.0382 0.0382
Ectrodactyly-ectodermal dysplasia Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] (PPP1R13L, TP63) 3.775 1.63e-13 1.63e-13
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] (TP53BP2, TP63) 3.775 1.63e-13 1.63e-13
Ehlers-Danlos syndrome 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) 3.364 0.000237 0.000237
Epidermolysis bullosa All phenotypes (KRT14, BFSP2) 0.694 0.0438 0.114
All phenotypes (KRT14, KRT72) 0.694 0.0438 0.114
All phenotypes (KRT14, KRT78) 0.694 0.0438 0.114
All phenotypes (KRT14, KRT80) 0.694 0.0438 0.114
All phenotypes (KRT14, KRT1) 0.685 0.0259 0.114
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT1) 0.948 0.0194 0.172
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT5) 0.857 0.017 0.172
Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT1, KRT10) 0.987 0.00419 0.0639
Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT1, KRT39) 0.868 0.0495 0.0639
Epilepsy All phenotypes (STX1B, NAPB) 3.337 0.00979 0.12
All phenotypes (SNAP23, STX1B) 2.823 0.02 0.12
All phenotypes (STX1B, STX4) 2.590 0.0276 0.121
All phenotypes (GABRG2, GABRB3) 1.925 0.0183 0.12
All phenotypes (SCN1A, FGF12) 1.692 0.0217 0.12
All phenotypes (CHRNB2, CHRNA4) 1.096 0.0479 0.176
Generalized epilepsy with febrile seizures plus 2 (GEFS+2) [MIM:604403] (SCN1A, FGF12) 2.085 0.0192 0.0192
Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] (STX1B, NAPB) 3.337 0.00979 0.0368
Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] (SNAP23, STX1B) 2.823 0.02 0.0368
Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] (STX1B, STX4) 2.590 0.0276 0.0368
Epileptic encephalopathy All phenotypes (USP8, YWHAG) 2.874 0.0186 0.332
All phenotypes (YWHAG, BAIAP2) 2.561 0.0287 0.332
All phenotypes (GABRA1, GABRB3) 0.790 0.0275 0.332
Epileptic encephalopathy, early infantile, 56 (EIEE56) [MIM:617665] (USP8, YWHAG) 2.874 0.0186 0.129
Epileptic encephalopathy, early infantile, 56 (EIEE56) [MIM:617665] (YWHAG, BAIAP2) 2.561 0.0287 0.129
Erythrocytosis All phenotypes (VHL, EPAS1) 4.818 4.51e-6 3.16e-5
All phenotypes (EGLN2, EPAS1) 4.555 9.28e-6 3.25e-5
All phenotypes (EPAS1, EGLN1) 3.310 0.00263 0.00613
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (VHL, EPAS1) 4.818 4.51e-6 1.8e-5
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EGLN2, EPAS1) 4.555 9.28e-6 1.86e-5
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 0.000541
Costello syndrome (CSTLO) [MIM:218040] (HRAS, NF1) 1.717 0.000185 0.000541
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RASGRF1) 1.681 0.000227 0.000541
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RIN1) 1.640 0.00262 0.00393
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RASGRP4) 1.373 0.00339 0.00436
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RGL1) 1.309 0.00458 0.00458
Costello syndrome (CSTLO) [MIM:218040] (RGL2, HRAS) 1.309 0.00458 0.00458
Costello syndrome (CSTLO) [MIM:218040] (HRAS, SOS2) 1.205 0.0003 0.000541
Costello syndrome (CSTLO) [MIM:218040] (HRAS, SOS1) 0.975 0.000301 0.000541
Familial advanced sleep-phase syndrome Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224] (CSNK1D, CCNA1) 3.467 0.00817 0.00817
Fanconi anemia All phenotypes (BRCA1, ATRIP) 4.723 0.0379 0.139
All phenotypes (BRCA1, BRAT1) 4.723 0.0379 0.139
All phenotypes (BRCA2, SEM1) 2.910 0.0177 0.139
Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] (BRCA2, SEM1) 2.910 0.0177 0.0177
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) 2.621 0.0101 0.0302
Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] (FKBP1A, ACVR1) 2.135 0.0251 0.0377
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) 3.289 0.0165 0.0165
Focal segmental glomerulosclerosis All phenotypes (ACTN4, IQGAP1) 5.018 8.31e-5 0.000416
Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] (ACTN4, IQGAP1) 5.018 8.31e-5 0.000332
Frontometaphyseal dysplasia Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137] (MAP3K7, TNIK) 2.331 0.00784 0.0235
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 0.000611
Gastric cancer (GASC) [MIM:613659] (KRAS, SOS1) 2.113 0.000153 0.000305
Glanzmann thrombasthenia Glanzmann thrombasthenia (GT) [MIM:273800] (FGG, ITGB3) 3.546 0.000365 0.00292
Glanzmann thrombasthenia (GT) [MIM:273800] (FN1, ITGB3) 2.256 0.00927 0.0371
Glioma Glioma (GLM) [MIM:137800] (H3F3A, SETD2) 2.791 0.026 0.147
Glutaric aciduria All phenotypes (ETFA, ETFB) 1.299 0.0413 0.124
Growth hormone insensitivity All phenotypes (JAK1, STAT5B) 4.715 0.0377 0.0754
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] (CSNK2B, CSNK2A1) 2.535 0.0397 0.0992
Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] (CSNK2A1, CDK11A) 2.476 0.0088 0.044
Hemolytic uremic syndrome All phenotypes (C3, CR2) 3.452 0.000314 0.00141
All phenotypes (C3, CD46) 2.435 0.0165 0.0494
All phenotypes (C3, CFH) 1.590 0.000105 0.000943
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3, CR2) 3.452 0.000314 0.000786
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3, CD46) 3.001 0.0246 0.041
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3, CFH) 2.551 0.000168 0.000786
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) 4.521 0.00248 0.0298
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, GRB7) 4.521 0.00248 0.0298
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, KDR) 3.497 0.01 0.0804
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) 1.634 0.0124 0.111
All phenotypes (RET, RET) 0.924 0.0262 0.118
Hirschsprung disease 1 (HSCR1) [MIM:142623] (RET, GRB10) 1.634 0.0124 0.0991
Hirschsprung disease 1 (HSCR1) [MIM:142623] (RET, RET) 0.924 0.0262 0.105
Hutchinson-Gilford progeria syndrome Hutchinson-Gilford progeria syndrome (HGPS) [MIM:176670] (BANF1, LMNA) 3.657 0.00809 0.00809
Hypercholesterolemia All phenotypes (, PCSK9) 2.633 0.0102 0.051
All phenotypes (LDLR, APOH) 1.520 0.0312 0.0639
All phenotypes (LDLR, PCSK9) 1.160 0.0383 0.0639
Familial hypercholesterolemia (FH) [MIM:143890] (LDLR, APOH) 1.520 0.0312 0.125
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 Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) [MIM:147060] (STAT3, STAT2) 2.058 0.0127 0.165
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
Hypocalcemia All phenotypes (CASR, CASR) 1.057 0.00374 0.00749
Hyperaldosteronism, familial, 3 (HALD3) [MIM:613677] (KCNJ5, KCNJ15) 1.082 0.0235 0.0235
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 Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] (FGFR1, ERBB3) 1.099 0.0437 0.261
Hypomyelination with brainstem and spinal cord involvement and leg spasticity Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] (DARS, DARS) 1.637 0.00879 0.00879
Immunodeficiency All phenotypes (UBC, IKBKG) 2.368 0.0457 0.684
Immunodeficiency 31A (IMD31A) [MIM:614892] (STAT1, STAT1) 1.734 0.044 0.176
Immunodeficiency 33 (IMD33) [MIM:300636] (UBC, IKBKG) 2.953 0.0167 0.0501
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) 0.753 0.039 0.117
Incontinentia pigmenti Incontinentia pigmenti (IP) [MIM:308300] (UBC, IKBKG) 1.953 0.0318 0.159
Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) [MIM:123150] (FGF1, FGFR1) 4.347 0.0492 0.178
Juvenile polyposis All phenotypes (BMPR1A, BMPR1A) 2.944 0.0259 0.166
Juvenile polyposis syndrome (JPS) [MIM:174900] (BMPR1A, BMPR1A) 2.944 0.0259 0.0935
Keratinocytic non-epidermolytic nevus Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, RIN1) 2.296 0.00844 0.0601
Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, RASA1) 2.214 0.01 0.0601
Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, RGL3) 1.860 0.0209 0.0836
Keratitis-ichthyosis-deafness syndrome 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, PYCARD) 4.951 0.0323 0.0647
Keratosis Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3CA, PIK3R3) 2.615 0.00666 0.0291
Keratosis, seborrheic (KERSEB) [MIM:182000] (FGFR3, FGFR3) 2.520 0.0441 0.0882
Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3R1, PIK3CA) 2.428 0.00969 0.0291
Leber congenital amaurosis All phenotypes (DAPK1, TUBB4B) 4.664 0.00156 0.00311
Leber congenital amaurosis with early-onset deafness (LCAEOD) [MIM:617879] (DAPK1, TUBB4B) 4.664 0.00156 0.00156
Leber optic neuropathy All phenotypes (MT-ND1, MT-ND6) 2.203 0.00143 0.0086
Leber hereditary optic neuropathy (LHON) [MIM:535000] (MT-ND1, MT-ND6) 1.951 0.0292 0.146
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) 2.750 0.00196 0.0157
LEOPARD syndrome 1 (LPRD1) [MIM:151100] (ERBB2, PTPN11) 2.750 0.00196 0.00196
Leukemia Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (MET, PTPN11) 4.497 8.28e-8 3.73e-7
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (GRB2, PTPN11) 3.001 5.53e-8 3.73e-7
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (PTPN11, GRB7) 2.612 0.000716 0.00215
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (NRAS, RASA1) 2.214 0.0465 0.0697
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (ERBB2, PTPN11) 2.197 0.0242 0.0436
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (KRAS, SOS1) 2.113 0.0124 0.0278
Leukodystrophy with vanishing white matter Leukodystrophy with vanishing white matter (VWM) [MIM:603896] (EIF2B5, EIF2B4) 2.922 0.00187 0.00468
Leukodystrophy with vanishing white matter (VWM) [MIM:603896] (EIF2B2, EIF2B5) 1.874 0.00105 0.00468
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 0.00239
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, PPP1R13L) 1.512 0.00035 0.00239
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, BCL2L1) 1.006 0.0156 0.047
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, BCL2) 0.988 0.0222 0.047
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53BP1) 0.866 0.0198 0.047
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53) 0.385 0.0256 0.047
Lissencephaly with microcephaly Lissencephaly 6, with microcephaly (LIS6) [MIM:616212] (KATNB1, KATNAL1) 2.187 0.0482 0.0508
Loeys-Dietz syndrome All phenotypes (SMAD3, SMAD4) 1.953 0.0291 0.174
Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] (SMAD3, SMAD4) 1.953 0.0291 0.0582
Long QT syndrome All phenotypes (KCNJ18, KCNJ2) 1.067 0.000612 0.0165
Long QT syndrome 7 (LQT7) [MIM:170390] (KCNJ18, KCNJ2) 1.067 0.000612 0.00122
Lung cancer Lung cancer (LNCR) [MIM:211980] (BRAF, PAK2) 3.605 0.00676 0.0116
Lung cancer (LNCR) [MIM:211980] (BRAF, MAPK3) 3.505 0.00776 0.0116
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, NCK1) 6.500 3.94e-10 5.12e-9
Mastocytosis, cutaneous (MASTC) [MIM:154800] (BCAR3, KIT) 6.371 6.23e-8 1.62e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, GRB2) 6.371 6.23e-8 1.62e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, RASA1) 6.371 6.23e-8 1.62e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, SLA2) 6.178 1.2e-9 7.79e-9
Mastocytosis, cutaneous (MASTC) [MIM:154800] (NCK2, KIT) 6.178 1.06e-7 2.3e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (GRAP2, KIT) 6.008 1.7e-7 2.76e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, VAV3) 6.008 1.7e-7 2.76e-7
Mastocytosis, cutaneous (MASTC) [MIM:154800] (KIT, SH2B3) 5.719 3.77e-7 5.45e-7
Mastocytosis, systemic (MASTSYS) [MIM:154800] (BCAR3, KIT) 6.956 6.49e-5 0.000138
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, GRB2) 6.956 6.49e-5 0.000138
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, RASA1) 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] (NCK2, KIT) 6.763 8.48e-5 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, SLA2) 6.441 0.000132 0.000149
Mastocytosis, systemic (MASTSYS) [MIM:154800] (KIT, SH2B3) 6.304 0.00016 0.00016
McCune-Albright syndrome McCune-Albright syndrome (MAS) [MIM:174800] (GNB1, GNAS) 2.662 0.00395 0.00789
McCune-Albright syndrome (MAS) [MIM:174800] (GNAS, GNAS) 1.772 0.0251 0.0251
Medullary thyroid carcinoma Medullary thyroid carcinoma (MTC) [MIM:155240] (RET, PTK2) 2.769 0.0331 0.116
Medullary thyroid carcinoma (MTC) [MIM:155240] (EGFR, RET) 2.471 0.00399 0.0279
Medulloblastoma Medulloblastoma (MDB) [MIM:155255] (HLA-A, CTNNB1) 5.975 0.000253 0.000612
Medulloblastoma (MDB) [MIM:155255] (CTNNB1, FBXW11) 5.837 0.000306 0.000612
Melanoma All phenotypes (CDK4, CDKN2C) 3.064 0.0181 0.117
All phenotypes (CDK4, CDKN2D) 2.604 0.0334 0.126
All phenotypes (CDK4, CDKN2B) 2.327 0.0483 0.126
All phenotypes (CDK4, CDKN2A) 1.145 0.000899 0.0117
All phenotypes (CDKN2A, ANKRA2) 0.986 0.0426 0.126
Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] (CDKN2A, ANKRA2) 0.986 0.0426 0.096
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2C) 3.064 0.0181 0.151
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2D) 2.604 0.0334 0.151
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2B) 2.327 0.0483 0.151
Melanosis, neurocutaneous Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, RAP1GDS1) 3.477 0.00807 0.0323
Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, RIN1) 2.296 0.0415 0.062
Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, RASA1) 2.214 0.0465 0.062
Mental retardation All phenotypes (CASK, CDK9) 4.871 0.0342 0.18
All phenotypes (TRIO, RAC1) 3.544 2.16e-5 0.000465
All phenotypes (PPP2R1A, PPP2R5C) 3.392 0.0128 0.11
All phenotypes (CAMK2B, CAMK2N2) 3.068 0.0037 0.0398
All phenotypes (PPP2R1A, PPP2R5B) 3.057 0.00273 0.0336
All phenotypes (PPP2R1A, CDC6) 2.676 0.033 0.18
All phenotypes (PPP2R1A, PPP2R3B) 2.676 0.033 0.18
All phenotypes (PPP2R1A, PPP2R5D) 2.615 0.0358 0.18
All phenotypes (PPP2R1A, PPP2R2A) 2.556 0.0386 0.18
All phenotypes (PPP2R1A, PPP2R5A) 2.527 0.0401 0.18
All phenotypes (GNAI2, GNB1) 2.522 1.0e-6 8.6e-5
All phenotypes (GNAO1, GNB1) 2.492 5.92e-6 0.00017
All phenotypes (PPP2R1A, PPP2R2B) 2.472 0.0431 0.18
All phenotypes (PPP2R1A, PPP2R5E) 2.472 0.0431 0.18
All phenotypes (GNB1, GNAS) 2.168 2.2e-6 9.47e-5
All phenotypes (RAC1, NGEF) 2.061 0.026 0.18
All phenotypes (RAC1, PKN1) 1.941 0.0325 0.18
All phenotypes (GRK2, GNB1) 1.918 0.000448 0.00642
All phenotypes (SMS, SMS) 1.902 0.0087 0.0832
All phenotypes (GNB1, GNAI1) 1.898 5.23e-5 0.000899
All phenotypes (RAC1, ARHGEF19) 1.778 0.044 0.18
All phenotypes (VAV1, RAC1) 1.727 0.0482 0.188
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] (CASK, CDK9) 4.871 0.0342 0.0565
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5C) 3.392 0.0128 0.0431
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5B) 3.057 0.00273 0.0246
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, CDC6) 2.676 0.033 0.0431
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R3B) 2.676 0.033 0.0431
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5D) 2.615 0.0358 0.0431
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R2A) 2.556 0.0386 0.0431
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5A) 2.527 0.0401 0.0431
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R2B) 2.472 0.0431 0.0431
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5E) 2.472 0.0431 0.0431
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNAI2, GNB1) 2.522 1.0e-6 1.4e-5
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNAO1, GNB1) 2.492 5.92e-6 2.76e-5
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNB1, GNAS) 2.168 2.2e-6 1.54e-5
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GRK2, GNB1) 1.918 0.000448 0.00125
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNB1, GNAI1) 1.898 5.23e-5 0.000183
Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061] (TRIO, RAC1) 4.725 0.00143 0.00143
Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] (RAC1, NGEF) 2.061 0.026 0.191
Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] (RAC1, PKN1) 1.941 0.0325 0.191
Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] (TRIO, RAC1) 1.830 0.0399 0.191
Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] (RAC1, ARHGEF19) 1.778 0.044 0.191
Mental retardation, autosomal dominant 48 (MRD48) [MIM:617751] (VAV1, RAC1) 1.727 0.0482 0.191
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) 1.500 0.000218 0.000218
Mirror movements Mirror movements 1 (MRMV1) [MIM:157600] (DCC, NTN4) 5.125 0.000821 0.00164
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 (NDUFS8, NDUFS1) 4.617 0.0403 0.306
All phenotypes (UQCRC2, UQCRC2) 4.463 0.0453 0.306
All phenotypes (MT-ND3, NDUFA9) 2.676 0.0304 0.306
All phenotypes (MT-ND1, MT-ND3) 1.588 0.0122 0.306
Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] (NDUFS8, NDUFS1) 4.617 0.0403 0.282
Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] (MT-ND3, NDUFA9) 2.676 0.0304 0.282
Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] (MT-ND1, MT-ND3) 1.588 0.0122 0.257
Mitochondrial complex III deficiency, nuclear 5 (MC3DN5) [MIM:615160] (UQCRC2, UQCRC2) 4.463 0.0453 0.0453
Monilethrix Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT76) 0.919 0.0219 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT31) 0.868 0.0271 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT35) 0.868 0.0271 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT40) 0.868 0.0271 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT19) 0.842 0.0301 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT34) 0.842 0.0301 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT37) 0.842 0.0301 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT38) 0.842 0.0301 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT25) 0.818 0.0333 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT27) 0.818 0.0333 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT33B) 0.818 0.0333 0.142
Multiple neoplasia All phenotypes (MEN1, JUND) 1.184 0.00448 0.0403
All phenotypes (MEN1, KMT2A) 0.523 0.0455 0.205
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 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) 1.183 0.0277 0.222
Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] (GDF5, NOG) 1.183 0.0277 0.139
Myopathy All phenotypes (CRYAB, HSPB2) 3.129 0.0131 0.102
All phenotypes (CRYAB, HSPB8) 3.129 0.0131 0.102
All phenotypes (HRAS, RIN1) 2.003 0.0225 0.147
All phenotypes (HRAS, RASA1) 1.833 0.0314 0.164
All phenotypes (HRAS, NF1) 1.717 0.0393 0.18
All phenotypes (HRAS, RASGRF1) 1.681 0.0422 0.18
All phenotypes (DES, KRT20) 1.633 0.000114 0.00535
All phenotypes (KRT37, DES) 1.503 0.000268 0.0063
All phenotypes (DES, KRT33B) 1.416 0.00112 0.0152
All phenotypes (KRT75, DES) 1.390 0.00129 0.0152
All phenotypes (HRAS, SOS2) 1.330 0.025 0.147
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RIN1) 2.003 0.0225 0.141
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RASA1) 1.833 0.0314 0.141
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, NF1) 1.717 0.0393 0.141
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RASGRF1) 1.681 0.0422 0.141
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, SOS2) 1.330 0.025 0.141
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT20) 1.633 0.000114 0.000682
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT37, DES) 1.503 0.000268 0.000805
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT33B) 1.416 0.00112 0.00194
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT75, DES) 1.390 0.00129 0.00194
Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] (CRYAB, HSPB2) 3.129 0.0131 0.0327
Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] (CRYAB, HSPB8) 3.129 0.0131 0.0327
Myotonia congenita All phenotypes (CLCN1, CLCN1) 1.052 0.0186 0.0186
Myotonia congenita, autosomal dominant (MCAD) [MIM:160800] (CLCN1, CLCN1) 1.876 0.00156 0.00156
Neu-Laxova syndrome Neu-Laxova syndrome 1 (NLS1) [MIM:256520] (PHGDH, PHGDH) 2.875 0.0186 0.0186
Neuroblastoma Neuroblastoma 3 (NBLST3) [MIM:613014] (ALK, ALK) 0.918 0.0376 0.079
Neurodevelopmental disorder with involuntary movements Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] (GNAO1, PDE6G) 3.627 2.33e-6 3.49e-6
Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] (GNAO1, PDE6H) 3.627 2.33e-6 3.49e-6
Neurodevelopmental disorder with involuntary movements (NEDIM) [MIM:617493] (RGS10, GNAO1) 1.881 0.017 0.017
Neurofibromatosis All phenotypes (HRAS, NF1) 2.871 7.73e-7 2.32e-6
Neurofibromatosis 1 (NF1) [MIM:162200] (HRAS, NF1) 2.871 7.73e-7 1.55e-6
Neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] (HRAS, NF1) 3.788 2.74e-5 2.74e-5
Neuronopathy All phenotypes (CRYAB, HSPB8) 2.521 0.00167 0.0126
All phenotypes (HSPB2, HSPB8) 2.216 0.00378 0.0142
All phenotypes (HSPB6, HSPB8) 1.854 0.00987 0.0296
All phenotypes (HSPB7, HSPB8) 1.645 0.00334 0.0142
All phenotypes (HSPB1, HSPB8) 1.579 0.000678 0.0102
All phenotypes (HSPB8, HSPB8) 1.149 0.0186 0.0466
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (CRYAB, HSPB8) 2.521 0.00167 0.00757
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB2, HSPB8) 2.216 0.00378 0.00757
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB1, HSPB8) 1.854 0.00987 0.0118
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB6, HSPB8) 1.854 0.00987 0.0118
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB7, HSPB8) 1.645 0.00334 0.00757
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB8, HSPB8) 1.149 0.0186 0.0186
Neuronopathy, distal hereditary motor, 2B (HMN2B) [MIM:608634] (HSPB1, HSPB8) 1.408 0.0237 0.213
Noonan-like syndrome 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) 3.550 0.0103 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) 3.935 1.12e-7 4.24e-6
All phenotypes (RAF1, YWHAZ) 3.450 1.08e-6 6.2e-6
All phenotypes (RAF1, YWHAE) 3.177 5.39e-7 6.2e-6
All phenotypes (RAF1, YWHAQ) 3.177 5.39e-7 6.2e-6
All phenotypes (RAF1, YWHAB) 3.128 6.99e-7 6.2e-6
All phenotypes (RAF1, YWHAH) 3.081 8.97e-7 6.2e-6
All phenotypes (RAF1, YWHAG) 3.035 1.14e-6 6.2e-6
All phenotypes (AFDN, RIT1) 2.577 0.00869 0.033
All phenotypes (KRAS, ZDHHC17) 2.124 0.0256 0.0811
All phenotypes (KRAS, RALGDS) 1.802 0.046 0.134
All phenotypes (PTPN11, GRB7) 1.672 0.00155 0.00656
All phenotypes (GRB2, PTPN11) 1.627 0.000274 0.0013
All phenotypes (KRAS, SOS1) 1.435 0.0196 0.0676
Noonan syndrome 1 (NS1) [MIM:163950] (PTPN11, GRB7) 1.672 0.00155 0.00544
Noonan syndrome 1 (NS1) [MIM:163950] (GRB2, PTPN11) 1.627 0.000274 0.00192
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, ZDHHC17) 2.124 0.0256 0.0641
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, RALGDS) 1.802 0.046 0.0651
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, SOS1) 1.435 0.0196 0.0641
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, SFN) 3.935 1.12e-7 7.81e-7
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAZ) 3.450 1.08e-6 1.14e-6
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAE) 3.177 5.39e-7 1.14e-6
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAQ) 3.177 5.39e-7 1.14e-6
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAB) 3.128 6.99e-7 1.14e-6
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAH) 3.081 8.97e-7 1.14e-6
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAG) 3.035 1.14e-6 1.14e-6
Noonan syndrome 8 (NS8) [MIM:615355] (AFDN, RIT1) 2.577 0.00869 0.0261
Obesity Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886] (NTRK2, SH2B1) 5.739 0.0187 0.0374
Orofacial cleft All phenotypes (KDM1A, SNAI1) 4.438 9.82e-5 0.000445
All phenotypes (KDM1A, INSM1) 4.348 0.000118 0.000445
All phenotypes (KDM1A, HIST3H3) 4.183 0.000167 0.000445
All phenotypes (KDM1A, HIST1H3A) 3.966 0.000262 0.000524
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, HIST1H3A) 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) 5.975 0.0159 0.0587
Ovarian cancer (OC) [MIM:167000] (CTNNB1, FBXW11) 5.837 0.0175 0.0587
Ovarian cancer (OC) [MIM:167000] (BRCA1, BRIP1) 2.816 0.0252 0.0587
Pachyonychia congenita All phenotypes (KRT6A, LMNA) 1.103 0.00402 0.073
All phenotypes (KRT6A, KRT13) 0.880 0.0135 0.073
All phenotypes (KRT6A, KRT28) 0.880 0.0135 0.073
All phenotypes (KRT34, KRT6A) 0.855 0.0154 0.073
All phenotypes (KRT6A, KRT19) 0.855 0.0154 0.073
All phenotypes (KRT36, KRT6A) 0.830 0.0176 0.073
All phenotypes (KRT6A, KRT18) 0.830 0.0176 0.073
All phenotypes (KRT6A, KRT26) 0.830 0.0176 0.073
All phenotypes (KRT6A, KRT35) 0.830 0.0176 0.073
All phenotypes (KRT38, KRT6A) 0.805 0.02 0.073
All phenotypes (KRT6A, KRT27) 0.805 0.02 0.073
All phenotypes (KRT6A, KRT40) 0.805 0.02 0.073
All phenotypes (KRT6A, KRT17) 0.804 0.0172 0.073
All phenotypes (KRT6A, KRT31) 0.781 0.0227 0.0773
All phenotypes (KRT6A, KRT16) 0.776 0.02 0.073
All phenotypes (KRT6A, KRT15) 0.763 0.0452 0.144
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, LMNA) 1.103 0.00402 0.0284
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT13) 0.880 0.0135 0.0284
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT28) 0.880 0.0135 0.0284
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT34, KRT6A) 0.855 0.0154 0.0284
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT19) 0.855 0.0154 0.0284
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT36, KRT6A) 0.830 0.0176 0.0284
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT18) 0.830 0.0176 0.0284
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT26) 0.830 0.0176 0.0284
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT35) 0.830 0.0176 0.0284
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT38, KRT6A) 0.805 0.02 0.0284
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT27) 0.805 0.02 0.0284
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT40) 0.805 0.02 0.0284
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT31) 0.781 0.0227 0.0297
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT15) 0.763 0.0452 0.0512
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT17) 0.763 0.0452 0.0512
Palmoplantar keratoderma All phenotypes (GJB2, GJA8) 1.733 0.0136 0.461
Keratoderma, palmoplantar, with deafness (PPKDFN) [MIM:148350] (GJB2, GJA8) 1.733 0.0136 0.0271
Parkinson disease All phenotypes (PLA2G6, PLA2G6) 2.385 0.0367 0.431
Parkinson disease 14 (PARK14) [MIM:612953] (PLA2G6, PLA2G6) 2.385 0.0367 0.0367
Periventricular heterotopia 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) 2.425 0.0347 0.0347
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] (FGF1, FGFR1) 4.347 0.0492 0.199
Pheochromocytoma Pheochromocytoma (PCC) [MIM:171300] (RET, LRRK1) 5.032 0.0306 0.236
Pheochromocytoma (PCC) [MIM:171300] (RET, MAPK3) 5.032 0.0306 0.236
Pheochromocytoma (PCC) [MIM:171300] (RET, MAPK1) 4.818 0.0355 0.236
Piebaldism Piebald trait (PBT) [MIM:172800] (LCK, KIT) 2.797 0.0319 0.132
Piebald trait (PBT) [MIM:172800] (KIT, KIT) 1.320 0.0329 0.132
Pilomatrixoma Pilomatrixoma (PTR) [MIM:132600] (HLA-A, CTNNB1) 5.975 2.57e-13 7.5e-13
Pilomatrixoma (PTR) [MIM:132600] (CTNNB1, FBXW11) 5.837 5.0e-13 7.5e-13
Pilomatrixoma (PTR) [MIM:132600] (CTNNB1, BTRC) 4.905 9.82e-5 9.82e-5
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 0.00605
Pseudohypoaldosteronism All phenotypes (KLHL2, WNK4) 4.853 4.14e-5 0.000166
All phenotypes (WNK4, KLHL3) 2.927 4.33e-7 3.47e-6
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 0.00145
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (WNK3, KLHL3) 2.230 0.000576 0.00145
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (KEAP1, KLHL3) 2.173 0.000726 0.00145
Pseudohypoparathyroidism Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] (GNAS, ADCY2) 2.423 0.049 0.147
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GLP1R, GNAS) 4.200 0.00296 0.00567
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (GNAS, CALCRL) 4.133 0.00325 0.00567
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (CALCR, GNAS) 3.949 0.00419 0.00567
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (ADORA2A, GNAS) 3.892 0.00454 0.00567
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 0.151
Rabson-Mendenhall syndrome (RMS) [MIM:262190] (INSR, IRS1) 2.474 0.049 0.151
Radioulnar synostosis with amegakaryocytic thrombocytopenia Thrombocytopenia 6 (THC6) [MIM:616937] (SRC, PTPN1) 6.016 0.0155 0.0618
Renal cell carcinoma All phenotypes (MET, PLCG2) 5.258 1.4e-7 6.53e-7
All phenotypes (MET, SH2B1) 4.968 3.76e-7 9.78e-7
All phenotypes (SH2B2, MET) 4.968 3.76e-7 9.78e-7
All phenotypes (MET, SH2B3) 4.843 5.77e-7 1.25e-6
All phenotypes (MET, TXK) 2.873 7.6e-8 6.53e-7
All phenotypes (MET, TEC) 2.769 1.51e-7 6.53e-7
All phenotypes (MET, ITK) 2.319 0.00226 0.00368
All phenotypes (MET, BTK) 2.167 0.00123 0.00228
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, PLCG2) 5.258 1.4e-7 6.03e-7
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SH2B1) 4.968 3.76e-7 9.03e-7
Renal cell carcinoma papillary (RCCP) [MIM:605074] (SH2B2, MET) 4.968 3.76e-7 9.03e-7
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SH2B3) 4.843 5.77e-7 1.15e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, TXK) 2.873 7.6e-8 6.03e-7
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, TEC) 2.769 1.51e-7 6.03e-7
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, ITK) 2.319 0.00226 0.00339
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, BTK) 2.167 0.00123 0.00211
Retinitis pigmentosa All phenotypes (PRPF6, PRPF6) 4.892 0.0337 0.202
All phenotypes (PRPF3, PRPF8) 4.750 0.00138 0.0124
All phenotypes (SNRNP200, PRPF8) 2.751 0.000669 0.0121
Retinitis pigmentosa 13 (RP13) [MIM:600059] (SNRNP200, PRPF8) 4.062 5.11e-5 5.11e-5
Retinitis pigmentosa 18 (RP18) [MIM:601414] (PRPF3, PRPF8) 4.750 0.00138 0.00138
Retinitis pigmentosa 60 (RP60) [MIM:613983] (PRPF6, PRPF6) 4.892 0.0337 0.0337
Richieri-Costa-Pereira syndrome Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305] (EIF4A3, UPF3B) 4.911 0.0332 0.0665
Rickets Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] (VDR, NR0B2) 1.862 0.0457 0.229
Scalp-ear-nipple syndrome Scalp-ear-nipple syndrome (SENS) [MIM:181270] (KCTD1, KCTD1) 0.821 0.0332 0.0332
Shprintzen-Goldberg craniosynostosis syndrome Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] (SKI, SMAD2) 3.402 6.29e-12 1.19e-11
Shprintzen-Goldberg craniosynostosis syndrome (SGS) [MIM:182212] (SKI, SMAD3) 3.324 1.19e-11 1.19e-11
Sialuria Sialuria (SIALURIA) [MIM:269921] (GNE, GNE) 2.356 0.00745 0.00745
Spinal muscular atrophy All phenotypes (DYNC1I2, DYNC1H1) 3.193 0.0185 0.0646
All phenotypes (SMN1, SMN1) 2.091 0.00451 0.0316
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
Split-hand/foot malformation Split-hand/foot malformation 4 (SHFM4) [MIM:605289] (PPP1R13L, TP63) 3.660 0.00805 0.0121
Split-hand/foot malformation 4 (SHFM4) [MIM:605289] (TP53BP2, TP63) 3.660 0.00805 0.0121
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) 1.611 0.000837 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, KCNC1) 3.373 0.000898 0.0027
Thanatophoric dysplasia All phenotypes (FGFR3, FGFR3) 2.520 0.0441 0.132
Thanatophoric dysplasia 1 (TD1) [MIM:187600] (FGFR3, FGFR3) 2.742 0.0326 0.0983
Thanatophoric dysplasia 1 (TD1) [MIM:187600] (FGF1, FGFR3) 2.420 0.0492 0.0983
Thyroid dyshormonogenesis All phenotypes (THRB, NCOA2) 1.854 0.0238 0.19
Generalized thyroid hormone resistance (GTHR) [MIM:188570] (THRB, NCOA2) 1.945 0.0193 0.135
Trichothiodystrophy All phenotypes (ERCC2, GTF2H2C) 3.008 0.00123 0.00369
All phenotypes (ERCC2, GTF2H2) 2.735 0.00246 0.00369
Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] (ERCC2, GTF2H2C) 3.008 0.00123 0.00246
Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] (ERCC2, GTF2H2) 2.735 0.00246 0.00246
Usher syndrome Usher syndrome 1D/F (USH1DF) [MIM:601067] (CDH23, USH1C) 5.009 0.0311 0.0311
Verheij syndrome Verheij syndrome (VRJS) [MIM:615583] (HNRNPA3, PUF60) 4.375 0.0482 0.0482
Von Hippel-Lindau disease Von Hippel-Lindau disease (VHLD) [MIM:193300] (VHL, ELOC) 0.705 0.00134 0.00939
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) 3.940 0.00719 0.0359
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
Zimmermann-Laband syndrome Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] (KCNH1, KCNB1) 2.570 0.00983 0.0215
Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] (KCNH1, KCNC1) 2.373 0.0144 0.0215

[Show all]

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