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Top 10 diseases (for # mutations)
Top 10 diseases Muts Prots Ints
Hemophilia 610 2 14
Mucopolysaccharidosis 534 11 9
Epileptic encephalopathy 481 35 174
Cardiomyopathy 475 43 756
Charcot-Marie-Tooth disease 391 40 470
Long QT syndrome 358 13 138
Retinitis pigmentosa 342 54 308
Marfan syndrome 321 1 15
Deafness 301 59 392
Glycogen storage disease 293 17 67
Top 10 proteins (for # mutations)
Top 10 proteins Uniprot AC Muts Diseases Ints
F8 P00451 472 1 9
FBN1 P35555 352 5 17
PAH P00439 206 2 3
MYH7 P12883 200 3 11
ATP7B P35670 195 1 5
GJB1 P08034 188 2 2
GLA P06280 177 1 3
AR P10275 158 1 156
SCN5A Q14524 154 9 14
NPC1 O15118 151 1 2
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
Acne Acne inversa, familial, 1 (ACNINV1) [MIM:142690] NCSTN
Acrodysostosis Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] PRKAR1A
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
Adrenocortical insufficiency without ovarian defect Adrenocortical insufficiency, without ovarian defect (ACIWOD) [MIM:184757] NR5A1
Afibrinogenemia Congenital afibrinogenemia (CAFBN) [MIM:202400] FGA, FGG, FGB
Agammaglobulinemia Agammaglobulinemia 2, autosomal recessive (AGM2) [MIM:613500] IGLL1
X-linked agammaglobulinemia (XLA) [MIM:300755] BTK
Age-related macular degeneration Macular degeneration, age-related, 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
Alzheimer disease Alzheimer disease 1 (AD1) [MIM:104300] APP
Amelogenesis imperfecta Amelogenesis imperfecta 1H (AI1H) [MIM:616221] ITGB6
Amyloidosis Amyloidosis 8 (AMYL8) [MIM:105200] B2M, APOA1
Amyotrophic lateral sclerosis 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 20 (ALS20) [MIM:615426] HNRNPA1
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS
Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG
Aniridia Aniridia (AN) [MIM:106210] PAX6
Apert syndrome Apert syndrome (APRS) [MIM:101200] FGFR2
Asplenia Asplenia, isolated congenital (ICAS) [MIM:271400] RPSA
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
Caspase-8 deficiency (CASP8D) [MIM:607271] CASP8
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
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 15 (BDPLT15) [MIM:615193] ACTN1
Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] ITGA2B, ITGB3
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 Cardiospondylocarpofacial syndrome (CSCF) [MIM:157800] MAP3K7
Camurati-Engelmann disease Camurati-Engelmann disease (CAEND) [MIM:131300] TGFB1
Candidiasis Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARD9
Cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF
Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] KRAS
Cardiofaciocutaneous syndrome 3 (CFC3) [MIM:615279] MAP2K1
Cardiomyopathy Cardiomyopathy, dilated 1A (CMD1A) [MIM:115200] LMNA
Cardiomyopathy, dilated 1FF (CMD1FF) [MIM:613286] TNNI3
Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] BAG3
Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184] CRYAB
Cardiomyopathy, dilated 1NN (CMD1NN) [MIM:615916] RAF1
Cardiomyopathy, dilated 1W (CMD1W) [MIM:611407] VCL
Cardiomyopathy, dilated 1Z (CMD1Z) [MIM:611879] TNNC1
Cardiomyopathy, familial hypertrophic 3 (CMH3) [MIM:115196] TPM1
Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197] MYBPC3
Cardiomyopathy, familial hypertrophic 6 (CMH6) [MIM:600858] PRKAG2
Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] TNNI3
Carney complex Carney complex 1 (CNC1) [MIM:160980] PRKAR1A
Cataract Cataract 17, multiple types (CTRCT17) [MIM:611544] CRYBB1
Cataract 30 (CTRCT30) [MIM:116300] VIM
Central hypoventilation syndrome Congenital central hypoventilation syndrome (CCHS) [MIM:209880] RET
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
Cerebrooculofacioskeletal syndrome Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756] ERCC2
Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) [MIM:610758] ERCC1
Cervical cancer Cervical cancer (CERCA) [MIM:603956] FGFR3
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882] RAB7A
Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595] HSPB1
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
Chronic granulomatous disease Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710] NCF2
Coagulation factor deficiency Factor X deficiency (FA10D) [MIM:227600] F10
Factor XI deficiency (FA11D) [MIM:612416] F11
Coffin-Lowry syndrome Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3
Colorectal cancer Colorectal cancer (CRC) [MIM:114500] MLH1, CTNNB1, BRAF
Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] HRAS, NRAS
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 clubfoot Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) [MIM:119800] PITX1
Congenital heart defects Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159] CHD4
Takenouchi-Kosaki syndrome (TKS) [MIM:616737] CDC42
Corneal dystrophy Corneal dystrophy, Meesmann (MECD) [MIM:122100] KRT3
Corneal intraepithelial dyskeratosis and ectodermal dysplasia Corneal intraepithelial dyskeratosis and ectodermal dysplasia (CIDED) [MIM:615225] NLRP1
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
Cowden disease Cowden syndrome 1 (CWS1) [MIM:158350] PTEN
Craniosynostosis Craniosynostosis 3 (CRS3) [MIM:615314] TCF12
Trigonocephaly 1 (TRIGNO1) [MIM:190440] FGFR1
Crouzon syndrome Crouzon syndrome (CS) [MIM:123500] FGFR2
Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247] FGFR3
Cutis laxa Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100] FBLN5
Cyanosis Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2
Cystic fibrosis 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
Du Pan syndrome Du Pan syndrome (DPS) [MIM:228900] GDF5
Dysfibrinogenemia Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] FGA, FGG, FGB
Dystonia Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1
Dystonia, juvenile-onset (DJO) [MIM:607371] ACTB
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
Elliptocytosis Elliptocytosis 2 (EL2) [MIM:130600] SPTA1
Elliptocytosis 3 (EL3) [MIM:182870] SPTB
Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA
Encephalocraniocutaneous lipomatosis Encephalocraniocutaneous lipomatosis (ECCL) [MIM:613001] FGFR1
Enhanced S cone syndrome Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3
Epidermolysis bullosa Epidermolysis bullosa simplex, 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, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570] GRIN2A
Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] STX1B
Epileptic encephalopathy 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
Erythrocytosis Erythrocytosis, familial, 2 (ECYT2) [MIM:263400] VHL
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] EPAS1
Esophageal cancer Esophageal cancer (ESCR) [MIM:133239] TGFBR2
Estrogen resistance Estrogen resistance (ESTRR) [MIM:615363] ESR1
Faciocutaneoskeletal syndrome Costello syndrome (CSTLO) [MIM:218040] HRAS
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 O (FANCO) [MIM:613390] RAD51C
Fanconi anemia complementation group T (FANCT) [MIM:616435] UBE2T
Feingold syndrome Feingold syndrome 1 (FGLDS1) [MIM:164280] MYCN
Fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] ACVR1
Focal facial dermal dysplasia Focal facial dermal dysplasia 3, Setleis type (FFDD3) [MIM:227260] TWIST2
Focal segmental glomerulosclerosis Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] ACTN4
Fragile X syndrome Fragile X syndrome (FRAX) [MIM:300624] FMR1
Frontometaphyseal dysplasia Frontometaphyseal dysplasia 2 (FMD2) [MIM:617137] MAP3K7
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] STK11
Glanzmann thrombasthenia Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B, ITGB3
Glaucoma Glaucoma 1, open angle, E (GLC1E) [MIM:137760] OPTN
Glucocorticoid resistance 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
Hematopoiesis Cyclic haematopoiesis (CH) [MIM:162800] ELANE
Hemolytic uremic syndrome Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] C3
Hemophilia Hemophilia A (HEMA) [MIM:306700] F8
Hemorrhagic destruction of the brain with subependymal calcification and cataracts Hemorrhagic destruction of the brain with subependymal calcification and cataracts (HDBSCC) [MIM:613730] JAM3
Hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, 5 (HHT5) [MIM:615506] GDF2
Hepatocellular carcinoma Hepatocellular carcinoma (HCC) [MIM:114550] MET
Herpes simplex encephalitis 7 Herpes simplex encephalitis 7 (HSE7) [MIM:616532] IRF3
Hirschsprung disease Hirschsprung disease 1 (HSCR1) [MIM:142623] RET
Holt-Oram syndrome Holt-Oram syndrome (HOS) [MIM:142900] TBX5
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
Hyperparathyroidism Familial isolated hyperparathyroidism (FIHP) [MIM:145000] MEN1
Hyperphenylalaninemia Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910] GCH1
Hyperthyroxinemia, dystransthyretinemic Hyperthyroxinemia, dystransthyretinemic (DTTRH) [MIM:145680] TTR
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1
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
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 16 (IMD16) [MIM:615593] TNFRSF4
Immunodeficiency 20 (IMD20) [MIM:615707] FCGR3A
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 Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP
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
Keratinocytic non-epidermolytic nevus Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] FGFR3
Keratosis Keratosis, seborrheic (KERSEB) [MIM:182000] FGFR3
Lacrimo-auriculo-dento-digital syndrome Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] FGFR2
Leber congenital amaurosis Leber congenital amaurosis 7 (LCA7) [MIM:613829] CRX
Leopard syndrome LEOPARD syndrome 1 (LPRD1) [MIM:151100] PTPN11
LEOPARD syndrome 2 (LPRD2) [MIM:611554] RAF1
Leprechaunism Leprechaunism (LEPRCH) [MIM:246200] INSR
Leukemia Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] PTPN11, NRAS
Leukocyte adhesion deficiency Leukocyte adhesion deficiency 1 (LAD1) [MIM:116920] ITGB2
Li-Fraumeni syndrome Li-Fraumeni syndrome (LFS) [MIM:151623] TP53
Limb-girdle muscular dystrophy Limb-girdle muscular dystrophy 1B (LGMD1B) [MIM:159001] LMNA
Muscular dystrophy congenital LMNA-related (MDCL) [MIM:613205] LMNA
Lipodystrophy 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 14 (LQT14) [MIM:616247] CALM1
Long QT syndrome 15 (LQT15) [MIM:616249] CALM1
Lung cancer 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 B lipodystrophy (MADB) [MIM:608612] ZMPSTE24
Marfan syndrome Marfan syndrome (MFS) [MIM:154700] FBN1
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 1 (MPPH1) [MIM:603387] PIK3R2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MPPH2) [MIM:615937] AKT3
Meier-Gorlin syndrome Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] ORC1
Meier-Gorlin syndrome 2 (MGORS2) [MIM:613800] ORC4
Melanoma 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, X-linked 102 (MRX102) [MIM:300958] DDX3X
Mental retardation, X-linked, syndromic, 33 (MRXS33) [MIM:300966] TAF1
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] PPP2R1A
Mental retardation, autosomal dominant 38 (MRD38) [MIM:616393] EEF1A2
Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061] TRIO
Mental retardation, autosomal recessive 34 (MRT34) [MIM:614499] CRADD
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
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, congenital, with fiber-type disproportion (CFTD) [MIM:255310] TPM3
Myopathy, distal, 1 (MPD1) [MIM:160500] MYH7
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] DES
Myopathy, myosin storage, autosomal dominant (MSMA) [MIM:608358] MYH7
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
Neuroblastoma Neuroblastoma 3 (NBLST3) [MIM:613014] ALK
Neurofibromatosis Neurofibromatosis 2 (NF2) [MIM:101000] NF2
Neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] NF1
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
Neutrophil immunodeficiency syndrome 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-like syndrome Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] CBL
Obesity 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 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
Otopalatodigital syndrome Otopalatodigital syndrome 2 (OPD2) [MIM:304120] FLNA
Ovarian cancer Ovarian cancer (OC) [MIM:167000] CTNNB1, BRCA1
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
Parietal foramina Parietal foramina 1 (PFM1) [MIM:168500] MSX2
Parkinson disease Parkinson disease (PARK) [MIM:168600] PARK2
Parkinson disease 1 (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
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 Pheochromocytoma (PCC) [MIM:171300] VHL, RET
Phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1
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 (PKD2) [MIM:613095] PKD2
Pontocerebellar hypoplasia Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] EXOSC3
Pontocerebellar hypoplasia 1C (PCH1C) [MIM:616081] EXOSC8
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
Propionic acidemia Propionic acidemia type II (PA-2) [MIM:606054] PCCB
Prostate cancer Prostate cancer (PC) [MIM:176807] CHEK2
Pseudohypoaldosteronism Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2
Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] WNK4
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3
Pseudohypoparathyroidism Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] GNAS
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] GNAS
Pulmonary hypertension 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 (RP) [MIM:268000] CRX
Retinitis pigmentosa 10 (RP10) [MIM:180105] IMPDH1
Retinitis pigmentosa 13 (RP13) [MIM:600059] PRPF8
Retinitis pigmentosa 62 (RP62) [MIM:614181] MAK
Retinitis pigmentosa 72 (RP72) [MIM:616469] ZNF408
Retinoblastoma Childhood cancer retinoblastoma (RB) [MIM:180200] RB1
Richieri-Costa-Pereira syndrome Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305] EIF4A3
Rickets Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR
Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP
SHORT syndrome SHORT syndrome (SHORTS) [MIM:269880] PIK3R1
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
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
Sick sinus syndrome Sick sinus syndrome 1 (SSS1) [MIM:608567] SCN5A
Singleton-Merten syndrome Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298] DDX58
Speech-language disorder 1 Speech-language disorder 1 (SPCH1) [MIM:602081] FOXP2
Spinal muscular atrophy Spinal muscular atrophy 1 (SMA1) [MIM:253300] SMN1
Split-hand/foot malformation Split-hand/foot malformation 4 (SHFM4) [MIM:605289] TP63
Stormorken syndrome Stormorken syndrome (STRMK) [MIM:185070] STIM1
Sveinsson chorioretinal atrophy Sveinsson chorioretinal atrophy (SCRA) [MIM:108985] TEAD1
Symphalangism Symphalangism, proximal 1B (SYM1B) [MIM:615298] GDF5
Tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome (TCC) [MIM:186570] NOG
Tatton-Brown-Rahman syndrome 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
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
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
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 variant type (XPV) [MIM:278750] POLH
Zimmermann-Laband syndrome Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] KCNH1

[Show all]

Diseases with mutations on the two sides of the same interaction
DiseasePhenotypeRelevant interactions
ADULT syndrome Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285] (TP53,TP63)
Acrodysostosis Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] (PRKAR1A,PRKACA)
Adrenal hyperplasia 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)
Androgen insensitivity syndrome Androgen insensitivity syndrome (AIS) [MIM:300068] (NR3C2,AR)
Androgen insensitivity, partial (PAIS) [MIM:312300] (NR3C2,AR)
Antithrombin III deficiency Antithrombin III deficiency (AT3D) [MIM:613118] (F10,SERPINC1), (F2,SERPINC1), (F9,SERPINC1)
Aortic aneurysm Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] (CALM1,MYLK)
Apert syndrome Apert syndrome (APRS) [MIM:101200] (FGF10,FGFR2)
Autoimmune disease, multisystem, infantile-onset, Coffin-Siris syndrome 4 (CSS4) [MIM:614609] (SMARCA4,CHD4)
Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] (FAS,FADD), (FAS,CALM1)
Bardet-Biedl syndrome Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] (BBS12,BBS10)
Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] (BBS12,BBS10)
Bleeding disorder Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] (ITGB3,ITGA2B)
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)
Brugada syndrome Brugada syndrome 1 (BRGDA1) [MIM:601144] (CALM1,SCN5A)
CLOVE syndrome Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] (PIK3R1,PIK3CA)
Cardiomyopathy 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,BRAF)
Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426] (MYH7,XRCC4)
Cardiomyopathy, dilated 1Z (CMD1Z) [MIM:611879] (TNNI3,TNNC1)
Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600] (MYH7,XRCC4)
Cardiomyopathy, familial hypertrophic 13 (CMH13) [MIM:613243] (TNNT2,TNNC1), (TNNI3,TNNC1)
Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195] (TNNI3,TNNT2), (TNNT2,TNNC1)
Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690] (TNNI3,TNNT2), (TNNI3,TNNC1)
Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] (TNNI3,TNNC1)
Cataract Cataract 30 (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)
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595] (CRYAB,HSPB1), (CRYAA,HSPB1), (HSPB1,HSPB8)
Charcot-Marie-Tooth disease 2L (CMT2L) [MIM:608673] (HSPB1,HSPB8), (CRYAB,HSPB8)
Coagulation factor deficiency Factor II deficiency (FA2D) [MIM:613679] (F2,FGB), (F2,SERPINC1), (F2,GP1BA), (F2,PROC), (F2,SERPIND1), (F2,FGA)
Factor X deficiency (FA10D) [MIM:227600] (F10,SERPINC1)
Colorectal cancer Colorectal cancer (CRC) [MIM:114500] (PIK3R1,PIK3CA)
Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] (HRAS,NF1), (HRAS,SOS1)
Complement factors deficiency Complement factor H deficiency (CFHD) [MIM:609814] (C3,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)
Crigler-Najjar syndrome Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1,UGT1A4)
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1,UGT1A4)
Crouzon syndrome Crouzon syndrome (CS) [MIM:123500] (FGF10,FGFR2)
Cutis laxa Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100] (EFEMP2,FBLN5)
Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] (EFEMP2,FBLN5)
Dehydrated hereditary stomatocytosis 2 Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689] (KCNN4,CALM1)
Dementia Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] (OPTN,TBK1)
Diabetes mellitus Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (ABCC9,KCNJ11), (INS,INSR)
Transient neonatal diabetes mellitus 3 (TNDM3) [MIM:610582] (ABCC9,KCNJ11)
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 4 (EDS4) [MIM:130050] (COL3A1,SPARC)
Elliptocytosis Elliptocytosis 2 (EL2) [MIM:130600] (SPTA1,SPTB)
Elliptocytosis 3 (EL3) [MIM:182870] (SPTA1,SPTB)
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)
Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT1,KRT10), (KRT14,KRT1), (KRT1,KRT25), (KRT1,KRT16)
Epilepsy Epilepsy, nocturnal frontal lobe, 1 (ENFL1) [MIM:600513] (CHRNB2,CHRNA4)
Epilepsy, nocturnal frontal lobe, 3 (ENFL3) [MIM:605375] (CHRNB2,CHRNA4)
Epileptic encephalopathy Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056] (KCNH1,KCNB1), (KCNB1,KCNV2)
Epileptic encephalopathy, early infantile, 47 (EIEE47) [MIM:617166] (FGF12,SCN5A)
Erythrocytosis Erythrocytosis, familial, 3 (ECYT3) [MIM:609820] (EPAS1,EGLN1)
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EPAS1,EGLN1)
Exudative vitreoretinopathy Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] (NDP,FZD4)
Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] (NDP,FZD4)
Faciocutaneoskeletal syndrome Costello syndrome (CSTLO) [MIM:218040] (HRAS,NF1), (HRAS,SOS1)
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)
Glanzmann thrombasthenia Glanzmann thrombasthenia (GT) [MIM:273800] (ITGB3,ITGA2B)
Glaucoma Glaucoma 1, open angle, E (GLC1E) [MIM:137760] (OPTN,TBK1)
Glomerulocystic kidney disease Renal cysts and diabetes syndrome (RCAD) [MIM:137920] (OTX2,HNF1B), (CRX,HNF1B)
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)
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 5 (AHUS5) [MIM:612925] (C3,CD46), (C3,CFH)
Hemophilia 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)
Hypercholesterolemia Familial hypercholesterolemia (FH) [MIM:143890] (LDLR,PCSK9)
Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] (LDLR,PCSK9)
Hyperinsulinemic hypoglycemia Familial hyperinsulinemic hypoglycemia 2 (HHF2) [MIM:601820] (ABCC9,KCNJ11)
Hyperprolactinemia Hyperprolactinemia (HPRL) [MIM:615555] (GH1,PRLR)
Hypertrichotic osteochondrodysplasia Hypertrichotic osteochondrodysplasia (HTOCD) [MIM:239850] (ABCC9,KCNJ11)
Ichthyosis Ichthyosis annular epidermolytic (AEI) [MIM:607602] (KRT1,KRT16), (KRT1,KRT25), (KRT1,KRT10), (KRT14,KRT1)
Ichthyosis bullosa of Siemens (IBS) [MIM:146800] (KRT16,KRT2), (KRT2,KRT25)
Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] (ABCA1,ABCA12)
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)
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)
Lacrimo-auriculo-dento-digital syndrome Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] (FGF10,FGFR2)
Laron syndrome Laron syndrome (LARS) [MIM:262500] (GH1,GHR)
Leber congenital amaurosis Leber congenital amaurosis 7 (LCA7) [MIM:613829] (CRX,HNF1B)
Leigh syndrome Leigh syndrome (LS) [MIM:256000] (POLG,POLG2)
Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] (PDHA1,PDHB)
Leukodystrophy hypomyelinating Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] (POLR1C,POLR1D)
Leukodystrophy with vanishing white matter Leukodystrophy with vanishing white matter (VWM) [MIM:603896] (EIF2B2,EIF2B4)
Li-Fraumeni syndrome Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53,TP63)
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 1 (LQT1) [MIM:192500] (KCNQ1,CALM1)
Long QT syndrome 14 (LQT14) [MIM:616247] (KCNQ1,CALM1), (FAS,CALM1), (KCNQ2,CALM1), (KCNN4,CALM1), (CALM1,MYLK), (CALM1,SCN5A)
Long QT syndrome 3 (LQT3) [MIM:603830] (FGF12,SCN5A), (CALM1,SCN5A)
Maple syrup urine disease Maple syrup urine disease 1A (MSUD1A) [MIM:248600] (BCKDHA,BCKDHB)
Maple syrup urine disease 1B (MSUD1B) [MIM:248600] (BCKDHA,BCKDHB)
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)
Metachromatic leukodystrophy Leukodystrophy metachromatic (MLD) [MIM:250100] (ARSA,SUMF1)
Microphthalmia Microphthalmia, syndromic, 5 (MCOPS5) [MIM:610125] (OTX2,HNF1B)
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 II deficiency (MT-C2D) [MIM:252011] (SDHB,SDHA)
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)
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, 2 (MFM2) [MIM:608810] (CRYAB,HSPB1), (CRYAA,CRYAB), (CRYAB,HSPB8)
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 7 (NS7) [MIM:613706] (RAF1,BRAF)
Norrie disease Norrie disease (ND) [MIM:310600] (NDP,FZD4)
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)
Osteogenesis imperfecta 3 (OI3) [MIM:259420] (COL1A1,COL1A2)
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,KRT25), (KRT6A,KRT17)
Palmoplantar keratoderma Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760] (KRT4,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)
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] (FGF10,FGFR2)
Pheochromocytoma Pheochromocytoma (PCC) [MIM:171300] (SDHB,SDHA)
Pigmented adrenocortical disease Primary pigmented nodular adrenocortical disease 4 (PPNAD4) [MIM:615830] (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)
Premature ovarian failure Premature ovarian failure 7 (POF7) [MIM:612964] (NR0B1,NR5A1)
Progressive external ophthalmoplegia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131] (POLG,POLG2)
Pseudohypoaldosteronism Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] (NR3C2,AR)
Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] (WNK4,KLHL3)
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (WNK4,KLHL3)
Pyropoikilocytosis Hereditary pyropoikilocytosis (HPP) [MIM:266140] (SPTA1,SPTB)
Pyruvate carboxylase deficiency Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111] (PDHA1,PDHB)
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] (SNRNP200,PRPF8)
SHORT syndrome SHORT syndrome (SHORTS) [MIM:269880] (PIK3R1,PIK3CA)
Schimmelpenning-Feuerstein-Mims syndrome Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200] (HRAS,NF1), (HRAS,SOS1)
Seizures Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] (KCNQ2,CALM1)
Sensory ataxic neuropathy dysarthria and ophthalmoparesis Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] (POLG,POLG2)
Short stature Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541] (MYH7,XRCC4)
Sick sinus syndrome Sick sinus syndrome 1 (SSS1) [MIM:608567] (CALM1,SCN5A)
Sitosterolemia Sitosterolemia (STSL) [MIM:210250] (ABCG8,ABCG5)
Spinocerebellar ataxia Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459] (POLG,POLG2)
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)
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)
Treacher Collins syndrome Treacher Collins syndrome 2 (TCS2) [MIM:613717] (POLR1C,POLR1D)
Ventricular tachycardia Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916] (KCNQ2,CALM1), (KCNN4,CALM1), (KCNQ1,CALM1), (CALM1,SCN5A)
Von Willebrand disease Pseudo-von Willebrand disease (VWDP) [MIM:177820] (VWF,GP1BA), (F2,GP1BA)
Von Willebrand disease 2 (VWD2) [MIM:613554] (VWF,GP1BA)
White sponge nevus White sponge nevus 1 (WSN1) [MIM:193900] (KRT4,KRT25), (KRT16,KRT4)

[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) 0.771 0.0283 0.0283
All phenotypes (ACADVL, ACADVL) 0.771 0.0283 0.113
Adenomatous polyposis Familial adenomatous polyposis (FAP) [MIM:175100] (APC, DLG3) 4.848 0.0343 0.0399
Familial adenomatous polyposis (FAP) [MIM:175100] (APC, DLG1) 4.625 0.0399 0.0399
Adrenocorticotropic hormone deficiency ACTH deficiency, isolated (IAD) [MIM:201400] (TBX19, VENTX) 4.939 0.0326 0.0652
Adrenoleukodystrophy Adrenoleukodystrophy (ALD) [MIM:300100] (ABCD1, ABCD2) 1.222 0.0014 0.00421
Adrenoleukodystrophy (ALD) [MIM:300100] (ABCD3, ABCD1) 1.179 0.00673 0.0101
Agammaglobulinemia All phenotypes (MET, BTK) 0.631 0.0238 0.167
X-linked agammaglobulinemia (XLA) [MIM:300755] (MET, BTK) 0.631 0.0238 0.119
Alexander disease Alexander disease (ALXDRD) [MIM:203450] (GFAP, KRT31) 0.870 0.036 0.16
Alexander disease (ALXDRD) [MIM:203450] (GFAP, KRT27) 0.844 0.04 0.16
Alexander disease (ALXDRD) [MIM:203450] (KRT19, GFAP) 0.844 0.04 0.16
Alzheimer disease All phenotypes (APP, PITRM1) 3.284 0.0173 0.0779
All phenotypes (APP, LCN2) 2.754 0.0343 0.0885
All phenotypes (IGKC, APP) 2.647 0.0393 0.0885
All phenotypes (APP, APP) 1.482 1.58e-6 1.42e-5
Alzheimer disease 1 (AD1) [MIM:104300] (APP, PITRM1) 3.284 0.0173 0.052
Alzheimer disease 1 (AD1) [MIM:104300] (APP, LCN2) 2.754 0.0343 0.059
Alzheimer disease 1 (AD1) [MIM:104300] (IGKC, APP) 2.647 0.0393 0.059
Alzheimer disease 1 (AD1) [MIM:104300] (APP, APP) 1.482 1.58e-6 9.48e-6
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
Amyotrophic lateral sclerosis All phenotypes (SHC1, ERBB4) 5.953 0.0161 0.121
All phenotypes (FUS, TNPO1) 3.281 1.4e-12 2.1e-11
All phenotypes (VCP, VCP) 1.095 0.048 0.24
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) [MIM:613954] (VCP, VCP) 1.095 0.048 0.0961
Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515] (SHC1, ERBB4) 5.953 0.0161 0.0161
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] (FUS, TNPO1) 3.281 1.4e-12 1.4e-12
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) 5.159 0.028 0.028
Apert syndrome Apert syndrome (APRS) [MIM:101200] (FGF10, FGFR2) 3.945 0.000274 0.000833
Apert syndrome (APRS) [MIM:101200] (FGF5, FGFR2) 3.874 0.000317 0.000833
Apert syndrome (APRS) [MIM:101200] (FGF2, FGFR2) 3.775 0.00039 0.000833
Apert syndrome (APRS) [MIM:101200] (FGF3, FGFR2) 3.743 0.000416 0.000833
Apert syndrome (APRS) [MIM:101200] (FGFR2, FGF8) 3.512 0.000674 0.00108
Apert syndrome (APRS) [MIM:101200] (FGF7, FGFR2) 3.313 0.00102 0.00136
Apert syndrome (APRS) [MIM:101200] (FGF1, FGFR2) 3.057 0.00173 0.00198
Atrial septal defect All phenotypes (MYH6, MYL7) 4.901 0.0335 0.1
Atrial septal defect 3 (ASD3) [MIM:614089] (MYH6, MYL7) 4.901 0.0335 0.0335
Autoimmune disease, multisystem, infantile-onset, All phenotypes (STAT3, SH2D2A) 4.310 0.00331 0.0311
All phenotypes (STAT3, ABL2) 4.194 0.00388 0.0311
All phenotypes (STAT3, PIK3R3) 3.766 0.00697 0.0372
All phenotypes (STAT3, STAT3) 2.647 0.0316 0.126
Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (STAT3, SH2D2A) 4.310 0.00331 0.0213
Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (STAT3, ABL2) 4.194 0.00388 0.0213
Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (STAT3, PIK3R3) 3.766 0.00697 0.0256
Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (STAT3, STAT3) 2.647 0.0316 0.0868
Autoimmune lymphoproliferative syndrome All phenotypes (ILK, CASP8) 4.618 0.0407 0.174
All phenotypes (FAS, ANK3) 1.556 0.0434 0.174
Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] (FAS, ANK3) 1.556 0.0434 0.217
Caspase-8 deficiency (CASP8D) [MIM:607271] (ILK, CASP8) 4.618 0.0407 0.0407
Autoimmune polyendocrine syndrome Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] (AIRE, AIRE) 2.106 0.0184 0.0184
Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM:614878] (PLCG2, PIK3R1) 4.421 0.0467 0.063
Basal cell nevus syndrome Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] (NRAS, RASA1) 2.254 0.00921 0.0184
Bladder cancer Bladder cancer (BLC) [MIM:109800] (FGF1, FGFR3) 2.665 0.035 0.07
Bleeding disorder All phenotypes (ITGA2B, FLNA) 7.104 5.28e-5 0.000211
All phenotypes (ITGB3, TLN1) 5.181 0.0276 0.0367
All phenotypes (ITGB3, ITGA2B) 1.885 0.0198 0.0367
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) 5.181 0.0276 0.0276
Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] (ITGB3, ITGA2B) 1.885 0.0198 0.0276
Bone mineral density variability High bone mass trait (HBM) [MIM:601884] (LRP5, SOST) 5.169 0.0276 0.0276
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) 2.254 0.000836 0.00919
All phenotypes (BMP7, NOG) 1.892 0.0115 0.0496
All phenotypes (GDF5, NOG) 1.372 0.0135 0.0496
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) 2.254 0.000836 0.00334
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 2.63e-5
All phenotypes (BRCA1, ATRIP) 3.138 0.00384 0.0166
All phenotypes (BRCA1, BRAT1) 3.138 0.00384 0.0166
All phenotypes (PIK3CA, PIK3R3) 2.525 0.0371 0.0826
All phenotypes (BRCA1, ACACA) 2.264 0.0204 0.0664
All phenotypes (BRCA1, FAM175A) 1.865 0.0422 0.0826
All phenotypes (BRCA1, BRIP1) 1.816 0.046 0.0826
Breast cancer (BC) [MIM:114480] (BRCA2, PALB2) 5.246 2.02e-6 2.43e-5
Breast cancer (BC) [MIM:114480] (BRCA1, ATRIP) 3.138 0.00384 0.0153
Breast cancer (BC) [MIM:114480] (BRCA1, BRAT1) 3.138 0.00384 0.0153
Breast cancer (BC) [MIM:114480] (PIK3CA, PIK3R3) 2.525 0.0371 0.0763
Breast cancer (BC) [MIM:114480] (BRCA1, ACACA) 2.264 0.0204 0.0613
Breast cancer (BC) [MIM:114480] (BRCA1, FAM175A) 1.865 0.0422 0.0763
Breast cancer (BC) [MIM:114480] (BRCA1, BRIP1) 1.816 0.046 0.0763
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) 2.525 0.0371 0.0508
Camurati-Engelmann disease Camurati-Engelmann disease (CAEND) [MIM:131300] (TGFB1, TGFB1) 1.166 0.0035 0.0035
Cardiofaciocutaneous syndrome All phenotypes (DIRAS3, KRAS) 2.624 0.00792 0.095
Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] (DIRAS3, KRAS) 2.624 0.00792 0.0317
Cardiomyopathy All phenotypes (CRYAB, HSPB2) 2.281 0.0423 0.435
All phenotypes (BAG3, HSPA8) 2.200 0.0153 0.435
Cardiomyopathy, dilated 1EE (CMD1EE) [MIM:613252] (MYH6, MYL7) 4.901 0.0335 0.0335
Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] (BAG3, HSPA8) 2.200 0.0153 0.0153
Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184] (CRYAB, HSPB2) 2.281 0.0423 0.157
Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424] (CAPN1, ACTC1) 4.966 0.0317 0.0317
Cataract All phenotypes (HSPB6, CRYAA) 1.034 0.0278 0.361
Cataract 9, multiple types (CTRCT9) [MIM:604219] (HSPB6, CRYAA) 1.034 0.0278 0.111
Cerebral amyloid angiopathy Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, PITRM1) 5.570 1.56e-5 7.78e-5
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, LCN2) 5.039 4.66e-5 0.000117
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, IDE) 4.492 0.000144 0.000241
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (IGKC, APP) 4.347 0.0035 0.00438
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, APP) 1.482 0.0164 0.0164
Cerebrooculofacioskeletal syndrome All phenotypes (ERCC2, GTF2H2) 4.569 0.0417 0.0667
All phenotypes (ERCC2, GTF2H2C) 4.476 0.0444 0.0667
Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756] (ERCC2, GTF2H2) 4.569 0.0417 0.0444
Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756] (ERCC2, GTF2H2C) 4.476 0.0444 0.0444
Charcot-Marie-Tooth disease All phenotypes (HSPB1, HSPB8) 1.972 0.024 0.423
Cherubism Cherubism (CRBM) [MIM:118400] (SH3BP2, TNKS2) 4.285 9.33e-10 9.33e-10
Citrullinemia Citrullinemia 1 (CTLN1) [MIM:215700] (ASS1, ASS1) 0.443 0.0423 0.0423
Coagulation factor deficiency All phenotypes (F2, F5) 3.209 0.0184 0.135
All phenotypes (F2, F2R) 2.134 0.00224 0.0494
All phenotypes (F2, SERPINC1) 2.116 0.00843 0.0927
All phenotypes (F2, SERPIND1) 1.946 0.0355 0.164
All phenotypes (F2, GP1BA) 1.920 0.0372 0.164
Factor II deficiency (FA2D) [MIM:613679] (F2, F5) 3.209 0.0184 0.0918
Factor II deficiency (FA2D) [MIM:613679] (F2, F2R) 2.134 0.00224 0.0337
Factor II deficiency (FA2D) [MIM:613679] (F2, SERPINC1) 2.116 0.00843 0.0632
Factor II deficiency (FA2D) [MIM:613679] (F2, SERPIND1) 1.946 0.0355 0.112
Factor II deficiency (FA2D) [MIM:613679] (F2, GP1BA) 1.920 0.0372 0.112
Colorectal cancer All phenotypes (HLA-A, CTNNB1) 5.975 0.0159 0.0758
All phenotypes (CTNNB1, FBXW11) 5.837 0.0175 0.0758
All phenotypes (BRAF, MAP2K1) 2.609 0.00816 0.0758
All phenotypes (BRAF, MAP2K2) 2.239 0.0168 0.0758
All phenotypes (PIK3CA, PIK3R3) 2.110 0.00856 0.0758
All phenotypes (PIK3R1, PIK3CA) 1.873 0.0154 0.0758
Colorectal cancer (CRC) [MIM:114500] (HLA-A, CTNNB1) 5.975 0.0159 0.0321
Colorectal cancer (CRC) [MIM:114500] (CTNNB1, FBXW11) 5.837 0.0175 0.0321
Colorectal cancer (CRC) [MIM:114500] (BRAF, MAP2K1) 2.609 0.00816 0.0321
Colorectal cancer (CRC) [MIM:114500] (BRAF, MAP2K2) 2.239 0.0168 0.0321
Colorectal cancer (CRC) [MIM:114500] (PIK3CA, PIK3R3) 2.110 0.00856 0.0321
Colorectal cancer (CRC) [MIM:114500] (PIK3R1, PIK3CA) 1.873 0.0154 0.0321
Cone-rod dystrophy All phenotypes (CRX, RHOXF2) 2.421 0.0348 0.107
All phenotypes (CRX, TLX3) 2.421 0.0348 0.107
All phenotypes (CRX, RAX2) 2.322 0.04 0.107
Cone-rod dystrophy 2 (CORD2) [MIM:120970] (CRX, RHOXF2) 2.421 0.0348 0.04
Cone-rod dystrophy 2 (CORD2) [MIM:120970] (CRX, TLX3) 2.421 0.0348 0.04
Cone-rod dystrophy 2 (CORD2) [MIM:120970] (CRX, RAX2) 2.322 0.04 0.04
Congenital disorder of glycosylation Congenital disorder of glycosylation 1Z (CDG1Z) [MIM:616457] (CAD, CAD) 4.435 0.0462 0.0462
Congenital heart defects All phenotypes (HERC2, CDC42) 4.992 0.0314 0.239
Takenouchi-Kosaki syndrome (TKS) [MIM:616737] (HERC2, CDC42) 4.992 0.0314 0.232
Corneal intraepithelial dyskeratosis and ectodermal dysplasia Corneal intraepithelial dyskeratosis and ectodermal dysplasia (CIDED) [MIM:615225] (PYDC2, NLRP1) 4.814 0.0355 0.0355
Cortical dysplasia complex with other brain malformations All phenotypes (TUBB3, TUBA1A) 1.765 0.0359 0.108
Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039] (TUBB3, TUBA1A) 1.765 0.0359 0.0717
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, UGT1A10) 1.800 9.36e-5 0.000601
All phenotypes (UGT1A1, UGT1A8) 1.800 9.36e-5 0.000601
All phenotypes (UGT1A1, UGT1A3) 1.762 0.00012 0.000601
All phenotypes (UGT1A1, UGT1A1) 1.713 0.000336 0.000907
All phenotypes (UGT1A9, UGT1A1) 1.713 0.000336 0.000907
All phenotypes (UGT1A1, UGT1A7) 1.674 0.000423 0.000907
All phenotypes (UGT1A6, UGT1A1) 1.674 0.000423 0.000907
All phenotypes (UGT1A1, UGT1A4) 1.306 0.00137 0.00257
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A10) 2.144 0.000221 0.00132
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A8) 2.144 0.000221 0.00132
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A3) 2.107 0.000265 0.00132
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A1) 1.990 0.00118 0.00259
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A9, UGT1A1) 1.990 0.00118 0.00259
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A7) 1.952 0.00138 0.00259
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A6, UGT1A1) 1.952 0.00138 0.00259
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A4) 1.708 0.000806 0.00259
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A1) 1.859 0.00215 0.0029
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A9, UGT1A1) 1.859 0.00215 0.0029
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A10) 1.821 0.0025 0.0029
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A7) 1.821 0.0025 0.0029
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A8) 1.821 0.0025 0.0029
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A6, UGT1A1) 1.821 0.0025 0.0029
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A3) 1.783 0.0029 0.0029
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A4) 1.783 0.0029 0.0029
Crouzon syndrome All phenotypes (FGF2, FGFR2) 1.190 0.0445 0.168
All phenotypes (FGFR2, FGF8) 1.149 0.0345 0.168
Crouzon syndrome (CS) [MIM:123500] (FGF2, FGFR2) 1.190 0.0445 0.2
Crouzon syndrome (CS) [MIM:123500] (FGFR2, FGF8) 1.149 0.0345 0.2
Cutis laxa All phenotypes (PYCR1, PYCR1) 0.822 0.0437 0.175
Deafness All phenotypes (AIFM1, AIFM1) 3.482 0.0119 0.179
Deafness, X-linked, 5 (DFNX5) [MIM:300614] (AIFM1, AIFM1) 3.482 0.0119 0.0119
Diabetes mellitus All phenotypes (INS, INSR) 1.263 0.0023 0.0207
All phenotypes (ABCC9, KCNJ11) 1.181 0.013 0.0778
All phenotypes (INS, INS) 0.737 0.00135 0.0207
All phenotypes (INS, IDE) 0.652 0.0391 0.176
Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] (SH2B2, INSR) 5.280 0.0255 0.081
Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] (INSR, SH2B1) 4.932 0.0324 0.081
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (INS, INSR) 1.356 0.00113 0.0101
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (ABCC9, KCNJ11) 1.082 0.039 0.0878
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (INS, IDE) 0.745 0.0201 0.0604
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (INS, INS) 0.731 0.00226 0.0102
Dihydrolipoamide dehydrogenase deficiency Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] (DLD, DBT) 2.982 0.0252 0.0378
Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] (PDHX, DLD) 2.397 0.0164 0.0378
Dysfibrinogenemia Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] (F2, FGB) 6.102 0.0146 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 0.191
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) 3.512 1.67e-12 3.33e-12
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] (TP53BP2, TP63) 3.396 4.6e-12 4.6e-12
Ehlers-Danlos syndrome Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] (COL3A1, COL3A1) 1.746 1.03e-10 2.05e-10
Elliptocytosis All phenotypes (SPTA1, SPTB) 4.613 9.73e-19 2.92e-18
All phenotypes (SPTA1, SPTBN1) 3.687 4.79e-11 7.18e-11
Elliptocytosis 2 (EL2) [MIM:130600] (SPTA1, SPTB) 5.088 1.32e-15 2.63e-15
Elliptocytosis 2 (EL2) [MIM:130600] (SPTA1, SPTBN1) 3.687 4.79e-11 4.79e-11
Elliptocytosis 3 (EL3) [MIM:182870] (SPTA1, SPTB) 4.203 2.43e-5 4.85e-5
Elliptocytosis 3 (EL3) [MIM:182870] (SPTB, SPTAN1) 3.385 0.000224 0.000224
Epidermolysis bullosa All phenotypes (KRT14, BFSP2) 0.752 0.0331 0.114
All phenotypes (KRT14, KRT81) 0.722 0.0382 0.114
All phenotypes (KRT14, KRT3) 0.694 0.0438 0.114
All phenotypes (KRT14, KRT6C) 0.694 0.0438 0.114
All phenotypes (KRT14, KRT78) 0.694 0.0438 0.114
All phenotypes (KRT14, PRPH) 0.694 0.0438 0.114
All phenotypes (KRT86, KRT14) 0.694 0.0438 0.114
All phenotypes (KRT14, KRT1) 0.636 0.0344 0.114
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT1) 0.899 0.0238 0.162
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT5) 0.857 0.017 0.162
Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT1, KRT10) 0.987 0.00419 0.0639
Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT1, KRT39) 0.919 0.0414 0.0639
Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT1, KRT26) 0.893 0.0453 0.0639
Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT37, KRT1) 0.893 0.0453 0.0639
Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT36, KRT1) 0.868 0.0495 0.0639
Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT38, KRT1) 0.868 0.0495 0.0639
Epilepsy All phenotypes (SNAP23, STX1B) 2.859 0.019 0.178
All phenotypes (CHRNB2, CHRNA4) 1.298 0.0274 0.178
Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] (SNAP23, STX1B) 2.859 0.019 0.095
Epileptic encephalopathy All phenotypes (KCNH1, KCNB1) 3.136 0.0195 0.189
All phenotypes (GNAO1, PDE6G) 2.474 0.0467 0.189
All phenotypes (GNAO1, PDE6H) 2.474 0.0467 0.189
Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473] (GNAO1, PDE6G) 2.474 0.0467 0.0467
Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473] (GNAO1, PDE6H) 2.474 0.0467 0.0467
Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056] (KCNH1, KCNB1) 3.136 0.0195 0.118
Erythrocytosis All phenotypes (EPAS1, EGLN3) 4.262 0.000334 0.002
All phenotypes (EPAS1, EGLN1) 3.366 0.00235 0.00704
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EPAS1, EGLN3) 4.262 0.000334 0.001
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EPAS1, EGLN1) 3.814 0.0079 0.0119
Exudative vitreoretinopathy All phenotypes (FZD4, FZD4) 1.904 0.00865 0.026
Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] (FZD4, FZD4) 1.904 0.00865 0.0173
Fabry disease Fabry disease (FD) [MIM:301500] (GLA, GLA) 0.725 0.00766 0.00766
Faciocutaneoskeletal syndrome Costello syndrome (CSTLO) [MIM:218040] (HRAS, NF1) 1.874 7.54e-5 0.000381
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RASA1) 1.833 9.53e-5 0.000381
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RIN1) 1.511 0.00448 0.00707
Costello syndrome (CSTLO) [MIM:218040] (HRAS, SOS2) 1.418 0.000997 0.00266
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RGL1) 1.359 0.00138 0.00276
Costello syndrome (CSTLO) [MIM:218040] (RGL2, HRAS) 1.278 0.0053 0.00707
Costello syndrome (CSTLO) [MIM:218040] (HRAS, SOS1) 0.745 0.0184 0.021
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 (BRCA2, SHFM1) 2.939 0.017 0.0681
Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] (BRCA2, SHFM1) 2.939 0.017 0.017
Feingold syndrome Feingold syndrome 1 (FGLDS1) [MIM:164280] (MYCN, MAX) 1.511 0.0432 0.0432
Fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] (FKBP1B, ACVR1) 2.621 0.0101 0.0402
Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] (FKBP1A, ACVR1) 2.135 0.0251 0.0502
Fibrosis of extraocular muscles Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700] (KIF21A, KIF21A) 2.994 6.18e-7 6.18e-7
Focal segmental glomerulosclerosis Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] (ACTN4, IQGAP1) 5.295 4.01e-5 0.00012
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
Glomerulocystic kidney disease Renal cysts and diabetes syndrome (RCAD) [MIM:137920] (CRX, HNF1B) 1.296 0.0455 0.182
Glutaric aciduria All phenotypes (ETFA, ETFB) 1.299 0.0413 0.124
Growth retardation Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] (PRKACB, CSNK2A1) 2.628 0.0351 0.0793
Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] (CSNK2B, CSNK2A1) 2.535 0.0397 0.0793
Hemolytic uremic syndrome All phenotypes (C3, CR2) 3.452 0.000314 0.000943
All phenotypes (C3, CD46) 2.435 0.0165 0.033
All phenotypes (C3, CFH) 1.686 0.00011 0.000662
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) 2.686 9.9e-5 0.000495
Hemophilia All phenotypes (F9, SERPINC1) 0.641 0.0302 0.0907
Hemophilia B (HEMB) [MIM:306900] (F9, SERPINC1) 0.641 0.0302 0.0604
Hepatocellular carcinoma Hepatocellular carcinoma (HCC) [MIM:114550] (SOCS3, MET) 4.796 0.0017 0.019
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, GRB7) 4.573 0.00231 0.019
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, GRB14) 4.523 0.00247 0.019
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, KDR) 3.404 0.0114 0.0656
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, BTK) 2.905 0.0224 0.103
High density lipoprotein deficiency High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] (ABCA1, ABCA12) 2.650 0.0366 0.0366
Hirschsprung disease All phenotypes (RET, GRB10) 1.606 0.0134 0.0858
All phenotypes (RET, RET) 0.986 0.0191 0.0858
Hirschsprung disease 1 (HSCR1) [MIM:142623] (RET, GRB10) 1.606 0.0134 0.0762
Hirschsprung disease 1 (HSCR1) [MIM:142623] (RET, RET) 0.986 0.0191 0.0762
Hypercholesterolemia All phenotypes (, PCSK9) 2.623 0.0104 0.052
All phenotypes (LDLR, APOH) 1.534 0.03 0.0621
All phenotypes (LDLR, PCSK9) 1.169 0.0373 0.0621
Familial hypercholesterolemia (FH) [MIM:143890] (LDLR, APOH) 1.534 0.03 0.12
Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] (LDLR, PCSK9) 2.913 0.0273 0.0273
Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] (, PCSK9) 2.623 0.0104 0.0208
Hyperekplexia Hyperekplexia 1 (HKPX1) [MIM:149400] (GLRA1, GLRA1) 1.322 6.22e-5 6.22e-5
Hyperinsulinemic hypoglycemia All phenotypes (INSR, IRS1) 5.680 0.0195 0.0464
All phenotypes (INSR, GRB7) 5.280 0.0257 0.0464
All phenotypes (INSR, GRB10) 5.237 0.0265 0.0464
All phenotypes (INSR, GRB14) 5.237 0.0265 0.0464
Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] (INSR, IRS1) 5.680 0.0195 0.0265
Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] (INSR, GRB7) 5.280 0.0257 0.0265
Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] (INSR, GRB10) 5.237 0.0265 0.0265
Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] (INSR, GRB14) 5.237 0.0265 0.0265
Hypogonadotropic hypogonadism All phenotypes (FGF19, FGFR1) 1.317 0.0216 0.194
Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] (FGF19, FGFR1) 1.317 0.0216 0.173
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
Ichthyosis All phenotypes (ABCA1, ABCA12) 2.503 0.0443 0.467
Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] (ABCA1, ABCA12) 2.503 0.0443 0.0443
Immunodeficiency All phenotypes (NFKBIA, IKBKG) 4.152 0.00411 0.0494
All phenotypes (UBC, IKBKG) 2.515 0.0377 0.226
Immunodeficiency 31A (IMD31A) [MIM:614892] (STAT1, STAT1) 1.734 0.044 0.132
Immunodeficiency 33 (IMD33) [MIM:300636] (NFKBIA, IKBKG) 4.737 0.00141 0.00422
Immunodeficiency 33 (IMD33) [MIM:300636] (UBC, IKBKG) 3.100 0.0136 0.0204
Inclusion body myopathy Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] (VCP, VCP) 0.902 0.0233 0.0698
Incontinentia pigmenti Incontinentia pigmenti (IP) [MIM:308300] (UBC, IKBKG) 2.100 0.0242 0.121
Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) [MIM:123150] (FGF1, FGFR1) 4.342 0.0493 0.201
Jackson-Weiss syndrome (JWS) [MIM:123150] (FGF19, FGFR1) 4.342 0.0493 0.201
Juvenile polyposis All phenotypes (BMPR1A, BMPR1A) 2.944 0.0259 0.182
Juvenile polyposis syndrome (JPS) [MIM:174900] (BMPR1A, BMPR1A) 2.944 0.0259 0.103
Keratinocytic non-epidermolytic nevus Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, RIN1) 2.296 0.00844 0.0414
Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, RASA1) 2.254 0.00921 0.0414
Keratosis Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3CA, PIK3R3) 2.695 0.00567 0.0228
Keratosis, seborrheic (KERSEB) [MIM:182000] (FGFR3, FGFR3) 2.502 0.0451 0.0752
Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3R1, PIK3CA) 2.458 0.00914 0.0228
Leopard syndrome All phenotypes (ERBB2, PTPN11) 3.758 0.000139 0.00125
All phenotypes (PTPN11, PTPN11) 1.185 0.0479 0.131
LEOPARD syndrome 1 (LPRD1) [MIM:151100] (ERBB2, PTPN11) 3.758 0.000139 0.000278
LEOPARD syndrome 1 (LPRD1) [MIM:151100] (PTPN11, PTPN11) 1.185 0.0479 0.0479
Leukemia Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (MET, PTPN11) 4.505 8.02e-8 2.81e-7
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (GRB2, PTPN11) 3.062 3.8e-8 2.66e-7
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (ERBB2, PTPN11) 2.620 0.0403 0.0615
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (NRAS, RASA1) 2.254 0.0439 0.0615
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (PTPN11, PTPN11) 1.895 4.27e-5 9.96e-5
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] (DARS2, DARS2) 1.687 0.000571 0.00114
Li-Fraumeni syndrome Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53BP2) 1.636 0.000456 0.00159
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, PPP1R13L) 1.604 0.000104 0.00073
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, BCL2) 1.114 0.00655 0.0153
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, BCL2L1) 0.999 0.0162 0.0283
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53BP1) 0.859 0.0206 0.0288
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53) 0.388 0.0248 0.0289
Limb-girdle muscular dystrophy All phenotypes (LMNA, LMNB1) 1.469 0.0402 0.115
Loeys-Dietz syndrome All phenotypes (SMAD3, SMAD4) 1.941 0.0298 0.176
Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] (SMAD3, SMAD4) 1.941 0.0298 0.0595
Long QT syndrome All phenotypes (MYO1C, CALM1) 1.272 0.0067 0.315
Long QT syndrome 14 (LQT14) [MIM:616247] (GAP43, CALM1) 2.386 0.0446 0.657
Long QT syndrome 14 (LQT14) [MIM:616247] (CALM1, IQCE) 2.312 0.0492 0.657
Long QT syndrome 14 (LQT14) [MIM:616247] (CALM1, NRGN) 2.312 0.0492 0.657
Long QT syndrome 15 (LQT15) [MIM:616249] (MYO1C, CALM1) 1.371 0.0152 0.0914
Lung cancer Lung cancer (LNCR) [MIM:211980] (BRAF, MAPK3) 3.244 0.0111 0.0445
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
McCune-Albright syndrome McCune-Albright syndrome (MAS) [MIM:174800] (GNAS, GNAS) 1.747 0.0264 0.0264
Medullary thyroid carcinoma Medullary thyroid carcinoma (MTC) [MIM:155240] (RET, PTK2) 2.654 0.0383 0.112
Medullary thyroid carcinoma (MTC) [MIM:155240] (EGFR, RET) 2.635 0.0105 0.0836
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
Medulloblastoma (MDB) [MIM:155255] (JUP, APC) 3.651 0.00634 0.00845
Melanoma All phenotypes (CDK4, CDKN2C) 2.894 0.0227 0.109
All phenotypes (CDK4, CDKN2D) 2.694 0.0296 0.109
All phenotypes (CDK4, CDKN2A) 0.862 0.018 0.109
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2C) 2.894 0.0227 0.145
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2D) 2.694 0.0296 0.145
Melanosis, neurocutaneous Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, RIN1) 2.296 0.0415 0.0439
Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, RASA1) 2.254 0.0439 0.0439
Mental retardation All phenotypes (TRIO, RAC1) 4.751 0.00138 0.0115
All phenotypes (PPP2R1A, PPP2R5C) 3.392 0.0128 0.0638
All phenotypes (PPP2R1A, CDC6) 2.676 0.033 0.0898
All phenotypes (PPP2R1A, PPP2R3B) 2.676 0.033 0.0898
All phenotypes (PPP2R1A, PPP2R5A) 2.615 0.0358 0.0898
All phenotypes (PPP2R1A, PPP2R5D) 2.615 0.0358 0.0898
All phenotypes (PPP2R1A, PPP2R2A) 2.556 0.0386 0.0898
All phenotypes (PPP2R1A, PPP2R5B) 2.499 0.0416 0.0898
All phenotypes (PPP2R1A, PPP2R5E) 2.472 0.0431 0.0898
All phenotypes (GNAI2, GNB1) 2.432 0.000214 0.00347
All phenotypes (GRK2, GNB1) 2.365 0.000278 0.00347
All phenotypes (SMS, SMS) 1.902 0.0087 0.0544
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5C) 3.392 0.0128 0.0485
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, CDC6) 2.676 0.033 0.0485
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R3B) 2.676 0.033 0.0485
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5A) 2.615 0.0358 0.0485
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5D) 2.615 0.0358 0.0485
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R2A) 2.556 0.0386 0.0485
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5B) 2.499 0.0416 0.0485
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5E) 2.472 0.0431 0.0485
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNAI2, GNB1) 2.432 0.000214 0.000833
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GRK2, GNB1) 2.365 0.000278 0.000833
Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061] (TRIO, RAC1) 4.751 0.00138 0.00138
X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583] (SMS, SMS) 1.902 0.0087 0.0087
Microphthalmia All phenotypes (RARB, RXRG) 2.727 0.000521 0.00208
Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524] (RARB, RXRG) 2.727 0.000521 0.00104
Monilethrix Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT19) 0.893 0.0244 0.217
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT35) 0.893 0.0244 0.217
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT33B) 0.868 0.0271 0.217
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT31) 0.842 0.0301 0.217
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT32) 0.842 0.0301 0.217
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT34) 0.818 0.0333 0.217
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT37) 0.818 0.0333 0.217
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT38) 0.794 0.0369 0.217
Multiple neoplasia All phenotypes (RET, LRRK1) 3.391 0.0135 0.0452
All phenotypes (RET, MAPK1) 3.298 0.0152 0.0452
All phenotypes (RET, MAPK3) 3.169 0.0181 0.0452
All phenotypes (MEN1, JUND) 1.184 0.00448 0.0448
Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] (MEN1, JUND) 1.184 0.00448 0.0179
Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] (MEN1, KMT2A) 0.523 0.0455 0.0911
Multiple neoplasia 2A (MEN2A) [MIM:171400] (RET, LRRK1) 4.713 0.00145 0.00264
Multiple neoplasia 2A (MEN2A) [MIM:171400] (RET, MAPK1) 4.620 0.00165 0.00264
Multiple neoplasia 2A (MEN2A) [MIM:171400] (RET, MAPK3) 4.491 0.00198 0.00264
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) 1.257 0.0219 0.153
Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] (GDF5, NOG) 1.257 0.0219 0.11
Myofibromatosis Myofibromatosis, infantile 1 (IMF1) [MIM:228550] (PDGFRB, STAT5A) 4.694 0.0382 0.0765
Myopathy All phenotypes (CRYAB, HSPB8) 3.203 0.0118 0.0786
All phenotypes (HSPB6, CRYAB) 2.866 0.0188 0.107
All phenotypes (CRYAB, HSPB2) 2.281 0.0423 0.154
All phenotypes (HRAS, NF1) 1.874 0.029 0.126
All phenotypes (HRAS, RIN1) 1.874 0.029 0.126
All phenotypes (HRAS, RASA1) 1.833 0.0314 0.126
All phenotypes (DES, SYNC) 1.684 0.000607 0.00607
All phenotypes (DES, KRT20) 1.672 8.76e-5 0.00277
All phenotypes (DES, KRT33B) 1.593 0.000149 0.00277
All phenotypes (KRT37, DES) 1.542 0.000207 0.00277
All phenotypes (KRT75, DES) 1.404 0.00119 0.00953
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, NF1) 1.874 0.029 0.168
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RIN1) 1.874 0.029 0.168
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RASA1) 1.833 0.0314 0.168
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, SYNC) 1.684 0.000607 0.000911
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT20) 1.672 8.76e-5 0.000415
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT33B) 1.593 0.000149 0.000415
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT37, DES) 1.542 0.000207 0.000415
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT75, DES) 1.404 0.00119 0.00143
Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] (CRYAB, HSPB8) 3.203 0.0118 0.0564
Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] (HSPB6, CRYAB) 2.866 0.0188 0.0564
Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] (CRYAB, HSPB2) 2.281 0.0423 0.0846
Neu-Laxova syndrome Neu-Laxova syndrome 1 (NLS1) [MIM:256520] (PHGDH, PHGDH) 2.986 0.0159 0.0159
Neuroblastoma Neuroblastoma 3 (NBLST3) [MIM:613014] (ALK, ALK) 1.136 0.00879 0.00879
Neurofibromatosis All phenotypes (HRAS, NF1) 2.973 4.25e-7 1.28e-6
Neurofibromatosis 1 (NF1) [MIM:162200] (HRAS, NF1) 2.973 4.25e-7 8.51e-7
Neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] (HRAS, NF1) 3.890 2.07e-5 2.07e-5
Neuronopathy All phenotypes (CRYAB, HSPB8) 2.683 0.0243 0.173
All phenotypes (HSPB3, HSPB8) 2.609 0.0269 0.173
All phenotypes (HSPB2, HSPB8) 2.471 0.0325 0.173
All phenotypes (HSPB6, HSPB8) 2.176 0.049 0.183
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (CRYAB, HSPB8) 2.683 0.0243 0.0686
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB3, HSPB8) 2.609 0.0269 0.0686
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB2, HSPB8) 2.471 0.0325 0.0686
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB1, HSPB8) 2.230 0.0454 0.0686
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB6, HSPB8) 2.176 0.049 0.0686
Noonan-like syndrome Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL) [MIM:613563] (UBC, CBL) 4.213 0.00421 0.0126
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] (CBL, UBE2L3) 3.274 0.0149 0.0149
Noonan syndrome All phenotypes (RAF1, SFN) 3.935 1.12e-7 2.18e-6
All phenotypes (RAF1, YWHAZ) 3.450 1.08e-6 4.33e-6
All phenotypes (RAF1, YWHAB) 3.391 1.73e-7 2.18e-6
All phenotypes (RAF1, YWHAG) 3.280 3.12e-7 2.18e-6
All phenotypes (RAF1, YWHAQ) 3.280 3.12e-7 2.18e-6
All phenotypes (RAF1, YWHAE) 3.128 6.99e-7 3.91e-6
All phenotypes (RAF1, YWHAH) 3.081 8.97e-7 4.19e-6
All phenotypes (DIRAS3, KRAS) 2.683 0.000379 0.00118
All phenotypes (ERBB2, PTPN11) 2.357 0.00269 0.00753
All phenotypes (MET, PTPN11) 1.920 0.0443 0.087
All phenotypes (GRB2, PTPN11) 1.892 3.84e-5 0.000134
All phenotypes (KRAS, RAF1) 1.794 0.0466 0.087
All phenotypes (KRAS, RALGDS) 1.794 0.0466 0.087
All phenotypes (CRKL, PTPN11) 1.104 0.0273 0.0637
All phenotypes (PTPN11, PTPN11) 0.948 0.00686 0.0174
Noonan syndrome 1 (NS1) [MIM:163950] (ERBB2, PTPN11) 2.357 0.00269 0.00807
Noonan syndrome 1 (NS1) [MIM:163950] (MET, PTPN11) 1.920 0.0443 0.0532
Noonan syndrome 1 (NS1) [MIM:163950] (GRB2, PTPN11) 1.892 3.84e-5 0.00023
Noonan syndrome 1 (NS1) [MIM:163950] (CRKL, PTPN11) 1.104 0.0273 0.0409
Noonan syndrome 1 (NS1) [MIM:163950] (PTPN11, PTPN11) 0.948 0.00686 0.0137
Noonan syndrome 3 (NS3) [MIM:609942] (DIRAS3, KRAS) 2.683 0.000379 0.00152
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, RAF1) 1.794 0.0466 0.0621
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, RALGDS) 1.794 0.0466 0.0621
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, SFN) 3.935 1.12e-7 5.46e-7
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAZ) 3.450 1.08e-6 1.08e-6
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAB) 3.391 1.73e-7 5.46e-7
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAG) 3.280 3.12e-7 5.46e-7
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAQ) 3.280 3.12e-7 5.46e-7
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAE) 3.128 6.99e-7 9.78e-7
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAH) 3.081 8.97e-7 1.05e-6
Obesity Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886] (NTRK2, SH2B1) 5.624 0.0203 0.0203
Orofacial cleft All phenotypes (KDM1A, SNAI1) 4.438 9.82e-5 0.000389
All phenotypes (KDM1A, INSM1) 4.348 0.000118 0.000389
All phenotypes (KDM1A, HIST3H3) 4.183 0.000167 0.000389
All phenotypes (KDM1A, HIST1H3A) 4.035 0.000227 0.000397
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) 4.035 0.000227 0.000227
Osteogenesis imperfecta All phenotypes (COL3A1, SPARC) 3.777 0.00532 0.0532
Osteogenesis imperfecta 17 (OI17) [MIM:616507] (COL3A1, SPARC) 3.777 0.00532 0.00532
Osteogenesis imperfecta 1 (OI1) [MIM:166200] (COL1A1, FN1) 2.592 0.00844 0.0506
Osteogenesis imperfecta 2 (OI2) [MIM:166210] (COL1A1, COL9A3) 1.235 0.0303 0.0974
Osteogenesis imperfecta 2 (OI2) [MIM:166210] (COL1A1, COL9A1) 1.211 0.0325 0.0974
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, KRT26) 0.846 0.0162 0.119
All phenotypes (KRT6A, KRT13) 0.820 0.0185 0.119
All phenotypes (KRT6A, KRT27) 0.820 0.0185 0.119
All phenotypes (KRT6A, KRT35) 0.820 0.0185 0.119
All phenotypes (KRT6A, KRT31) 0.795 0.0211 0.119
All phenotypes (KRT6A, KRT16) 0.785 0.0191 0.119
All phenotypes (KRT6A, KRT15) 0.783 0.0415 0.153
All phenotypes (KRT34, KRT6A) 0.770 0.024 0.119
All phenotypes (KRT36, KRT6A) 0.770 0.024 0.119
All phenotypes (KRT6A, KRT19) 0.770 0.024 0.119
All phenotypes (KRT38, KRT6A) 0.746 0.0272 0.119
All phenotypes (KRT6A, KRT40) 0.746 0.0272 0.119
All phenotypes (KRT6A, KRT17) 0.656 0.0385 0.153
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT26) 0.846 0.0162 0.0436
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT13) 0.820 0.0185 0.0436
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT27) 0.820 0.0185 0.0436
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT35) 0.820 0.0185 0.0436
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT31) 0.795 0.0211 0.0436
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT15) 0.783 0.0415 0.0604
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT34, KRT6A) 0.770 0.024 0.0436
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT36, KRT6A) 0.770 0.024 0.0436
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT19) 0.770 0.024 0.0436
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT16) 0.755 0.0467 0.0623
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT38, KRT6A) 0.746 0.0272 0.0436
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT40) 0.746 0.0272 0.0436
Peroxisome biogenesis disorder Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] (PEX1, PEX6) 2.078 0.0194 0.0194
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] (FGF1, FGFR1) 4.342 0.0493 0.263
Pfeiffer syndrome (PS) [MIM:101600] (FGF19, FGFR1) 4.342 0.0493 0.263
Pheochromocytoma Pheochromocytoma (PCC) [MIM:171300] (RET, LRRK1) 4.713 0.0381 0.121
Pheochromocytoma (PCC) [MIM:171300] (RET, MAPK1) 4.620 0.0407 0.121
Pheochromocytoma (PCC) [MIM:171300] (RET, MAPK3) 4.491 0.0445 0.121
Pheochromocytoma (PCC) [MIM:171300] (EGFR, RET) 4.372 0.0483 0.121
Piebaldism Piebald trait (PBT) [MIM:172800] (KIT, KIT) 1.320 0.0329 0.264
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) 2.423 0.0459 0.25
Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] (EXOSC9, EXOSC3) 2.423 0.0459 0.0918
Pseudohypoaldosteronism All phenotypes (KLHL2, WNK4) 4.853 4.14e-5 0.000145
All phenotypes (WNK4, KLHL3) 2.854 2.61e-6 1.83e-5
All phenotypes (KLHL2, KLHL3) 1.344 0.044 0.103
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) 2.277 0.00125 0.00499
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (KLHL2, KLHL3) 1.344 0.044 0.0842
Pseudohypoparathyroidism Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] (GNAS, ADCY2) 2.548 0.0418 0.0836
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (ADORA2A, GNAS) 4.133 0.00325 0.0065
Pyropoikilocytosis Hereditary pyropoikilocytosis (HPP) [MIM:266140] (SPTA1, SPTB) 4.716 0.0377 0.0754
Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome (RMS) [MIM:262190] (INSR, GRB10) 3.237 0.0177 0.0672
Rabson-Mendenhall syndrome (RMS) [MIM:262190] (INSR, GRB14) 3.237 0.0177 0.0672
Rabson-Mendenhall syndrome (RMS) [MIM:262190] (INSR, CSK) 2.967 0.0252 0.0672
Radioulnar synostosis with amegakaryocytic thrombocytopenia Thrombocytopenia 6 (THC6) [MIM:616937] (SRC, PTPN1) 6.016 0.0155 0.0618
Renal cell carcinoma All phenotypes (MET, SH2B3) 5.059 2.76e-7 1.38e-6
All phenotypes (MET, SH2B1) 4.796 6.76e-7 2.53e-6
All phenotypes (SH2B2, MET) 4.474 0.000306 0.000765
All phenotypes (MET, TXK) 2.766 1.54e-7 1.38e-6
All phenotypes (MET, TEC) 2.708 2.25e-7 1.38e-6
All phenotypes (MET, SRC) 2.633 0.00318 0.00597
All phenotypes (MET, BTK) 2.391 0.000149 0.000448
All phenotypes (MET, ITK) 2.315 0.00229 0.00491
All phenotypes (MET, KDR) 2.082 0.0123 0.0204
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SH2B3) 5.059 2.76e-7 1.29e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SH2B1) 4.796 6.76e-7 2.37e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (SH2B2, MET) 4.474 0.000306 0.000714
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, TXK) 2.766 1.54e-7 1.29e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, TEC) 2.708 2.25e-7 1.29e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SRC) 2.633 0.00318 0.00557
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, BTK) 2.391 0.000149 0.000418
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, ITK) 2.315 0.00229 0.00459
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, KDR) 2.082 0.0123 0.0191
Retinitis pigmentosa All phenotypes (SNRNP200, PRPF8) 2.235 0.00327 0.0458
Retinitis pigmentosa 13 (RP13) [MIM:600059] (SNRNP200, PRPF8) 2.799 0.00147 0.00147
Richieri-Costa-Pereira syndrome Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305] (EIF4A3, UPF3B) 4.911 0.0332 0.0665
Scalp-ear-nipple syndrome Scalp-ear-nipple syndrome (SENS) [MIM:181270] (KCTD1, KCTD1) 0.821 0.0332 0.0332
Sialuria Sialuria (SIALURIA) [MIM:269921] (GNE, GNE) 2.356 0.00745 0.00745
Spinal muscular atrophy All phenotypes (SMN1, SMN1) 2.091 0.00451 0.0181
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
Split-hand/foot malformation Split-hand/foot malformation 4 (SHFM4) [MIM:605289] (PPP1R13L, TP63) 3.396 0.0115 0.0202
Split-hand/foot malformation 4 (SHFM4) [MIM:605289] (TP53BP2, TP63) 3.281 0.0135 0.0202
Symphalangism All phenotypes (BMP2, NOG) 1.932 0.00147 0.00399
All phenotypes (BMP7, NOG) 1.892 0.00171 0.00399
All phenotypes (GDF5, NOG) 1.650 0.000689 0.00399
Symphalangism, proximal 1A (SYM1A) [MIM:185800] (GDF5, NOG) 1.972 0.00126 0.00228
Symphalangism, proximal 1A (SYM1A) [MIM:185800] (BMP2, NOG) 1.932 0.00147 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] (GDF5, NOG) 2.557 0.0049 0.00579
Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (BMP2, NOG) 2.517 0.00534 0.00579
Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (BMP7, NOG) 2.477 0.00579 0.00579
Thanatophoric dysplasia All phenotypes (FGFR3, FGFR3) 2.502 0.0451 0.101
Thanatophoric dysplasia 1 (TD1) [MIM:187600] (FGFR3, FGFR3) 2.724 0.0333 0.0755
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 Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] (ERCC2, GTF2H2) 2.662 0.0389 0.0437
Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] (ERCC2, GTF2H2C) 2.569 0.0437 0.0437
Verheij syndrome Verheij syndrome (VRJS) [MIM:615583] (RNPS1, PUF60) 5.192 0.0274 0.0395
Verheij syndrome (VRJS) [MIM:615583] (HNRNPA3, PUF60) 4.662 0.0395 0.0395
Von Hippel-Lindau disease Von Hippel-Lindau disease (VHLD) [MIM:193300] (VHL, TCEB1) 0.695 0.00151 0.00907
Von Willebrand disease All phenotypes (VWF, GP1BA) 1.417 0.014 0.0419
Pseudo-von Willebrand disease (VWDP) [MIM:177820] (VWF, GP1BA) 2.817 0.00286 0.00572
Waardenburg syndrome Waardenburg syndrome 1 (WS1) [MIM:193500] (POU3F2, PAX3) 1.143 0.0447 0.0893
Weaver syndrome Weaver syndrome (WVS) [MIM:277590] (EZH2, JARID2) 4.507 0.0435 0.087

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