Please wait...

Please wait...

Top 10 diseases (for # mutations)
Top 10 diseases Muts Prots Ints
Hemophilia 610 2 16
Epileptic encephalopathy 540 41 189
Mucopolysaccharidosis 534 11 9
Cardiomyopathy 476 44 793
Charcot-Marie-Tooth disease 401 40 466
Long QT syndrome 361 14 54
Retinitis pigmentosa 345 55 348
Marfan syndrome 321 1 19
Deafness 300 59 402
Glycogen storage disease 293 17 70
Top 10 proteins (for # mutations)
Top 10 proteins Uniprot AC Muts Diseases Ints
F8 P00451 472 1 11
FBN1 P35555 352 5 17
PAH P00439 206 2 3
MYH7 P12883 200 3 13
ATP7B P35670 195 1 5
GJB1 P08034 188 2 2
GLA P06280 180 1 3
AR P10275 158 1 157
SCN5A Q14524 154 9 19
NPC1 O15118 151 1 3
Diseases with potential edgetic perturbations
DiseasePhenotypeRelevant proteins
ADULT syndrome Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285] TP63
ARTS syndrome ARTS syndrome (ARTS) [MIM:301835] PRPS1
Achondroplasia Achondroplasia (ACH) [MIM:100800] FGFR3
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 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS
Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG
Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] HNRNPA1
Aniridia Aniridia 1 (AN1) [MIM:106210] PAX6
Antley-Bixler syndrome Antley-Bixler syndrome, without genital anomalies or disordered steroidogenesis (ABS2) [MIM:207410] FGFR2
Apert syndrome Apert syndrome (APRS) [MIM:101200] FGFR2
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
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
Basal ganglia calcification Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007] PDGFRB
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
Bosch-Boonstra-Schaaf optic atrophy syndrome Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] NR2F1
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
CHARGE syndrome (CHARGES) [MIM:214800] CHARGE syndrome (CHARGES) [MIM:214800] CHD7
Camptodactyly tall stature and hearing loss syndrome Cardiospondylocarpofacial syndrome (CSCF) [MIM:157800] MAP3K7
Camurati-Engelmann disease Camurati-Engelmann disease (CAEND) [MIM:131300] TGFB1
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 1S (CMD1S) [MIM:613426] MYH7
Cardiomyopathy, dilated 1W (CMD1W) [MIM:611407] VCL
Cardiomyopathy, dilated 1Y (CMD1Y) [MIM:611878] TPM1
Cardiomyopathy, dilated 1Z (CMD1Z) [MIM:611879] TNNC1
Cardiomyopathy, familial hypertrophic 3 (CMH3) [MIM:115196] TPM1
Cardiomyopathy, familial hypertrophic 6 (CMH6) [MIM:600858] PRKAG2
Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] TNNI3
Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197] Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197] MYBPC3
Carney complex Carney complex 1 (CNC1) [MIM:160980] PRKAR1A
Cataract Cataract 17, multiple types (CTRCT17) [MIM:611544] CRYBB1
Cataract 30 (CTRCT30) [MIM:116300] VIM
Cerebellar ataxia and hypogonadotropic hypogonadism Hypogonadotropic hypogonadism 24 without anosmia (HH24) [MIM:229070] FSHB
Cerebral amyloid angiopathy Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] APP
Cerebral cavernous malformations Cerebral cavernous malformations 1 (CCM1) [MIM:116860] KRIT1
Cerebral cavernous malformations 2 (CCM2) [MIM:603284] CCM2
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
Childhood cancer retinoblastoma (RB) [MIM:180200] Childhood cancer retinoblastoma (RB) [MIM:180200] RB1
Chronic granulomatous disease Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710] NCF2
Coagulation factor deficiency Factor XI deficiency (FA11D) [MIM:612416] F11
Coffin-Lowry syndrome Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3
Colorectal cancer Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] HRAS, NRAS
Colorectal cancer (CRC) [MIM:114500] Colorectal cancer (CRC) [MIM:114500] MLH1, CTNNB1, BRAF
Combined oxidative phosphorylation deficiency Combined oxidative phosphorylation deficiency 19 (COXPD19) [MIM:615595] LYRM4
Complement factors deficiency Complement factor I deficiency (CFI deficiency) [MIM:610984] CFI
Cone-rod dystrophy Cone-rod dystrophy 2 (CORD2) [MIM:120970] CRX
Congenital bilateral absence of the vas deferens Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR
Congenital central hypoventilation syndrome (CCHS) [MIM:209880] Congenital central hypoventilation syndrome (CCHS) [MIM:209880] RET
Congenital clubfoot Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) [MIM:119800] PITX1
Congenital heart defects Sifrim-Hitz-Weiss syndrome (SIHIWES) [MIM:617159] CHD4
Takenouchi-Kosaki syndrome (TKS) [MIM:616737] CDC42
Congenital heart defects and ectodermal dysplasia Congenital heart defects and ectodermal dysplasia (CHDED) [MIM:617364] PRKD1
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD) [MIM:617360] CDK13
Congenital short bowel syndrome Congenital short bowel syndrome (CSBS) [MIM:615237] CLMP
Cornelia de Lange syndrome Cornelia de Lange syndrome 4 (CDLS4) [MIM:614701] RAD21
Cortical dysplasia complex with other brain malformations Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039] TUBB3
Cowden disease Cowden syndrome 1 (CWS1) [MIM:158350] PTEN
Craniosynostosis Craniosynostosis 3 (CRS3) [MIM:615314] TCF12
Trigonocephaly 1 (TRIGNO1) [MIM:190440] FGFR1
Crohn disease Inflammatory bowel disease 1 (IBD1) [MIM:266600] NOD2
Crouzon syndrome Crouzon syndrome (CS) [MIM:123500] FGFR2
Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247] FGFR3
Cutis laxa Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100] FBLN5
Cyanosis Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2
Cyclic haematopoiesis (CH) [MIM:162800] Cyclic haematopoiesis (CH) [MIM:162800] ELANE
Cystic fibrosis 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 letalis, with pyloric atresia (EB-PA) [MIM:226730] ITGB4
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, 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
Estrogen resistance Estrogen resistance (ESTRR) [MIM:615363] ESR1
Faciocutaneoskeletal syndrome Costello syndrome (CSTLO) [MIM:218040] HRAS
Factor X deficiency (FA10D) [MIM:227600] Factor X deficiency (FA10D) [MIM:227600] F10
Familial advanced sleep-phase syndrome Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224] CSNK1D
Familial hyperproinsulinemia Hyperproinsulinemia (HPRI) [MIM:616214] INS
Fanconi anemia Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] BRCA2
Fanconi anemia complementation group T (FANCT) [MIM:616435] UBE2T
Fanconi anemia, complementation group R (FANCR) [MIM:617244] RAD51
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 1, open angle, E (GLC1E) [MIM:137760] Glaucoma 1, open angle, E (GLC1E) [MIM:137760] OPTN
Glucocorticoid resistance, generalized (GCCR) [MIM:615962] Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1
Glutaric aciduria Glutaric aciduria 2B (GA2B) [MIM:231680] ETFB
Glycogen storage disease of heart Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740] PRKAG2
Growth hormone deficiency Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100] GH1
Growth hormone insensitivity Growth hormone insensitivity with immunodeficiency (GHII) [MIM:245590] STAT5B
Growth hormone insensitivity, partial (GHIP) [MIM:604271] GHR
Growth retardation Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] CSNK2A1
Hartsfield syndrome Hartsfield syndrome (HRTFDS) [MIM:615465] FGFR1
Hemolytic uremic syndrome Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] CFH
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] C3
Hemophilia A (HEMA) [MIM:306700] Hemophilia A (HEMA) [MIM:306700] F8
Hemorrhagic 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
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 33 (IMD33) [MIM:300636] IKBKG
Immunodeficiency 9 (IMD9) [MIM:612782] ORAI1
Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B
Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP
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] NRAS, FGFR3
Keratosis Keratosis, seborrheic (KERSEB) [MIM:182000] FGFR3
Lacrimo-auriculo-dento-digital syndrome Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] FGFR2
Langer mesomelic dysplasia Langer mesomelic dysplasia (LMD) [MIM:249700] SHOX
Leber congenital amaurosis 7 (LCA7) [MIM:613829] 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
Lung cancer (LNCR) [MIM:211980] Lung cancer (LNCR) [MIM:211980] BRAF
Lymphoma Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A
MASP2 deficiency MASP2 deficiency (MASPD) [MIM:613791] MASP2
MYD88 deficiency MYD88 deficiency (MYD88D) [MIM:612260] MYD88
Mandibuloacral dysplasia Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] ZMPSTE24
Mandibulofacial dysostosis Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] EFTUD2
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 2 (MPPH2) [MIM:615937] AKT3
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387] Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387] PIK3R2
Meier-Gorlin syndrome Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] ORC1
Meier-Gorlin syndrome 2 (MGORS2) [MIM:613800] ORC4
Melanoma Melanoma, cutaneous malignant 10 (CMM10) [MIM:615848] POT1
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] CDK4
Melanosis, neurocutaneous Melanosis, neurocutaneous (NCMS) [MIM:249400] NRAS
Mental retardation Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASK
Mental retardation, 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 42 (MRD42) [MIM:616973] GNB1
Mental retardation, autosomal dominant 44 (MRD44) [MIM:617061] TRIO
Mental retardation, autosomal recessive 34, with variant lissencephaly (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
Myopathy, tubular aggregate, 2 (TAM2) [MIM:615883] ORAI1
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, 5 (HSAN5) [MIM:608654] NGF
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] BRAF, CASP10
Noonan syndrome Noonan syndrome 1 (NS1) [MIM:163950] PTPN11
Noonan syndrome 3 (NS3) [MIM:609942] KRAS
Noonan syndrome 4 (NS4) [MIM:610733] SOS1
Noonan syndrome 5 (NS5) [MIM:611553] RAF1
Noonan syndrome 6 (NS6) [MIM:613224] NRAS
Noonan syndrome 7 (NS7) [MIM:613706] BRAF
Noonan-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 with or without ankyloglossia, X-linked (CPX) [MIM:303400] TBX22
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] KDM1A
Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] BMP4
Osseous heteroplasia Progressive osseous heteroplasia (POH) [MIM:166350] GNAS
Osteogenesis imperfecta Osteogenesis imperfecta 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 carcinoma Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225] NLRP1
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 1, autosomal dominant (PARK1) [MIM:168601] SNCA
Parkinson disease 8 (PARK8) [MIM:607060] LRRK2
Periodic fever Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A
Periventricular heterotopia Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201] NEDD4L
Peroxisome biogenesis disorder Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370] PEX5
Peutz-Jeghers syndrome Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] FGFR2, FGFR1
Pheochromocytoma (PCC) [MIM:171300] Pheochromocytoma (PCC) [MIM:171300] VHL, RET
Phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1
Pick disease of the brain Pick disease of the brain (PIDB) [MIM:172700] MAPT
Piebaldism Piebald trait (PBT) [MIM:172800] KIT
Pigmented adrenocortical disease Primary pigmented nodular adrenocortical disease 4 (PPNAD4) [MIM:615830] PRKACA
Pilomatrixoma Pilomatrixoma (PTR) [MIM:132600] CTNNB1
Pitt-Hopkins syndrome Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4
Pituitary hormone deficiency Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] PROP1
Plasminogen deficiency Plasminogen deficiency (PLGD) [MIM:217090] PLG
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
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 Albright hereditary osteodystrophy (AHO) [MIM:103580] GNAS
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 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
Retinitis pigmentosa (RP) [MIM:268000] Retinitis pigmentosa (RP) [MIM:268000] CRX
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
Tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome (TCC) [MIM:186570] NOG
Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A
Thalassemia Beta-thalassemia (B-THAL) [MIM:613985] HBB
Thanatophoric dysplasia Thanatophoric dysplasia 1 (TD1) [MIM:187600] FGFR3
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
Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] FZD4
Von Willebrand disease Pseudo-von Willebrand disease (VWDP) [MIM:177820] GP1BA
Waardenburg syndrome Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3
Waardenburg syndrome 3 (WS3) [MIM:148820] PAX3
Weaver syndrome Weaver syndrome (WVS) [MIM:277590] EZH2
Wilms tumor Wilms tumor 1 (WT1) [MIM:194070] WT1
Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome (WPWS) [MIM:194200] PRKAG2
Xeroderma pigmentosum Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2
Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH
Yao syndrome Yao syndrome (YAOS) [MIM:617321] NOD2
Zimmermann-Laband syndrome Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] KCNH1

[Show all]

Diseases with mutations on the two sides of the same interaction
DiseasePhenotypeRelevant interactions
ADULT syndrome Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285] (TP53,TP63)
Acrodysostosis Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] (PRKAR1A,PRKACA)
Adrenal hyperplasia ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080] (GNB1,GNAS)
Adrenal hypoplasia, congenital (AHC) [MIM:300200] (NR0B1,NR5A1)
Afibrinogenemia Congenital afibrinogenemia (CAFBN) [MIM:202400] (FGB,FGG), (F2,FGA), (FGA,FGB), (FGA,FGG)
Agammaglobulinemia X-linked agammaglobulinemia (XLA) [MIM:300755] (MET,BTK)
Age-related macular degeneration Macular degeneration, age-related, 3 (ARMD3) [MIM:608895] (EFEMP2,FBLN5)
Macular degeneration, age-related, 4 (ARMD4) [MIM:610698] (C3,CFH)
Neuropathy, hereditary, with or without age-related macular degeneration (HNARMD) [MIM:608895] (EFEMP2,FBLN5)
Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] (RNASEH2A,RNASEH2B), (RNASEH2B,RNASEH2C)
Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329] (RNASEH2A,RNASEH2C), (RNASEH2B,RNASEH2C)
Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333] (RNASEH2A,RNASEH2B), (RNASEH2A,RNASEH2C)
Alexander disease Alexander disease (ALXDRD) [MIM:203450] (VIM,GFAP)
Antithrombin III deficiency Antithrombin III deficiency (AT3D) [MIM:613118] (F10,SERPINC1), (F2,SERPINC1), (F9,SERPINC1)
Apert syndrome Apert syndrome (APRS) [MIM:101200] (FGF10,FGFR2)
Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] Atrial septal defect 7, with or without atrioventricular conduction defects (ASD7) [MIM:108900] (SHOX,NKX2-5)
Autoimmune disease, multisystem, infantile-onset, Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (STAT3,STAT1)
Coffin-Siris syndrome 4 (CSS4) [MIM:614609] (SMARCA4,CHD4)
Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] (FAS,FADD)
Bardet-Biedl syndrome Bardet-Biedl syndrome 10 (BBS10) [MIM:615987] (BBS12,BBS10)
Bardet-Biedl syndrome 12 (BBS12) [MIM:615989] (BBS12,BBS10)
Basal ganglia calcification Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007] (RAF1,PDGFRB)
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)
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)
Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426] (MYH7,XRCC4), (MYL3,MYH7)
Cardiomyopathy, dilated 1Z (CMD1Z) [MIM:611879] (TNNI3,TNNC1)
Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600] (MYH7,XRCC4), (MYL3,MYH7), (MYL2,MYH7)
Cardiomyopathy, familial hypertrophic 10 (CMH10) [MIM:608758] (MYL2,MYH7)
Cardiomyopathy, familial hypertrophic 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 hypertrophic 8 (CMH8) [MIM:608751] (MYL3,MYH7)
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)
Coagulation factor deficiency Factor II deficiency (FA2D) [MIM:613679] (F2,FGB), (F2,SERPINC1), (F2,GP1BA), (F2,PROC), (F2,SERPIND1), (F2,FGA)
Colorectal cancer Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470] (HRAS,NF1), (HRAS,SOS1)
Colorectal cancer (CRC) [MIM:114500] Colorectal cancer (CRC) [MIM:114500] (PIK3R1,PIK3CA)
Complement factors deficiency Complement factor H deficiency (CFHD) [MIM:609814] (C3,CFH), (CFI,CFH)
Cone-rod dystrophy Cone dystrophy retinal 3B (RCD3B) [MIM:610356] (KCNB1,KCNV2)
Congenital clubfoot Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) [MIM:119800] (PROP1,PITX1), (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)
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)
Enhanced S cone syndrome Enhanced S cone syndrome (ESCS) [MIM:268100] (PPARG,NR2E3)
Epidermolysis bullosa Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760] (KRT16,KRT5), (KRT86,KRT14), (KRT14,KRT81), (KRT5,KRT25), (KRT14,KRT1), (KRT14,KRT5), (KRT14,KRT3)
Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900] (KRT16,KRT5), (KRT86,KRT14), (KRT14,KRT81), (KRT5,KRT25), (KRT14,KRT1), (KRT14,KRT5), (KRT14,KRT3)
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT16,KRT5), (KRT86,KRT14), (KRT14,KRT81), (KRT5,KRT25), (KRT14,KRT1), (KRT14,KRT5), (KRT14,KRT3)
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 2 (EVR2) [MIM:305390] (NDP,FZD4)
Faciocutaneoskeletal syndrome Costello syndrome (CSTLO) [MIM:218040] (HRAS,NF1), (HRAS,SOS1)
Factor X deficiency (FA10D) [MIM:227600] Factor X deficiency (FA10D) [MIM:227600] (F10,SERPINC1)
Familial hypercholesterolemia (FH) [MIM:143890] Familial hypercholesterolemia (FH) [MIM:143890] (LDLR,PCSK9)
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 1, open angle, E (GLC1E) [MIM:137760] 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)
Heimler syndrome Heimler syndrome 1 (HMLR1) [MIM:234580] (PEX1,PEX6)
Heimler syndrome 2 (HMLR2) [MIM:616617] (PEX1,PEX6)
Hemolytic uremic syndrome Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] (C3,CFH)
Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922] (C3,CD46)
Hemolytic uremic syndrome atypical 3 (AHUS3) [MIM:612923] (CFI,CFH)
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3,CD46), (C3,CFH)
Hemophilia B (HEMB) [MIM:306900] Hemophilia B (HEMB) [MIM:306900] (F9,SERPINC1)
Hepatocellular carcinoma Hepatocellular carcinoma (HCC) [MIM:114550] (PIK3R1,PIK3CA), (MET,BTK)
High density lipoprotein deficiency High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] (ABCA1,ABCA12)
Hypercholesterolemia 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 (HTOCD) [MIM:239850] 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)
Immunodeficiency Immunodeficiency 31A (IMD31A) [MIM:614892] (STAT3,STAT1)
Infections recurrent associated with encephalopathy hepatic dysfunction and cardiovascular malformations Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759] (FAS,FADD)
Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) [MIM:123150] (FGF10,FGFR2)
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)
Langer mesomelic dysplasia Langer mesomelic dysplasia (LMD) [MIM:249700] (SHOX,NKX2-5)
Laron syndrome Laron syndrome (LARS) [MIM:262500] (GH1,GHR)
Leber congenital amaurosis 7 (LCA7) [MIM:613829] Leber congenital amaurosis 7 (LCA7) [MIM:613829] (CRX,HNF1B)
Leigh syndrome Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] (PDHA1,PDHB)
Leigh syndrome (LS) [MIM:256000] Leigh syndrome (LS) [MIM:256000] (POLG,POLG2)
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)
Lipodystrophy Lipodystrophy, familial partial, 3 (FPLD3) [MIM:604367] (PPARG,NR2E3)
Lissencephaly Lissencephaly 3 (LIS3) [MIM:611603] (TUBB3,TUBA1A)
Loeys-Dietz syndrome Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] (SMAD3,SMAD4)
Long QT syndrome 3 (LQT3) [MIM:603830] Long QT syndrome 3 (LQT3) [MIM:603830] (FGF12,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)
McCune-Albright syndrome McCune-Albright syndrome (MAS) [MIM:174800] (GNB1,GNAS)
Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] (PIK3R1,PIK3CA)
Meier-Gorlin syndrome Meier-Gorlin syndrome 1 (MGORS1) [MIM:224690] (ORC4,ORC1)
Meier-Gorlin syndrome 2 (MGORS2) [MIM:613800] (ORC4,ORC1)
Melanoma Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] (CDK4,CDKN2A)
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4,CDKN2A)
Mental retardation Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNB1,GNAS)
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)
Norrie disease Norrie disease (ND) [MIM:310600] (NDP,FZD4)
Osseous heteroplasia Progressive osseous heteroplasia (POH) [MIM:166350] (GNB1,GNAS)
Osteogenesis imperfecta Osteogenesis imperfecta 1 (OI1) [MIM:166200] (COL1A1,COL1A2)
Osteogenesis imperfecta 17 (OI17) [MIM:616507] (COL3A1,SPARC)
Osteogenesis imperfecta 2 (OI2) [MIM:166210] (COL1A1,COL1A2)
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)
Pachyonychia congenita 4 (PC4) [MIM:615728] (KRT6B,KRT25)
Palmoplantar keratoderma Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760] (KRT4,KRT25), (KRT5,KRT25), (KRT2,KRT25), (KRT6B,KRT25), (KRT83,KRT25), (KRT3,KRT25), (KRT1,KRT25), (KRT86,KRT25), (KRT6A,KRT25)
Parietal foramina Parietal foramina 1 (PFM1) [MIM:168500] (POU1F1,MSX2), (MSX2,PITX1)
Parkinson disease Parkinson disease 8 (PARK8) [MIM:607060] (PRKACA,LRRK2)
Peroxisome biogenesis disorder Peroxisome biogenesis disorder 1B (PBD1B) [MIM:601539] (PEX1,PEX6)
Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862] (PEX1,PEX6)
Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] (PEX1,PEX6)
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] (FGF10,FGFR2)
Pheochromocytoma (PCC) [MIM:171300] Pheochromocytoma (PCC) [MIM:171300] (SDHB,SDHA)
Pigmented adrenocortical disease Primary pigmented nodular adrenocortical disease 4 (PPNAD4) [MIM:615830] (PRKACA,LRRK2), (PRKAR1A,PRKACA)
Pitt-Hopkins syndrome Pitt-Hopkins syndrome (PTHS) [MIM:610954] (TCF4,TWIST2)
Pituitary hormone deficiency Pituitary hormone deficiency, combined, 1 (CPHD1) [MIM:613038] (POU1F1,MSX2)
Pituitary hormone deficiency, combined, 2 (CPHD2) [MIM:262600] (PROP1,PITX1)
Polycystic kidney disease Polycystic kidney disease 2 (PKD2) [MIM:613095] (PKD1,PKD2)
Polycystic kidney disease 1 (PKD1) [MIM:173900] Polycystic kidney disease 1 (PKD1) [MIM:173900] (PKD1,PKD2)
Premature ovarian failure Premature ovarian failure 7 (POF7) [MIM:612964] (NR0B1,NR5A1)
Progressive external ophthalmoplegia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131] (POLG,POLG2)
Pseudohypoaldosteronism Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] (WNK4,KLHL3)
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (WNK4,KLHL3)
Pseudohypoparathyroidism Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] (GNB1,GNAS)
Pyropoikilocytosis Hereditary pyropoikilocytosis (HPP) [MIM:266140] (SPTA1,SPTB)
Pyruvate carboxylase deficiency Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111] (PDHA1,PDHB)
Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome (RMS) [MIM:262190] (INS,INSR)
Renal cell carcinoma Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET,BTK)
Retinitis pigmentosa Retinitis pigmentosa 13 (RP13) [MIM:600059] (SNRNP200,PRPF8)
Retinitis pigmentosa 33 (RP33) [MIM:610359] Retinitis pigmentosa 33 (RP33) [MIM:610359] (SNRNP200,PRPF8)
SHORT syndrome SHORT syndrome (SHORTS) [MIM:269880] (PIK3R1,PIK3CA)
Schimmelpenning-Feuerstein-Mims syndrome Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200] (HRAS,NF1), (HRAS,SOS1)
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)
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)
Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] (NDP,FZD4)
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)
Zimmermann-Laband syndrome Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] (KCNH1,KCNB1)

[Show all]

Diseases having interaction interfaces enriched with mutations
Disease Disease phenotype (**) Interaction Log_2 Enrich. P-val Corr. P-val
3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] (HMGCS2, HMGCS2) 1.919 0.0311 0.0311
All phenotypes (HMGCS2, HMGCS2) 1.919 0.0311 0.0621
Acyl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] (ACADVL, ACADVL) 0.771 0.0283 0.0283
All phenotypes (ACADVL, ACADVL) 0.771 0.0283 0.113
Adenomatous polyposis Familial adenomatous polyposis (FAP) [MIM:175100] (APC, DLG3) 4.852 0.0342 0.0398
Familial adenomatous polyposis (FAP) [MIM:175100] (APC, DLG1) 4.629 0.0398 0.0398
Adrenal hyperplasia ACTH-independent macronodular adrenal hyperplasia 1 (AIMAH1) [MIM:219080] (GNB1, GNAS) 2.920 0.0175 0.0349
All phenotypes (GNB1, GNAS) 2.920 0.0175 0.0698
Adrenocorticotropic hormone deficiency ACTH deficiency, isolated (IAD) [MIM:201400] (TBX19, VENTX) 4.939 0.0326 0.0652
ACTH deficiency, isolated (IAD) [MIM:201400] (TBX19, PITX1) 4.524 0.0435 0.0652
Adrenoleukodystrophy Adrenoleukodystrophy (ALD) [MIM:300100] (ABCD1, ABCD2) 1.144 0.00543 0.00968
Adrenoleukodystrophy (ALD) [MIM:300100] (ABCD3, ABCD1) 1.048 0.00645 0.00968
Adrenoleukodystrophy (ALD) [MIM:300100] (ABCD1, ABCD1) 1.000 0.012 0.012
Agammaglobulinemia All phenotypes (MET, BTK) 0.564 0.0375 0.263
X-linked agammaglobulinemia (XLA) [MIM:300755] (MET, BTK) 0.564 0.0375 0.188
Alexander disease Alexander disease (ALXDRD) [MIM:203450] (KRT19, GFAP) 0.907 0.0292 0.13
Alexander disease (ALXDRD) [MIM:203450] (GFAP, KRT27) 0.881 0.0326 0.13
Alexander disease (ALXDRD) [MIM:203450] (GFAP, KRT31) 0.881 0.0326 0.13
Alzheimer disease All phenotypes (APP, PITRM1) 3.284 0.0173 0.0866
All phenotypes (APP, LCN2) 2.754 0.0343 0.0983
All phenotypes (IGKC, APP) 2.647 0.0393 0.0983
All phenotypes (APP, APP) 1.482 1.58e-6 1.58e-5
Alzheimer disease 1 (AD1) [MIM:104300] (APP, PITRM1) 3.284 0.0173 0.0606
Alzheimer disease 1 (AD1) [MIM:104300] (APP, LCN2) 2.754 0.0343 0.0688
Alzheimer disease 1 (AD1) [MIM:104300] (IGKC, APP) 2.647 0.0393 0.0688
Alzheimer disease 1 (AD1) [MIM:104300] (APP, APP) 1.482 1.58e-6 1.11e-5
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) 5.865 0.0172 0.0858
All phenotypes (FUS, TNPO1) 3.281 1.4e-12 2.1e-11
All phenotypes (HNRNPA1, TNPO1) 3.046 0.0147 0.0858
All phenotypes (VCP, VCP) 1.095 0.048 0.18
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) 5.865 0.0172 0.0172
Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] (HNRNPA1, TNPO1) 3.046 0.0147 0.0147
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] (CALM3, MYLK) 5.085 0.0295 0.0295
Apert syndrome Apert syndrome (APRS) [MIM:101200] (FGF10, FGFR2) 3.945 0.000274 0.00078
Apert syndrome (APRS) [MIM:101200] (FGF5, FGFR2) 3.909 0.000295 0.00078
Apert syndrome (APRS) [MIM:101200] (FGF2, FGFR2) 3.775 0.00039 0.00078
Apert syndrome (APRS) [MIM:101200] (FGF3, FGFR2) 3.775 0.00039 0.00078
Apert syndrome (APRS) [MIM:101200] (FGFR2, FGF8) 3.512 0.000674 0.00108
Apert syndrome (APRS) [MIM:101200] (FGF7, FGFR2) 3.336 0.000971 0.00129
Apert syndrome (APRS) [MIM:101200] (FGF1, FGFR2) 3.057 0.00173 0.00198
Atrial septal defect All phenotypes (MYH6, MYL7) 4.859 0.0344 0.103
Atrial septal defect 3 (ASD3) [MIM:614089] (MYH6, MYL7) 4.859 0.0344 0.0344
Autoimmune disease, multisystem, infantile-onset, All phenotypes (STAT3, BMX) 3.779 0.00758 0.144
All phenotypes (STAT3, STAT2) 2.836 0.0267 0.247
Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (STAT3, BMX) 3.779 0.00758 0.0985
Autoimmune disease, multisystem, infantile-onset, 1 (ADMIO1) [MIM:615952] (STAT3, STAT2) 2.836 0.0267 0.174
Autoimmune lymphoproliferative syndrome All phenotypes (FAS, ANK3) 2.293 0.00286 0.02
Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] (FAS, ANK3) 2.293 0.00286 0.0143
Autoimmune polyendocrine syndrome Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] (AIRE, AIRE) 2.106 0.0184 0.0368
Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM:614878] (ERBB2, PLCG2) 5.847 0.0174 0.0347
Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM:614878] (PLCG2, PIK3R1) 4.421 0.0467 0.0467
Basal cell nevus syndrome Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] (NRAS, RASA1) 2.214 0.01 0.02
Basal ganglia calcification All phenotypes (RAF1, PDGFRB) 4.548 0.0428 0.214
Basal ganglia calcification, idiopathic, 4 (IBGC4) [MIM:615007] (RAF1, PDGFRB) 4.548 0.0428 0.0428
Bladder cancer Bladder cancer (BLC) [MIM:109800] (FGF1, FGFR3) 2.668 0.0349 0.0697
Bleeding disorder All phenotypes (ITGA2B, FLNA) 7.104 5.28e-5 0.000211
All phenotypes (ITGB3, TLN1) 5.114 0.0289 0.0385
All phenotypes (ITGB3, ITGA2B) 1.885 0.0198 0.0385
Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] (ITGA2B, FLNA) 7.104 5.28e-5 0.000159
Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] (ITGB3, TLN1) 5.114 0.0289 0.0289
Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] (ITGB3, ITGA2B) 1.885 0.0198 0.0289
Bone mineral density variability High bone mass trait (HBM) [MIM:601884] (LRP5, SOST) 5.256 0.026 0.026
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) 2.014 0.00839 0.042
All phenotypes (BMP7, NOG) 1.892 0.0115 0.042
All phenotypes (GDF5, NOG) 1.518 0.00305 0.0336
Brachydactyly A1 (BDA1) [MIM:112500] (IHH, CDON) 2.935 0.0235 0.0257
Brachydactyly A1 (BDA1) [MIM:112500] (IHH, BOC) 2.865 0.0257 0.0257
Brachydactyly B2 (BDB2) [MIM:611377] (BMP2, NOG) 2.014 0.00839 0.0153
Brachydactyly B2 (BDB2) [MIM:611377] (GDF5, NOG) 1.972 0.00934 0.0153
Brachydactyly B2 (BDB2) [MIM:611377] (BMP7, NOG) 1.892 0.0115 0.0153
Breast cancer All phenotypes (BRCA2, PALB2) 5.246 2.02e-6 2.43e-5
All phenotypes (BRCA1, ATRIP) 3.138 0.00384 0.0153
All phenotypes (BRCA1, BRAT1) 3.138 0.00384 0.0153
All phenotypes (PIK3CA, PIK3R3) 2.502 0.0383 0.0763
All phenotypes (BRCA1, ACACA) 2.264 0.0204 0.0613
All phenotypes (BRCA1, FAM175A) 1.865 0.0422 0.0763
All phenotypes (BRCA1, BRIP1) 1.816 0.046 0.0763
Breast cancer (BC) [MIM:114480] (BRCA2, PALB2) 5.246 2.02e-6 2.22e-5
Breast cancer (BC) [MIM:114480] (BRCA1, ATRIP) 3.138 0.00384 0.0141
Breast cancer (BC) [MIM:114480] (BRCA1, BRAT1) 3.138 0.00384 0.0141
Breast cancer (BC) [MIM:114480] (PIK3CA, PIK3R3) 2.502 0.0383 0.0699
Breast cancer (BC) [MIM:114480] (BRCA1, ACACA) 2.264 0.0204 0.0562
Breast cancer (BC) [MIM:114480] (BRCA1, FAM175A) 1.865 0.0422 0.0699
Breast cancer (BC) [MIM:114480] (BRCA1, BRIP1) 1.816 0.046 0.0699
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) 2.502 0.0383 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) 2.402 0.0122 0.147
Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] (DIRAS3, KRAS) 2.402 0.0122 0.049
Cardiomyopathy All phenotypes (CRYAB, HSPB2) 2.281 0.0423 0.467
All phenotypes (BAG3, HSPA8) 2.084 0.0192 0.394
All phenotypes (MYL3, MYH7) 1.446 2.04e-9 8.36e-8
Cardiomyopathy, dilated 1EE (CMD1EE) [MIM:613252] (MYH6, MYL7) 4.859 0.0344 0.0344
Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] (BAG3, HSPA8) 2.084 0.0192 0.0192
Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184] (CRYAB, HSPB2) 2.281 0.0423 0.163
Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424] (CAPN1, ACTC1) 4.946 0.0322 0.0322
Cardiomyopathy, dilated 1Y (CMD1Y) [MIM:611878] (TPM1, TPM1) 2.317 0.0403 0.0403
Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600] (MYL3, MYH7) 2.217 4.14e-15 2.07e-14
Cataract All phenotypes (HSPB6, CRYAA) 0.951 0.0371 0.378
Cataract 9, multiple types (CTRCT9) [MIM:604219] (HSPB6, CRYAA) 0.951 0.0371 0.148
Cerebral amyloid angiopathy Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, PITRM1) 5.570 1.56e-5 9.33e-5
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, LCN2) 5.039 4.66e-5 9.33e-5
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (IGHG1, APP) 5.039 4.66e-5 9.33e-5
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, IDE) 4.492 0.000144 0.000217
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (IGKC, APP) 4.347 0.0035 0.0042
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 0.0708
All phenotypes (ERCC2, GTF2H2C) 4.388 0.0472 0.0708
Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756] (ERCC2, GTF2H2) 4.569 0.0417 0.0472
Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756] (ERCC2, GTF2H2C) 4.388 0.0472 0.0472
Charcot-Marie-Tooth disease All phenotypes (HSPB1, HSPB8) 2.011 0.0222 0.248
Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595] (HSPB1, HSPB8) 2.011 0.0222 0.155
Cherubism Cherubism (CRBM) [MIM:118400] (SH3BP2, TNKS2) 4.285 9.33e-10 9.33e-10
Coagulation factor deficiency All phenotypes (F2, F5) 3.209 0.0184 0.141
All phenotypes (F2, F2R) 2.134 0.00224 0.0516
All phenotypes (F2, SERPINC1) 2.116 0.00843 0.0969
All phenotypes (F2, SERPIND1) 1.946 0.0355 0.171
All phenotypes (F2, GP1BA) 1.920 0.0372 0.171
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 0.065
All phenotypes (CTNNB1, FBXW11) 5.837 0.0175 0.065
All phenotypes (BRAF, MAP2K1) 2.609 0.00816 0.065
All phenotypes (BRAF, MAP2K2) 2.382 0.0127 0.065
All phenotypes (PIK3CA, PIK3R3) 2.087 0.00907 0.065
All phenotypes (PIK3R1, PIK3CA) 1.873 0.0154 0.065
All phenotypes (MLH1, PMS2) 1.257 0.00605 0.065
Colorectal cancer (CRC) [MIM:114500] (HLA-A, CTNNB1) 5.975 0.0159 0.0291
Colorectal cancer (CRC) [MIM:114500] (CTNNB1, FBXW11) 5.837 0.0175 0.0291
Colorectal cancer (CRC) [MIM:114500] (BRAF, MAP2K1) 2.609 0.00816 0.0291
Colorectal cancer (CRC) [MIM:114500] (BRAF, MAP2K2) 2.382 0.0127 0.0291
Colorectal cancer (CRC) [MIM:114500] (PIK3CA, PIK3R3) 2.087 0.00907 0.0291
Colorectal cancer (CRC) [MIM:114500] (PIK3R1, PIK3CA) 1.873 0.0154 0.0291
Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310] (MLH1, PMS2) 1.252 0.00887 0.0266
Cone-rod dystrophy All phenotypes (CRX, RAX2) 2.322 0.04 0.16
All phenotypes (CRX, RHOXF2) 2.322 0.04 0.16
Cone-rod dystrophy 2 (CORD2) [MIM:120970] (CRX, RAX2) 2.322 0.04 0.06
Cone-rod dystrophy 2 (CORD2) [MIM:120970] (CRX, RHOXF2) 2.322 0.04 0.06
Congenital heart defects All phenotypes (HERC2, CDC42) 4.992 0.0314 0.231
Takenouchi-Kosaki syndrome (TKS) [MIM:616737] (HERC2, CDC42) 4.992 0.0314 0.232
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 0.00106
All phenotypes (UGT1A1, UGT1A7) 1.752 0.000265 0.00106
All phenotypes (UGT1A1, UGT1A1) 1.713 0.000336 0.00106
All phenotypes (UGT1A1, UGT1A8) 1.713 0.000336 0.00106
All phenotypes (UGT1A1, UGT1A3) 1.674 0.000423 0.00106
All phenotypes (UGT1A6, UGT1A1) 1.674 0.000423 0.00106
All phenotypes (UGT1A9, UGT1A1) 1.655 0.000911 0.00195
All phenotypes (UGT1A1, UGT1A4) 1.229 0.00348 0.00653
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A10) 2.144 0.000221 0.00332
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A7) 2.030 0.001 0.00346
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A1) 1.990 0.00118 0.00346
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A8) 1.990 0.00118 0.00346
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A3) 1.952 0.00138 0.00346
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A6, UGT1A1) 1.952 0.00138 0.00346
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A9, UGT1A1) 1.848 0.00477 0.00895
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A4) 1.577 0.00319 0.00683
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A7) 1.899 0.00183 0.00286
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A1) 1.859 0.00215 0.00286
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A8) 1.859 0.00215 0.00286
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A10) 1.821 0.0025 0.00286
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A3) 1.821 0.0025 0.00286
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A4) 1.821 0.0025 0.00286
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A6, UGT1A1) 1.821 0.0025 0.00286
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A9, UGT1A1) 1.717 0.00774 0.00774
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) 0.810 0.0459 0.183
Deafness All phenotypes (AIFM1, AIFM1) 3.804 0.00732 0.11
Deafness, X-linked, 5 (DFNX5) [MIM:300614] (AIFM1, AIFM1) 3.804 0.00732 0.00732
Diabetes mellitus All phenotypes (ABCC9, KCNJ11) 1.285 0.00818 0.0491
All phenotypes (INS, INSR) 1.263 0.0023 0.0207
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] (INSR, SH2B1) 5.280 0.0255 0.0638
Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] (SH2B2, INSR) 5.280 0.0255 0.0638
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (INS, INSR) 1.356 0.00113 0.0101
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (ABCC9, KCNJ11) 1.186 0.0275 0.0619
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 0.229
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) 3.637 5.52e-13 1.1e-12
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] (TP53BP2, TP63) 3.453 2.8e-12 2.8e-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) 4.680 1.32e-19 3.97e-19
All phenotypes (SPTA1, SPTBN1) 4.242 6.22e-15 9.33e-15
Elliptocytosis 2 (EL2) [MIM:130600] (SPTA1, SPTB) 5.117 2.74e-16 5.49e-16
Elliptocytosis 2 (EL2) [MIM:130600] (SPTA1, SPTBN1) 4.242 6.22e-15 6.22e-15
Elliptocytosis 3 (EL3) [MIM:182870] (SPTA1, SPTB) 4.203 2.43e-5 4.85e-5
Elliptocytosis 3 (EL3) [MIM:182870] (SPTB, SPTAN1) 3.301 0.000281 0.000281
Epidermolysis bullosa All phenotypes (KRT14, BFSP2) 0.722 0.0382 0.113
All phenotypes (KRT14, KRT72) 0.694 0.0438 0.113
All phenotypes (KRT14, KRT80) 0.694 0.0438 0.113
All phenotypes (KRT86, KRT14) 0.694 0.0438 0.113
All phenotypes (KRT14, KRT1) 0.685 0.0259 0.113
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT1) 0.948 0.0194 0.163
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT5) 0.857 0.017 0.163
Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT1, KRT10) 0.987 0.00419 0.0639
Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT1, KRT28) 0.868 0.0495 0.0639
Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT1, KRT39) 0.868 0.0495 0.0639
Epilepsy All phenotypes (SNAP23, STX1B) 2.859 0.019 0.151
All phenotypes (CHRNB2, CHRNA4) 1.298 0.0274 0.151
Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] (SNAP23, STX1B) 2.859 0.019 0.057
Epileptic encephalopathy All phenotypes (CAD, CAD) 4.435 0.0462 0.191
All phenotypes (GNAO1, PDE6G) 2.556 0.0421 0.191
All phenotypes (GNAO1, PDE6H) 2.556 0.0421 0.191
All phenotypes (KCNH1, KCNB1) 2.551 0.0416 0.191
All phenotypes (KCNB1, KCNG2) 2.049 0.00768 0.184
Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473] (GNAO1, PDE6G) 2.556 0.0421 0.0421
Epileptic encephalopathy, early infantile, 17 (EIEE17) [MIM:615473] (GNAO1, PDE6H) 2.556 0.0421 0.0421
Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056] (KCNH1, KCNB1) 2.551 0.0416 0.113
Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056] (KCNB1, KCNG2) 2.049 0.00768 0.0614
Epileptic encephalopathy, early infantile, 50 (EIEE50) [MIM:616457] (CAD, CAD) 4.435 0.0462 0.0462
Erythrocytosis All phenotypes (EPAS1, EGLN3) 4.265 0.000332 0.000995
All phenotypes (EGLN2, EPAS1) 3.818 0.00787 0.0157
All phenotypes (EPAS1, EGLN1) 3.614 0.000171 0.000995
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EPAS1, EGLN3) 4.265 0.000332 0.000812
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EPAS1, EGLN1) 4.024 0.000541 0.000812
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EGLN2, EPAS1) 3.818 0.00787 0.00787
Fabry disease Fabry disease (FD) [MIM:301500] (GLA, GLA) 0.700 0.00953 0.00953
Faciocutaneoskeletal syndrome Costello syndrome (CSTLO) [MIM:218040] (HRAS, RASA1) 1.833 9.53e-5 0.000607
Costello syndrome (CSTLO) [MIM:218040] (HRAS, NF1) 1.717 0.000185 0.000607
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RASGRF1) 1.681 0.000227 0.000607
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RIN1) 1.553 0.00377 0.00524
Costello syndrome (CSTLO) [MIM:218040] (HRAS, SOS2) 1.448 0.000842 0.00168
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RGL1) 1.309 0.00458 0.00524
Costello syndrome (CSTLO) [MIM:218040] (RGL2, HRAS) 1.309 0.00458 0.00524
Costello syndrome (CSTLO) [MIM:218040] (HRAS, SOS1) 0.745 0.0184 0.0184
Familial advanced sleep-phase syndrome Advanced sleep phase syndrome, familial, 2 (FASPS2) [MIM:615224] (CSNK1D, CCNA1) 3.342 0.00973 0.00973
Fanconi anemia All phenotypes (BRCA2, SEM1) 2.968 0.0163 0.049
Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] (BRCA2, SEM1) 2.968 0.0163 0.0163
Fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] (FKBP1B, ACVR1) 2.621 0.0101 0.0302
Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] (FKBP1A, ACVR1) 2.135 0.0251 0.0377
Fibrosis of extraocular muscles 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
Glutaric aciduria All phenotypes (ETFA, ETFB) 1.299 0.0413 0.124
Growth hormone insensitivity All phenotypes (JAK1, STAT5B) 4.831 0.0348 0.104
Growth hormone insensitivity with immunodeficiency (GHII) [MIM:245590] (JAK1, STAT5B) 4.831 0.0348 0.0697
Growth retardation Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] (PRKACB, CSNK2A1) 2.581 0.0374 0.0661
Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] (CSNK2B, CSNK2A1) 2.535 0.0397 0.0661
Okur-Chung neurodevelopmental syndrome (OCNDS) [MIM:617062] (CSNK2A1, CDK11A) 2.365 0.011 0.0549
Hemolytic uremic syndrome All phenotypes (C3, CR2) 3.452 0.000314 0.00141
All phenotypes (C3, CD46) 2.435 0.0165 0.0494
All phenotypes (C3, CFH) 1.588 0.000106 0.000952
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3, CR2) 3.452 0.000314 0.000786
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3, CD46) 3.001 0.0246 0.041
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3, CFH) 2.551 0.000168 0.000786
Hemophilia All phenotypes (F9, SERPINC1) 0.641 0.0302 0.121
Hemophilia B (HEMB) [MIM:306900] (F9, SERPINC1) 0.641 0.0302 0.0604
Hepatocellular carcinoma Hepatocellular carcinoma (HCC) [MIM:114550] (MET, GRB7) 4.523 0.00247 0.0318
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, GRB14) 4.474 0.00265 0.0318
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, KDR) 3.315 0.0129 0.103
High density lipoprotein deficiency All phenotypes (ABCA1, ABCA12) 3.130 0.0219 0.0219
High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] (ABCA1, ABCA12) 3.403 0.0153 0.0153
Hirschsprung disease All phenotypes (RET, GRB10) 1.873 0.00276 0.0221
All phenotypes (RET, RET) 0.986 0.0191 0.0762
Hirschsprung disease 1 (HSCR1) [MIM:142623] (RET, GRB10) 1.873 0.00276 0.0193
Hirschsprung disease 1 (HSCR1) [MIM:142623] (RET, RET) 0.986 0.0191 0.0667
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
Hyperimmunoglobulin E recurrent infection syndrome Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) [MIM:147060] (STAT3, STAT2) 2.350 0.00197 0.0276
Hyperinsulinemic hypoglycemia All phenotypes (INSR, IRS1) 5.680 0.0195 0.053
All phenotypes (INSR, GRB7) 5.370 0.0242 0.053
All phenotypes (INSR, GRB10) 5.237 0.0265 0.053
All phenotypes (INSR, GRB14) 5.237 0.0265 0.053
Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] (INSR, IRS1) 5.680 0.0195 0.0265
Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] (INSR, GRB7) 5.370 0.0242 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
Hypocalcemia Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] (CASR, CASR) 1.057 0.00374 0.00374
Hypocalciuric hypercalcemia Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] (CASR, CASR) 0.530 0.0304 0.0304
Hypogonadotropic hypogonadism All phenotypes (FGF19, FGFR1) 1.187 0.0474 0.275
Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] (FGF19, FGFR1) 1.187 0.0474 0.245
Hypomyelination with brainstem and spinal cord involvement and leg spasticity Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] (DARS, DARS) 1.637 0.00879 0.00879
Immunodeficiency All phenotypes (UBC, IKBKG) 2.567 0.0351 0.492
Immunodeficiency 31A (IMD31A) [MIM:614892] (STAT1, STAT1) 1.734 0.044 0.176
Immunodeficiency 33 (IMD33) [MIM:300636] (UBC, IKBKG) 3.152 0.0127 0.038
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) 2.152 0.0219 0.109
Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) [MIM:123150] (FGF19, FGFR1) 4.435 0.0462 0.22
Jackson-Weiss syndrome (JWS) [MIM:123150] (FGF1, FGFR1) 4.342 0.0493 0.22
Juvenile polyposis All phenotypes (BMPR1A, BMPR1A) 2.944 0.0259 0.171
Juvenile polyposis syndrome (JPS) [MIM:174900] (BMPR1A, BMPR1A) 2.944 0.0259 0.0965
Keratinocytic non-epidermolytic nevus Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, RIN1) 2.339 0.00772 0.0451
Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, RASA1) 2.214 0.01 0.0451
Keratosis Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3CA, PIK3R3) 2.672 0.00595 0.0228
Keratosis, seborrheic (KERSEB) [MIM:182000] (FGFR3, FGFR3) 2.504 0.045 0.0749
Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3R1, PIK3CA) 2.458 0.00914 0.0228
Leopard syndrome All phenotypes (ERBB2, PTPN11) 2.803 0.00171 0.0154
All phenotypes (PTPN11, PTPN11) 1.234 0.0418 0.146
LEOPARD syndrome 1 (LPRD1) [MIM:151100] (ERBB2, PTPN11) 2.803 0.00171 0.00342
LEOPARD syndrome 1 (LPRD1) [MIM:151100] (PTPN11, PTPN11) 1.234 0.0418 0.0418
Leukemia Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (MET, PTPN11) 4.298 1.86e-7 6.51e-7
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (GRB2, PTPN11) 3.035 4.48e-8 3.14e-7
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (ERBB2, PTPN11) 2.251 0.0219 0.0384
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (NRAS, RASA1) 2.214 0.0465 0.0651
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (PTPN11, PTPN11) 1.944 3.19e-5 7.44e-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 0.00261
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, PPP1R13L) 1.529 0.000522 0.00261
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, BCL2L1) 0.999 0.0162 0.0413
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, BCL2) 0.948 0.0207 0.0413
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53BP1) 0.859 0.0206 0.0413
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53) 0.388 0.0248 0.0413
Limb-girdle muscular dystrophy All phenotypes (LMNA, LMNB1) 1.541 0.034 0.102
Loeys-Dietz syndrome All phenotypes (SMAD3, SMAD4) 1.941 0.0298 0.179
Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] (SMAD3, SMAD4) 1.941 0.0298 0.0595
Lung cancer Lung cancer (LNCR) [MIM:211980] (BRAF, MAPK3) 3.212 0.0116 0.0466
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] (GNB1, GNAS) 2.920 0.00231 0.00461
McCune-Albright syndrome (MAS) [MIM:174800] (GNAS, GNAS) 1.760 0.0258 0.0258
Medullary thyroid carcinoma Medullary thyroid carcinoma (MTC) [MIM:155240] (EGFR, RET) 2.872 0.00143 0.0086
Medullary thyroid carcinoma (MTC) [MIM:155240] (RET, LRRK1) 2.598 0.0412 0.1
Medulloblastoma Medulloblastoma (MDB) [MIM:155255] (HLA-A, CTNNB1) 5.975 0.000253 0.000612
Medulloblastoma (MDB) [MIM:155255] (CTNNB1, FBXW11) 5.837 0.000306 0.000612
Melanoma All phenotypes (CDK4, CDKN2C) 3.005 0.0195 0.131
All phenotypes (CDK4, CDKN2D) 2.604 0.0334 0.131
All phenotypes (CDK4, CDKN2B) 2.401 0.0438 0.131
All phenotypes (CDK4, CDKN2A) 0.813 0.0235 0.131
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2C) 3.005 0.0195 0.146
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2D) 2.604 0.0334 0.146
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2B) 2.401 0.0438 0.146
Melanosis, neurocutaneous Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, RIN1) 2.339 0.039 0.0465
Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, RASA1) 2.214 0.0465 0.0465
Mental retardation All phenotypes (TRIO, RAC1) 4.751 0.00138 0.0107
All phenotypes (PPP2R1A, PPP2R5C) 3.392 0.0128 0.0565
All phenotypes (PPP2R1A, PPP2R5A) 3.084 0.00258 0.016
All phenotypes (PPP2R1A, CDC6) 2.676 0.033 0.0921
All phenotypes (PPP2R1A, PPP2R3B) 2.676 0.033 0.0921
All phenotypes (PPP2R1A, PPP2R5D) 2.585 0.0372 0.0921
All phenotypes (PPP2R1A, PPP2R2A) 2.556 0.0386 0.0921
All phenotypes (PPP2R1A, PPP2R5B) 2.527 0.0401 0.0921
All phenotypes (PPP2R1A, PPP2R2B) 2.499 0.0416 0.0921
All phenotypes (PPP2R1A, PPP2R5E) 2.499 0.0416 0.0921
All phenotypes (GNAI2, GNB1) 2.477 2.45e-7 7.6e-6
All phenotypes (GNB1, GNAS) 2.196 1.81e-6 2.8e-5
All phenotypes (GRK2, GNB1) 1.950 0.000383 0.00396
All phenotypes (SMS, SMS) 1.902 0.0087 0.045
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5C) 3.392 0.0128 0.0416
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5A) 3.084 0.00258 0.0232
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, CDC6) 2.676 0.033 0.0416
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R3B) 2.676 0.033 0.0416
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5D) 2.585 0.0372 0.0416
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R2A) 2.556 0.0386 0.0416
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5B) 2.527 0.0401 0.0416
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R2B) 2.499 0.0416 0.0416
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5E) 2.499 0.0416 0.0416
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNAI2, GNB1) 2.477 2.45e-7 1.72e-6
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GNB1, GNAS) 2.196 1.81e-6 6.32e-6
Mental retardation, autosomal dominant 42 (MRD42) [MIM:616973] (GRK2, GNB1) 1.950 0.000383 0.000894
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) 2.432 0.00962 0.0385
Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524] (RARB, RXRG) 2.432 0.00962 0.0192
Monilethrix Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT37) 0.893 0.0244 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT32) 0.868 0.0271 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT33B) 0.868 0.0271 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT40) 0.868 0.0271 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT19) 0.842 0.0301 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT31) 0.842 0.0301 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT34) 0.842 0.0301 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT35) 0.842 0.0301 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT38) 0.842 0.0301 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT25) 0.818 0.0333 0.142
Monilethrix (MNLIX) [MIM:158000] (KRT86, KRT27) 0.818 0.0333 0.142
Multiple neoplasia All phenotypes (RET, MAPK3) 3.796 0.000755 0.00679
All phenotypes (RET, LRRK1) 3.598 0.0102 0.0306
All phenotypes (RET, MAPK1) 3.344 0.0143 0.0322
All phenotypes (MEN1, JUND) 1.184 0.00448 0.0201
All phenotypes (MEN1, KMT2A) 0.523 0.0455 0.082
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) 4.920 0.00109 0.00249
Multiple neoplasia 2A (MEN2A) [MIM:171400] (RET, MAPK1) 4.666 0.00155 0.00249
Multiple neoplasia 2A (MEN2A) [MIM:171400] (RET, MAPK3) 4.533 0.00187 0.00249
Multiple self-healing squamous epithelioma Multiple self-healing squamous epithelioma (MSSE) [MIM:132800] (TGFBR1, TGFBR2) 3.184 0.0169 0.0337
Multiple synostoses syndrome All phenotypes (GDF5, NOG) 1.113 0.0346 0.242
Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] (GDF5, NOG) 1.113 0.0346 0.173
Myopathy All phenotypes (CRYAB, HSPB8) 3.281 0.0106 0.0723
All phenotypes (HSPB6, CRYAB) 2.751 0.0221 0.129
All phenotypes (CRYAB, HSPB2) 2.281 0.0423 0.145
All phenotypes (HRAS, RIN1) 1.915 0.0268 0.137
All phenotypes (HRAS, RASA1) 1.833 0.0314 0.143
All phenotypes (DES, SYNC) 1.803 0.000113 0.00232
All phenotypes (HRAS, NF1) 1.717 0.0393 0.145
All phenotypes (HRAS, RASGRF1) 1.681 0.0422 0.145
All phenotypes (DES, KRT20) 1.672 8.76e-5 0.00232
All phenotypes (DES, KRT33B) 1.481 0.000766 0.00785
All phenotypes (KRT75, DES) 1.481 0.000766 0.00785
All phenotypes (KRT37, DES) 1.404 0.00119 0.00976
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RIN1) 1.915 0.0268 0.132
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RASA1) 1.833 0.0314 0.132
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, NF1) 1.717 0.0393 0.132
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RASGRF1) 1.681 0.0422 0.132
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, SYNC) 1.803 0.000113 0.00034
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT20) 1.672 8.76e-5 0.00034
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (DES, KRT33B) 1.481 0.000766 0.00115
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT75, DES) 1.481 0.000766 0.00115
Myopathy, myofibrillar, 1 (MFM1) [MIM:601419] (KRT37, DES) 1.404 0.00119 0.00143
Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] (CRYAB, HSPB8) 3.281 0.0106 0.0635
Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] (HSPB6, CRYAB) 2.751 0.0221 0.0662
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) 2.919 0.0175 0.0175
Neuroblastoma Neuroblastoma 3 (NBLST3) [MIM:613014] (ALK, ALK) 0.966 0.031 0.031
Neurofibromatosis All phenotypes (HRAS, NF1) 2.871 7.73e-7 2.32e-6
Neurofibromatosis 1 (NF1) [MIM:162200] (HRAS, NF1) 2.871 7.73e-7 1.55e-6
Neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] (HRAS, NF1) 3.788 2.74e-5 2.74e-5
Neuronopathy All phenotypes (CRYAB, HSPB8) 2.439 0.00209 0.0103
All phenotypes (HSPB3, HSPB8) 2.361 0.00257 0.0103
All phenotypes (HSPB2, HSPB8) 2.024 0.00631 0.0202
All phenotypes (HSPB6, HSPB8) 1.854 0.00987 0.0263
All phenotypes (HSPB7, HSPB8) 1.801 0.00194 0.0103
All phenotypes (HSPB1, HSPB8) 1.549 0.00204 0.0103
All phenotypes (HSPB8, HSPB8) 1.048 0.0265 0.0605
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (CRYAB, HSPB8) 2.439 0.00209 0.00601
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB3, HSPB8) 2.361 0.00257 0.00601
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB2, HSPB8) 2.024 0.00631 0.0103
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB1, HSPB8) 1.965 0.00737 0.0103
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB6, HSPB8) 1.854 0.00987 0.0115
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB7, HSPB8) 1.801 0.00194 0.00601
Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] (HSPB8, HSPB8) 1.048 0.0265 0.0265
Non-Hodgkin lymphoma Familial non-Hodgkin lymphoma (NHL) [MIM:605027] (BRAF, MAP2K2) 2.534 0.0367 0.0734
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) 3.939 1.1e-7 3.08e-6
All phenotypes (RAF1, YWHAZ) 3.453 1.07e-6 5.24e-6
All phenotypes (RAF1, YWHAH) 3.180 5.3e-7 4.95e-6
All phenotypes (RAF1, YWHAQ) 3.180 5.3e-7 4.95e-6
All phenotypes (RAF1, YWHAB) 3.084 8.83e-7 5.24e-6
All phenotypes (RAF1, YWHAG) 3.038 1.12e-6 5.24e-6
All phenotypes (AFDN, RIT1) 2.918 0.00442 0.0124
All phenotypes (RAF1, YWHAE) 2.909 2.22e-6 8.87e-6
All phenotypes (DIRAS3, KRAS) 2.461 0.000784 0.00274
All phenotypes (KRAS, RAF1) 1.946 0.0355 0.0764
All phenotypes (KRAS, RALGDS) 1.794 0.0466 0.0932
All phenotypes (GRB2, PTPN11) 1.536 0.000909 0.00283
All phenotypes (ERBB2, PTPN11) 1.462 0.0201 0.0472
All phenotypes (PTPN11, PTPN11) 0.793 0.0202 0.0472
Noonan syndrome 1 (NS1) [MIM:163950] (GRB2, PTPN11) 1.536 0.000909 0.00545
Noonan syndrome 1 (NS1) [MIM:163950] (ERBB2, PTPN11) 1.462 0.0201 0.0404
Noonan syndrome 1 (NS1) [MIM:163950] (PTPN11, PTPN11) 0.793 0.0202 0.0404
Noonan syndrome 3 (NS3) [MIM:609942] (DIRAS3, KRAS) 2.461 0.000784 0.00314
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, RAF1) 1.946 0.0355 0.0621
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, RALGDS) 1.794 0.0466 0.0621
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, SFN) 3.939 1.1e-7 7.69e-7
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAZ) 3.453 1.07e-6 1.31e-6
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAH) 3.180 5.3e-7 1.24e-6
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAQ) 3.180 5.3e-7 1.24e-6
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAB) 3.084 8.83e-7 1.31e-6
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAG) 3.038 1.12e-6 1.31e-6
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAE) 2.909 2.22e-6 2.22e-6
Noonan syndrome 8 (NS8) [MIM:615355] (AFDN, RIT1) 2.918 0.00442 0.00885
Obesity Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886] (NTRK2, SH2B1) 5.517 0.0218 0.0437
Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886] (EGFR, NTRK2) 4.324 0.0499 0.0499
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) 3.966 0.000262 0.000458
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] (KDM1A, SNAI1) 4.438 9.82e-5 0.000223
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] (KDM1A, INSM1) 4.348 0.000118 0.000223
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] (KDM1A, HIST3H3) 4.183 0.000167 0.000223
Cleft palate, psychomotor retardation, and distinctive facial features (CPRF) [MIM:616728] (KDM1A, HIST1H3A) 3.966 0.000262 0.000262
Osteogenesis imperfecta All phenotypes (COL3A1, SPARC) 3.777 0.00532 0.0266
All phenotypes (COL1A1, FN1) 1.881 0.0454 0.111
All phenotypes (COL1A1, COL9A3) 1.670 0.00378 0.0266
All phenotypes (COL1A1, COL9A2) 1.370 0.0214 0.0714
Osteogenesis imperfecta 17 (OI17) [MIM:616507] (COL3A1, SPARC) 3.777 0.00532 0.00532
Osteogenesis imperfecta 1 (OI1) [MIM:166200] (COL1A1, FN1) 3.729 0.000865 0.00519
Osteogenesis imperfecta 2 (OI2) [MIM:166210] (COL1A1, COL9A3) 1.896 0.00664 0.0398
Osteogenesis imperfecta 2 (OI2) [MIM:166210] (COL1A1, COL9A2) 1.496 0.0431 0.129
Osteogenesis imperfecta 3 (OI3) [MIM:259420] (COL1A1, COL9A1) 2.475 0.0397 0.073
Osteogenesis imperfecta 3 (OI3) [MIM:259420] (COL1A1, COL9A3) 2.448 0.0411 0.073
Osteogenesis imperfecta 3 (OI3) [MIM:259420] (COL1A1, COL9A2) 2.370 0.0456 0.073
Osteogenesis imperfecta 3 (OI3) [MIM:259420] (COL1A1, COL1A2) 1.669 0.0432 0.073
Osteogenesis imperfecta 3 (OI3) [MIM:259420] (COL1A1, COL1A1) 1.648 0.0325 0.073
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 (KRT34, KRT6A) 0.846 0.0162 0.0973
All phenotypes (KRT6A, KRT28) 0.846 0.0162 0.0973
All phenotypes (KRT38, KRT6A) 0.820 0.0185 0.0973
All phenotypes (KRT6A, KRT19) 0.820 0.0185 0.0973
All phenotypes (KRT6A, KRT26) 0.795 0.0211 0.0973
All phenotypes (KRT6A, KRT35) 0.795 0.0211 0.0973
All phenotypes (KRT6A, KRT16) 0.771 0.0206 0.0973
All phenotypes (KRT36, KRT6A) 0.770 0.024 0.0973
All phenotypes (KRT6A, KRT13) 0.770 0.024 0.0973
All phenotypes (KRT6A, KRT18) 0.770 0.024 0.0973
All phenotypes (KRT6A, KRT27) 0.770 0.024 0.0973
All phenotypes (KRT6A, KRT40) 0.770 0.024 0.0973
All phenotypes (KRT6A, KRT25) 0.746 0.0272 0.0973
All phenotypes (KRT6A, KRT31) 0.746 0.0272 0.0973
All phenotypes (KRT6A, KRT17) 0.670 0.0358 0.119
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT34, KRT6A) 0.846 0.0162 0.0335
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT28) 0.846 0.0162 0.0335
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT38, KRT6A) 0.820 0.0185 0.0335
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT19) 0.820 0.0185 0.0335
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT26) 0.795 0.0211 0.0335
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT35) 0.795 0.0211 0.0335
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT36, KRT6A) 0.770 0.024 0.0335
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT13) 0.770 0.024 0.0335
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT18) 0.770 0.024 0.0335
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT27) 0.770 0.024 0.0335
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT40) 0.770 0.024 0.0335
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT17) 0.755 0.0467 0.0534
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT25) 0.746 0.0272 0.0335
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A, KRT31) 0.746 0.0272 0.0335
Palmoplantar carcinoma Palmoplantar carcinoma, multiple self-healing (MSPC) [MIM:615225] (PYDC2, NLRP1) 4.814 0.0355 0.0355
Parkinson disease All phenotypes (LRRK2, ANKS4B) 3.125 0.0198 0.435
All phenotypes (LRRK1, LRRK2) 1.798 0.0424 0.466
Parkinson disease 8 (PARK8) [MIM:607060] (LRRK2, ANKS4B) 3.125 0.0198 0.217
Parkinson disease 8 (PARK8) [MIM:607060] (LRRK1, LRRK2) 1.798 0.0424 0.233
Periventricular heterotopia Periventricular nodular heterotopia 7 (PVNH7) [MIM:617201] (UBA52, NEDD4L) 2.603 0.0363 0.109
Peroxisome biogenesis disorder Peroxisome biogenesis disorder 4A (PBD4A) [MIM:614862] (PEX1, PEX6) 2.392 0.0363 0.0363
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] (FGF19, FGFR1) 4.435 0.0462 0.215
Pfeiffer syndrome (PS) [MIM:101600] (FGF1, FGFR1) 4.342 0.0493 0.215
Pheochromocytoma Pheochromocytoma (PCC) [MIM:171300] (RET, LRRK1) 4.920 0.033 0.137
Pheochromocytoma (PCC) [MIM:171300] (RET, MAPK1) 4.666 0.0394 0.137
Pheochromocytoma (PCC) [MIM:171300] (RET, MAPK3) 4.533 0.0432 0.137
Piebaldism Piebald trait (PBT) [MIM:172800] (LCK, KIT) 2.797 0.0319 0.132
Piebald trait (PBT) [MIM:172800] (KIT, KIT) 1.320 0.0329 0.132
Pilomatrixoma Pilomatrixoma (PTR) [MIM:132600] (HLA-A, CTNNB1) 5.975 2.57e-13 7.5e-13
Pilomatrixoma (PTR) [MIM:132600] (CTNNB1, FBXW11) 5.837 5.0e-13 7.5e-13
Pilomatrixoma (PTR) [MIM:132600] (CTNNB1, BTRC) 4.905 9.82e-5 9.82e-5
Pontocerebellar hypoplasia All phenotypes (EXOSC9, EXOSC3) 2.423 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) 2.860 2.53e-6 1.77e-5
All phenotypes (WNK3, KLHL3) 2.100 0.00232 0.00541
All phenotypes (KEAP1, KLHL3) 1.937 0.00407 0.00713
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) 2.285 0.00121 0.0058
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (WNK3, KLHL3) 2.100 0.00232 0.0058
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (KEAP1, KLHL3) 1.937 0.00407 0.00679
Pseudohypoparathyroidism Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] (GNAS, ADCY2) 2.423 0.049 0.147
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (ADORA2A, GNAS) 4.133 0.00325 0.00487
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (CALCR, GNAS) 4.133 0.00325 0.00487
Pyridoxine-5'-phosphate oxidase deficiency Pyridoxine-5'-phosphate oxidase deficiency (PNPOD) [MIM:610090] (PNPO, PNPO) 1.697 0.0293 0.0293
Pyropoikilocytosis Hereditary pyropoikilocytosis (HPP) [MIM:266140] (SPTA1, SPTB) 5.465 0.0226 0.0453
Hereditary pyropoikilocytosis (HPP) [MIM:266140] (SPTA1, SPTBN1) 4.465 0.0453 0.0453
Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome (RMS) [MIM:262190] (INSR, 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, SH2B1) 4.921 4.41e-7 1.03e-6
All phenotypes (MET, SH2B3) 4.921 4.41e-7 1.03e-6
All phenotypes (MET, SLA2) 4.921 4.41e-7 1.03e-6
All phenotypes (SH2B2, MET) 4.921 4.41e-7 1.03e-6
All phenotypes (MET, TXK) 2.826 1.04e-7 1.03e-6
All phenotypes (MET, TEC) 2.667 2.96e-7 1.03e-6
All phenotypes (MET, ITK) 2.211 0.00315 0.00551
All phenotypes (MET, BTK) 2.105 0.00154 0.00308
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SH2B1) 4.921 4.41e-7 9.56e-7
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SH2B3) 4.921 4.41e-7 9.56e-7
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SLA2) 4.921 4.41e-7 9.56e-7
Renal cell carcinoma papillary (RCCP) [MIM:605074] (SH2B2, MET) 4.921 4.41e-7 9.56e-7
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, TXK) 2.826 1.04e-7 9.56e-7
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, TEC) 2.667 2.96e-7 9.56e-7
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, ITK) 2.211 0.00315 0.00511
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, BTK) 2.105 0.00154 0.00286
Retinitis pigmentosa All phenotypes (SNRNP200, PRPF8) 2.865 0.000468 0.00702
Retinitis pigmentosa 13 (RP13) [MIM:600059] (SNRNP200, PRPF8) 4.219 3.34e-5 3.34e-5
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
Spermatogenic failure Spermatogenic failure 10 (SPGF10) [MIM:614822] (SEPT12, SEPT1) 2.317 0.0403 0.282
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) 3.522 0.00972 0.0187
Split-hand/foot malformation 4 (SHFM4) [MIM:605289] (TP53BP2, TP63) 3.337 0.0125 0.0187
Symphalangism All phenotypes (BMP2, NOG) 2.014 0.00108 0.00431
All phenotypes (BMP7, NOG) 1.892 0.00171 0.00456
All phenotypes (GDF5, NOG) 1.573 0.00101 0.00431
Symphalangism, proximal 1A (SYM1A) [MIM:185800] (BMP2, NOG) 2.014 0.00108 0.00228
Symphalangism, proximal 1A (SYM1A) [MIM:185800] (GDF5, NOG) 1.972 0.00126 0.00228
Symphalangism, proximal 1A (SYM1A) [MIM:185800] (BMP7, NOG) 1.892 0.00171 0.00228
Tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (BMP2, NOG) 2.599 0.0045 0.00579
Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (GDF5, NOG) 2.557 0.0049 0.00579
Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (BMP7, NOG) 2.477 0.00579 0.00579
Thanatophoric dysplasia All phenotypes (FGFR3, FGFR3) 2.504 0.045 0.101
Thanatophoric dysplasia 1 (TD1) [MIM:187600] (FGFR3, FGFR3) 2.727 0.0332 0.0752
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 0.0487
Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] (ERCC2, GTF2H2C) 2.481 0.0487 0.0487
Von Hippel-Lindau disease Von Hippel-Lindau disease (VHLD) [MIM:193300] (VHL, ELOC) 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
Weaver syndrome Weaver syndrome (WVS) [MIM:277590] (EZH2, WDR61) 3.923 0.00735 0.0294
Weaver syndrome (WVS) [MIM:277590] (EZH2, JARID2) 3.030 0.0238 0.0477

[Show all]

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