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Top 10 diseases (for # mutations)
Top 10 diseases Muts Prots Ints
Hemophilia 610 2 14
Mucopolysaccharidosis 534 11 5
Cardiomyopathy 477 44 580
Epileptic encephalopathy 446 25 80
Charcot-Marie-Tooth disease 383 38 263
Long QT syndrome 357 13 127
Retinitis pigmentosa 339 52 181
Deafness 294 56 297
Glycogen storage disease 293 17 54
Niemann-Pick disease 250 3 5
Top 10 proteins (for # mutations)
Top 10 proteins Uniprot AC Muts Diseases Ints
F8 P00451 472 1 9
FBN1 P35555 250 5 14
PAH P00439 206 2 3
MYH7 P12883 200 3 11
ATP7B P35670 194 1 5
GJB1 P08034 187 2 2
AR P10275 159 1 156
GLA P06280 157 1 3
SCN5A Q14524 148 9 12
GBA P04062 147 1 1
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
Activated PI3K-delta syndrome Activated PI3K-delta syndrome (APDS) [MIM:615513] PIK3CD
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
X-linked adrenal hypoplasia congenital (XL-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
Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] RNASEH2B
Aicardi-Goutieres syndrome 5 (AGS5) [MIM:612952] SAMHD1
Alzheimer disease Alzheimer disease 1 (AD1) [MIM:104300] APP
Amelogenesis imperfecta Amelogenesis imperfecta 1H (AI1H) [MIM:616221] ITGB6
Amyloidosis Amyloidosis 8 (AMYL8) [MIM:105200] APOA1
Amyotrophic lateral sclerosis Amyotrophic lateral sclerosis 12 (ALS12) [MIM:613435] OPTN
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) [MIM:613954] VCP
Amyotrophic lateral sclerosis 17 (ALS17) [MIM:614696] CHMP2B
Amyotrophic lateral sclerosis 18 (ALS18) [MIM:614808] PFN1
Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515] ERBB4
Amyotrophic lateral sclerosis 20 (ALS20) [MIM:615426] HNRNPA1
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] FUS
Amyotrophic lateral sclerosis 9 (ALS9) [MIM:611895] ANG
Aortic aneurysm Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] MYLK
Apert syndrome Apert syndrome (APRS) [MIM:101200] FGFR2
Asplenia Asplenia, isolated congenital (ICAS) [MIM:271400] RPSA
Auriculocondylar syndrome Auriculocondylar syndrome 1 (ARCND1) [MIM:602483] GNAI3
Autoimmune disease Autoimmune disease, multisystem, infantile-onset (ADMIO) [MIM:615952] STAT3
Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] FAS
Autoimmune lymphoproliferative syndrome 2A (ALPS2A) [MIM:603909] CASP10
Autoimmune lymphoproliferative syndrome 5 (ALPS5) [MIM:616100] CTLA4
Caspase-8 deficiency (CASP8D) [MIM:607271] CASP8
Autoimmune polyendocrine syndrome Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] AIRE
Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM:614878] PLCG2
Baraitser-Winter syndrome Baraitser-Winter syndrome 1 (BRWS1) [MIM:243310] ACTB
Baraitser-Winter syndrome 2 (BRWS2) [MIM:614583] ACTG1
Bare lymphocyte syndrome Bare lymphocyte syndrome 2 (BLS2) [MIM:209920] RFXANK
Basal cell nevus syndrome Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] NRAS
Bladder cancer Bladder cancer (BLC) [MIM:109800] FGFR3
Bleeding disorder Bleeding disorder, platelet-type 15 (BDPLT15) [MIM:615193] ACTN1
Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] ITGA2B, ITGB3
Brachydactyly Brachydactyly A1, C (BDA1C) [MIM:615072] GDF5
Brachydactyly C (BDC) [MIM:113100] GDF5
Brachydactyly E2 (BDE2) [MIM:613382] PTHLH
Breast cancer Breast cancer (BC) [MIM:114480] 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
Candidiasis Candidiasis, familial, 2 (CANDF2) [MIM:212050] CARD9
Cardiofaciocutaneous syndrome Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150] BRAF
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 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
Carney complex Carney complex 1 (CNC1) [MIM:160980] PRKAR1A
Cataract Cataract 17, multiple types (CTRCT17) [MIM:611544] CRYBB1
Cataract 30 (CTRCT30) [MIM:116300] VIM
Central hypoventilation syndrome Congenital central hypoventilation syndrome (CCHS) [MIM:209880] RET
Cerebellar ataxia and hypogonadotropic hypogonadism Hypogonadotropic hypogonadism 24 without anosmia (HH24) [MIM:229070] FSHB
Cerebral amyloid angiopathy Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] APP
Cerebral arteriopathy Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy (CARASIL) [MIM:600142] HTRA1
Cerebral cavernous malformations Cerebral cavernous malformations 2 (CCM2) [MIM:603284] CCM2
Cerebrocostomandibular syndrome Cerebrocostomandibular syndrome (CCMS) [MIM:117650] SNRPB
Cerebrooculofacioskeletal syndrome Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756] ERCC2
Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) [MIM:610758] ERCC1
Cervical cancer Cervical cancer (CERCA) [MIM:603956] FGFR3
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease 2B (CMT2B) [MIM:600882] RAB7A
Charcot-Marie-Tooth disease 2L (CMT2L) [MIM:608673] HSPB8
Charcot-Marie-Tooth disease, X-linked recessive, 5 (CMTX5) [MIM:311070] PRPS1
Cherubism Cherubism (CRBM) [MIM:118400] SH3BP2
Chronic granulomatous disease Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive (CGD2) [MIM:233710] NCF2
Coagulation factor deficiency Factor XI deficiency (FA11D) [MIM:612416] F11
Coffin-Lowry syndrome Coffin-Lowry syndrome (CLS) [MIM:303600] RPS6KA3
Colorectal cancer Colorectal cancer (CRC) [MIM:114500] BRAF, CTNNB1
Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310] MLH1
Congenital bilateral absence of the vas deferens Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] CFTR
Congenital clubfoot Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly (CCF) [MIM:119800] PITX1
Corneal intraepithelial dyskeratosis and ectodermal dysplasia Corneal intraepithelial dyskeratosis and ectodermal dysplasia (CIDED) [MIM:615225] NLRP1
Cornelia de Lange syndrome Cornelia de Lange syndrome 4 (CDLS4) [MIM:614701] RAD21
Cortical dysplasia complex with other brain malformations Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039] TUBB3
Cowden disease Cowden syndrome 1 (CWS1) [MIM:158350] PTEN
Craniosynostosis Craniosynostosis 3 (CRS3) [MIM:615314] TCF12
Trigonocephaly 1 (TRIGNO1) [MIM:190440] FGFR1
Crouzon syndrome Crouzon syndrome (CS) [MIM:123500] FGFR2
Crouzon syndrome with acanthosis nigricans (CAN) [MIM:612247] FGFR3
Cutis laxa Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100] FBLN5
Cyanosis Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2
Cystic fibrosis Cystic fibrosis (CF) [MIM:219700] CFTR
Deafness Deafness, autosomal dominant, 20 (DFNA20) [MIM:604717] ACTG1
Deafness, autosomal recessive, 89 (DFNB89) [MIM:613916] KARS
Dementia Dementia Lewy body (DLB) [MIM:127750] SNCA
Frontotemporal dementia (FTD) [MIM:600274] MAPT
Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) [MIM:616437] SQSTM1
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (FTDALS4) [MIM:616439] TBK1
Denys-Drash syndrome Denys-Drash syndrome (DDS) [MIM:194080] WT1
Diabetes mellitus Diabetes mellitus, insulin-dependent, 2 (IDDM2) [MIM:125852] INS
Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] INSR
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] INS
Insulin-resistant diabetes mellitus with acanthosis nigricans type A (IRAN type A) [MIM:610549] INSR
Dihydrolipoamide dehydrogenase deficiency Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900] DLD
Du Pan syndrome Du Pan syndrome (DPS) [MIM:228900] GDF5
Dysfibrinogenemia Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] FGA, FGG, FGB
Dystonia Dystonia, dopa-responsive (DRD) [MIM:128230] GCH1
Dystonia, juvenile-onset (DJO) [MIM:607371] ACTB
Ectodermal dysplasia Ectodermal dysplasia, Rapp-Hodgkin type (EDRH) [MIM:129400] TP63
Ectodermal dysplasia, anhidrotic, with immunodeficiency X-linked (EDAID) [MIM:300291] IKBKG
Ectrodactyly-ectodermal dysplasia Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] TP63
Elliptocytosis Elliptocytosis 2 (EL2) [MIM:130600] SPTA1
Elliptocytosis 3 (EL3) [MIM:182870] SPTB
Emery-Dreifuss muscular dystrophy Emery-Dreifuss muscular dystrophy 2, autosomal dominant (EDMD2) [MIM:181350] LMNA
Encephalocraniocutaneous lipomatosis Encephalocraniocutaneous lipomatosis (ECCL) [MIM:613001] FGFR1
Enhanced S cone syndrome Enhanced S cone syndrome (ESCS) [MIM:268100] NR2E3
Epidermolysis bullosa Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760] KRT14
Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900] KRT14
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] KRT14
Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis (EHK) [MIM:113800] KRT10
Epilepsy Epilepsy, focal, with speech disorder and with or without mental retardation (FESD) [MIM:245570] GRIN2A
Epilepsy, progressive myoclonic 6 (EPM6) [MIM:614018] GOSR2
Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] STX1B
Epileptic encephalopathy Epileptic encephalopathy, early infantile, 31 (EIEE31) [MIM:616346] DNM1
Epileptic encephalopathy, early infantile, 33 (EIEE33) [MIM:616409] EEF1A2
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
Familial hyperproinsulinemia Hyperproinsulinemia (HPRI) [MIM:616214] INS
Fanconi anemia Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] BRCA2
Fanconi anemia complementation group O (FANCO) [MIM:613390] RAD51C
Fanconi anemia complementation group T (FANCT) [MIM:616435] UBE2T
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
Fragile X syndrome Fragile X syndrome (FRAX) [MIM:300624] FMR1
Galactosialidosis Galactosialidosis (GSL) [MIM:256540] CTSA
Gastric cancer Gastric cancer (GASC) [MIM:613659] KRAS
Hereditary diffuse gastric cancer (HDGC) [MIM:137215] CDH1
Glanzmann thrombasthenia Glanzmann thrombasthenia (GT) [MIM:273800] ITGA2B, ITGB3
Glaucoma Glaucoma 1, open angle, E (GLC1E) [MIM:137760] OPTN
Glomerulocystic kidney disease Renal cysts and diabetes syndrome (RCAD) [MIM:137920] HNF1B
Glucocorticoid resistance Glucocorticoid resistance, generalized (GCCR) [MIM:615962] NR3C1
Glutaric aciduria Glutaric aciduria 2B (GA2B) [MIM:231680] ETFB
Glycogen storage disease of heart Glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740] PRKAG2
Growth hormone deficiency Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100] GH1
Growth hormone insensitivity Growth hormone insensitivity with immunodeficiency (GHII) [MIM:245590] STAT5B
Growth hormone insensitivity, partial (GHIP) [MIM:604271] GHR
Hartsfield syndrome Hartsfield syndrome (HRTFDS) [MIM:615465] FGFR1
Hemangioma capillary infantile Hemangioma, capillary infantile (HCI) [MIM:602089] FLT4
Hematopoiesis Cyclic haematopoiesis (CH) [MIM:162800] ELANE
Hemolytic uremic syndrome Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] C3
Hemophilia Hemophilia A (HEMA) [MIM:306700] F8
Hemorrhagic 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
Hypercholanemia Familial hypercholanemia (FHCA) [MIM:607748] TJP2
Hypercholesterolemia Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] PCSK9
Hyperimmunoglobulin E recurrent infection syndrome Hyperimmunoglobulin E recurrent infection syndrome, autosomal dominant (AD-HIES) [MIM:147060] STAT3
Hyperinsulinemic hypoglycemia Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] INSR
Hyperoxaluria Hyperoxaluria primary 1 (HP1) [MIM:259900] AGXT
Hyperparathyroidism Familial isolated hyperparathyroidism (FIHP) [MIM:145000] MEN1
Hyperphenylalaninemia Hyperphenylalaninemia, BH4-deficient, B (HPABH4B) [MIM:233910] GCH1
Hyperthyroxinemia, dystransthyretinemic Hyperthyroxinemia, dystransthyretinemic (DTTRH) [MIM:145680] TTR
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] FGFR1
Hypophosphatemic nephrolithiasis/osteoporosis Nephrolithiasis/osteoporosis, hypophosphatemic, 2 (NPHLOP2) [MIM:612287] SLC9A3R1
Hypothyroidism Hypothyroidism, congenital, non-goitrous, 6 (CHNG6) [MIM:614450] THRA
IRAK4 deficiency IRAK4 deficiency (IRAK4D) [MIM:607676] IRAK4
Ichthyosis Ichthyosis annular epidermolytic (AEI) [MIM:607602] KRT10
Ichthyosis, congenital, autosomal recessive 11 (ARCI11) [MIM:602400] ST14
Immunodeficiency Immunodeficiency 10 (IMD10) [MIM:612783] STIM1
Immunodeficiency 16 (IMD16) [MIM:615593] TNFRSF4
Immunodeficiency 20 (IMD20) [MIM:615707] FCGR3A
Immunodeficiency 31A (IMD31A) [MIM:614892] STAT1
Immunodeficiency 33 (IMD33) [MIM:300636] IKBKG
Immunodeficiency 9 (IMD9) [MIM:612782] ORAI1
Immunodeficiency-centromeric instability-facial anomalies syndrome Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860] DNMT3B
Inclusion body myopathy Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] VCP
Infections recurrent associated with encephalopathy hepatic dysfunction and cardiovascular malformations Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759] FADD
Insensitivity to pain Congenital insensitivity to pain with anhidrosis (CIPA) [MIM:256800] NTRK1
Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) [MIM:123150] FGFR2, FGFR1
Jervell and Lange-Nielsen syndrome Jervell and Lange-Nielsen syndrome 1 (JLNS1) [MIM:220400] KCNQ1
Juvenile polyposis Juvenile polyposis syndrome (JPS) [MIM:174900] BMPR1A, SMAD4
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050] SMAD4
Keratinocytic non-epidermolytic nevus Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] FGFR3
Keratosis Keratosis, seborrheic (KERSEB) [MIM:182000] FGFR3
Lacrimo-auriculo-dento-digital syndrome Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] FGFR2
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 3 (LDS3) [MIM:613795] SMAD3
Long QT syndrome Long QT syndrome 14 (LQT14) [MIM:616247] CALM1
Long QT syndrome 15 (LQT15) [MIM:616249] CALM1
Lung cancer Lung cancer (LNCR) [MIM:211980] BRAF
Lymphoma Lymphoproliferative syndrome, X-linked, 1 (XLP1) [MIM:308240] SH2D1A
MASP2 deficiency MASP2 deficiency (MASPD) [MIM:613791] MASP2
Mandibuloacral dysplasia Mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612] ZMPSTE24
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
Medulloblastoma Medulloblastoma (MDB) [MIM:155255] APC, CTNNB1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 (MPPH1) [MIM:603387] PIK3R2
Melanoma Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] CDK4
Melanosis, neurocutaneous Melanosis, neurocutaneous (NCMS) [MIM:249400] NRAS
Mental retardation Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] CASK
Mental retardation, X-linked 102 (MRX102) [MIM:300958] DDX3X
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] PPP2R1A
Mental retardation, autosomal dominant 38 (MRD38) [MIM:616393] EEF1A2
Mental retardation, autosomal recessive 34 (MRT34) [MIM:614499] CRADD
Microcephaly Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950] KIF11
Microcephaly-capillary malformation syndrome Microcephaly-capillary malformation syndrome (MICCAP) [MIM:614261] STAMBP
Microphthalmia Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524] RARB
Muenke syndrome Muenke syndrome (MNKS) [MIM:602849] FGFR3
Multicentric osteolysis, nodulosis, and arthropathy Multicentric osteolysis, nodulosis, and arthropathy (MONA) [MIM:259600] MMP2
Multiple neoplasia Multiple neoplasia 2A (MEN2A) [MIM:171400] RET
Multiple neoplasia 2B (MEN2B) [MIM:162300] RET
Multiple self-healing squamous epithelioma Multiple self-healing squamous epithelioma (MSSE) [MIM:132800] TGFBR1
Multiple synostoses syndrome Multiple synostoses syndrome 1 (SYNS1) [MIM:186500] NOG
Myasthenic syndrome Myasthenic syndrome, congenital, 18 (CMS18) [MIM:616330] SNAP25
Myeloperoxidase deficiency Myeloperoxidase deficiency (MPOD) [MIM:254600] MPO
Myofibromatosis Myofibromatosis, infantile 1 (IMF1) [MIM:228550] PDGFRB
Myopathy Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] HRAS
Myopathy, distal, 1 (MPD1) [MIM:160500] MYH7
Myopathy, myosin storage, autosomal dominant (MSMA) [MIM:608358] MYH7
Narcolepsy Narcolepsy 1 (NRCLP1) [MIM:161400] HCRT
Neuroblastoma Neuroblastoma 3 (NBLST3) [MIM:613014] ALK
Neurofibromatosis Neurofibromatosis 2 (NF2) [MIM:101000] NF2
Neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] NF1
Neuronopathy Neuronopathy, distal hereditary motor, 2A (HMN2A) [MIM:158590] HSPB8
Neuropathy Neuropathy, hereditary sensory and autonomic, 1A (HSAN1A) [MIM:162400] SPTLC1
Neuropathy, hereditary sensory and autonomic, 5 (HSAN5) [MIM:608654] NGF
Neutropenia Dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847] GFI1
Neutrophil immunodeficiency syndrome Neutrophil immunodeficiency syndrome (NEUID) [MIM:608203] RAC2
Non-Hodgkin lymphoma Familial non-Hodgkin lymphoma (NHL) [MIM:605027] CASP10
Noonan syndrome Noonan syndrome 1 (NS1) [MIM:163950] PTPN11
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 Non-syndromic orofacial cleft 11 (OFC11) [MIM:600625] BMP4
Osseous heteroplasia Progressive osseous heteroplasia (POH) [MIM:166350] GNAS
Osteogenesis imperfecta Osteogenesis imperfecta 17 (OI17) [MIM:616507] SPARC
Osteogenesis imperfecta 2 (OI2) [MIM:166210] COL1A1, COL1A2
Osteogenesis imperfecta 3 (OI3) [MIM:259420] COL1A1
Osteogenesis imperfecta 4 (OI4) [MIM:166220] COL1A1
Otopalatodigital syndrome Otopalatodigital syndrome 2 (OPD2) [MIM:304120] FLNA
Ovarian cancer Ovarian cancer (OC) [MIM:167000] CTNNB1, BRCA1
Pachyonychia congenita Pachyonychia congenita 4 (PC4) [MIM:615728] KRT6B
Paget disease of bone Paget disease of bone 3 (PDB3) [MIM:167250] SQSTM1
Palmoplantar keratoderma Palmoplantar keratoderma, non-epidermolytic, focal or diffuse (PPKNEFD) [MIM:615735] KRT6C
Parkinson disease Parkinson disease (PARK) [MIM:168600] PARK2
Parkinson disease 1 (PARK1) [MIM:168601] SNCA
Parkinson disease 8 (PARK8) [MIM:607060] LRRK2
Periodic fever Familial hibernian fever (FHF) [MIM:142680] TNFRSF1A
Peroxisome biogenesis disorder Peroxisome biogenesis disorder 2B (PBD2B) [MIM:202370] PEX5
Peutz-Jeghers syndrome Peutz-Jeghers syndrome (PJS) [MIM:175200] STK11
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] FGFR2, FGFR1
Pheochromocytoma Pheochromocytoma (PCC) [MIM:171300] VHL, RET
Phosphoribosylpyrophosphate synthetase superactivity Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661] PRPS1
Piebaldism Piebald trait (PBT) [MIM:172800] KIT
Pigmented adrenocortical disease Primary pigmented nodular adrenocortical disease 4 (PPNAD4) [MIM:615830] PRKACA
Pilomatrixoma Pilomatrixoma (PTR) [MIM:132600] CTNNB1
Pitt-Hopkins syndrome Pitt-Hopkins syndrome (PTHS) [MIM:610954] TCF4
Plasminogen deficiency Plasminogen deficiency (PLGD) [MIM:217090] PLG
Pontocerebellar hypoplasia Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] EXOSC3
Pontocerebellar hypoplasia 1C (PCH1C) [MIM:616081] EXOSC8
Pontocerebellar hypoplasia 9 (PCH9) [MIM:615809] AMPD2
Premature ovarian failure Premature ovarian failure 7 (POF7) [MIM:612964] NR5A1
Progressive external ophthalmoplegia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131] POLG2
Propionic acidemia Propionic acidemia type II (PA-2) [MIM:606054] PCCB
Prostate cancer Prostate cancer (PC) [MIM:176807] CHEK2
Pseudohypoaldosteronism Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] NR3C2
Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] WNK4
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] KLHL3
Pseudohypoparathyroidism Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] GNAS
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] GNAS
Pulmonary hypertension Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] BMPR2
Pyropoikilocytosis Hereditary pyropoikilocytosis (HPP) [MIM:266140] SPTA1
Pyruvate carboxylase deficiency Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111] PDHB
RAS-associated autoimmune leukoproliferative disorder RAS-associated autoimmune leukoproliferative disorder (RALD) [MIM:614470] NRAS
Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome (RMS) [MIM:262190] INSR
Renal cell carcinoma Renal cell carcinoma (RCC) [MIM:144700] VHL
Renal cell carcinoma papillary (RCCP) [MIM:605074] MET
Retinitis pigmentosa Retinitis pigmentosa 13 (RP13) [MIM:600059] PRPF8
Retinitis pigmentosa 33 (RP33) [MIM:610359] SNRNP200
Retinitis pigmentosa 62 (RP62) [MIM:614181] MAK
Retinitis pigmentosa 72 (RP72) [MIM:616469] ZNF408
Retinoblastoma Childhood cancer retinoblastoma (RB) [MIM:180200] RB1
Richieri-Costa-Pereira syndrome Richieri-Costa-Pereira syndrome (RCPS) [MIM:268305] EIF4A3
Rickets Rickets vitamin D-dependent 2A (VDDR2A) [MIM:277440] VDR
Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome 1 (RSTS1) [MIM:180849] CREBBP
SHORT syndrome SHORT syndrome (SHORTS) [MIM:269880] PIK3R1
STING-associated vasculopathy STING-associated vasculopathy, infantile-onset (SAVI) [MIM:615934] TMEM173
Saethre-Chotzen syndrome Saethre-Chotzen syndrome (SCS) [MIM:101400] TWIST1
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
Selective T-cell defect Selective T-cell defect (STCD) [MIM:269840] ZAP70
Severe combined immunodeficiency Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID) [MIM:300400] IL2RG
Short stature Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541] XRCC4
Sick sinus syndrome Sick sinus syndrome 1 (SSS1) [MIM:608567] SCN5A
Singleton-Merten syndrome Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298] DDX58
Speech-language disorder 1 Speech-language disorder 1 (SPCH1) [MIM:602081] FOXP2
Spinal muscular atrophy Spinal muscular atrophy 1 (SMA1) [MIM:253300] SMN1
Split-hand/foot malformation Split-hand/foot malformation 4 (SHFM4) [MIM:605289] TP63
Stormorken syndrome Stormorken syndrome (STRMK) [MIM:185070] STIM1
Sveinsson chorioretinal atrophy Sveinsson chorioretinal atrophy (SCRA) [MIM:108985] TEAD1
Symphalangism Symphalangism, proximal 1B (SYM1B) [MIM:615298] GDF5
Tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome (TCC) [MIM:186570] NOG
Tatton-Brown-Rahman syndrome Tatton-Brown-Rahman syndrome (TBRS) [MIM:615879] DNMT3A
Temple-Baraitser syndrome Temple-Baraitser syndrome (TMBTS) [MIM:611816] KCNH1
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 Generalized thyroid hormone resistance (GTHR) [MIM:188570] THRB
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
Ventricular tachycardia Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916] CALM1
Verheij syndrome Verheij syndrome (VRJS) [MIM:615583] PUF60
Von Willebrand disease Pseudo-von Willebrand disease (VWDP) [MIM:177820] GP1BA
Waardenburg syndrome Waardenburg syndrome 1 (WS1) [MIM:193500] PAX3
Waardenburg syndrome 3 (WS3) [MIM:148820] PAX3
Weaver syndrome Weaver syndrome (WVS) [MIM:277590] EZH2
Wilms tumor Wilms tumor 1 (WT1) [MIM:194070] WT1
Wolff-Parkinson-White syndrome Wolff-Parkinson-White syndrome (WPWS) [MIM:194200] PRKAG2
Xeroderma pigmentosum Xeroderma pigmentosum complementation group D (XP-D) [MIM:278730] ERCC2
Xeroderma pigmentosum variant type (XPV) [MIM:278750] POLH
Zimmermann-Laband syndrome Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] KCNH1

[Show all]

Diseases with mutations on the two sides of the same interaction
DiseasePhenotypeRelevant interactions
ADULT syndrome Acro-dermato-ungual-lacrimal-tooth syndrome (ADULT syndrome) [MIM:103285] (TP53,TP63)
Acrodysostosis Acrodysostosis 1, with or without hormone resistance (ACRDYS1) [MIM:101800] (PRKAR1A,PRKACA)
Activated PI3K-delta syndrome Activated PI3K-delta syndrome (APDS) [MIM:615513] (PIK3CD,PIK3R1)
Adrenal hyperplasia X-linked adrenal hypoplasia congenital (XL-AHC) [MIM:300200] (PPARG,NR0B1), (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)
Aicardi-Goutieres syndrome Aicardi-Goutieres syndrome 2 (AGS2) [MIM:610181] (RNASEH2A,RNASEH2B), (RNASEH2B,RNASEH2C)
Aicardi-Goutieres syndrome 3 (AGS3) [MIM:610329] (RNASEH2A,RNASEH2C), (RNASEH2B,RNASEH2C)
Aicardi-Goutieres syndrome 4 (AGS4) [MIM:610333] (RNASEH2A,RNASEH2B), (RNASEH2A,RNASEH2C)
Alexander disease Alexander disease (ALXDRD) [MIM:203450] (VIM,GFAP)
Androgen insensitivity syndrome Androgen insensitivity syndrome (AIS) [MIM:300068] (NR3C2,AR)
Androgen insensitivity, partial (PAIS) [MIM:312300] (NR3C2,AR)
Antithrombin III deficiency Antithrombin III deficiency (AT3D) [MIM:613118] (F10,SERPINC1), (F2,SERPINC1), (F9,SERPINC1)
Aortic aneurysm Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] (CALM1,MYLK)
Apert syndrome Apert syndrome (APRS) [MIM:101200] (FGF10,FGFR2)
Autoimmune lymphoproliferative syndrome Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] (FAS,FADD), (FAS,CALM1)
Bleeding disorder Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] (ITGB3,ITGA2B)
Bosch-Boonstra-Schaaf optic atrophy syndrome Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) [MIM:615722] (ESR1,NR2F1)
Brachydactyly Brachydactyly A1, C (BDA1C) [MIM:615072] (GDF5,NOG)
Brachydactyly B2 (BDB2) [MIM:611377] (GDF5,NOG)
Brachydactyly C (BDC) [MIM:113100] (GDF5,NOG), (GDF5,BMPR2)
Breast cancer Breast cancer (BC) [MIM:114480] (PIK3R1,PIK3CA)
Brugada syndrome Brugada syndrome 1 (BRGDA1) [MIM:601144] (CALM1,SCN5A)
CLOVE syndrome Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] (PIK3R1,PIK3CA)
Cardiomyopathy Cardiomyopathy, dilated 1FF (CMD1FF) [MIM:613286] (TNNI3,TNNC1)
Cardiomyopathy, dilated 1GG (CMD1GG) [MIM:613642] (SDHB,SDHA)
Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184] (CRYAB,HSPB1), (CRYAA,CRYAB)
Cardiomyopathy, dilated 1NN (CMD1NN) [MIM:615916] (RAF1,PDGFRB), (RAF1,BRAF)
Cardiomyopathy, dilated 1S (CMD1S) [MIM:613426] (MYH7,XRCC4)
Cardiomyopathy, dilated 1Z (CMD1Z) [MIM:611879] (TNNI3,TNNC1)
Cardiomyopathy, familial hypertrophic 1 (CMH1) [MIM:192600] (MYH7,XRCC4)
Cardiomyopathy, familial hypertrophic 13 (CMH13) [MIM:613243] (TNNT2,TNNC1), (TNNI3,TNNC1)
Cardiomyopathy, familial hypertrophic 2 (CMH2) [MIM:115195] (TNNI3,TNNT2), (TNNT2,TNNC1)
Cardiomyopathy, familial hypertrophic 7 (CMH7) [MIM:613690] (TNNI3,TNNT2), (TNNI3,TNNC1)
Cardiomyopathy, familial restrictive 1 (RCM1) [MIM:115210] (TNNI3,TNNC1)
Cataract Cataract 30 (CTRCT30) [MIM:116300] (VIM,GFAP)
Cataract 9, multiple types (CTRCT9) [MIM:604219] (CRYAA,HSPB1), (CRYAA,CRYAB)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1 (PEOB1) [MIM:258450] (POLG,POLG2)
Charcot-Marie-Tooth disease Charcot-Marie-Tooth disease 2F (CMT2F) [MIM:606595] (CRYAB,HSPB1), (CRYAA,HSPB1), (HSPB1,HSPB8)
Charcot-Marie-Tooth disease 2L (CMT2L) [MIM:608673] (HSPB1,HSPB8), (CRYAB,HSPB8)
Coagulation factor deficiency Factor II deficiency (FA2D) [MIM:613679] (F2,FGB), (F2,SERPINC1), (F2,GP1BA), (F2,PROC), (F2,SERPIND1), (F2,FGA)
Factor X deficiency (FA10D) [MIM:227600] (F10,SERPINC1)
Colorectal cancer Colorectal cancer (CRC) [MIM:114500] (PIK3R1,PIK3CA)
Complement factors deficiency Complement factor H deficiency (CFHD) [MIM:609814] (C3,CFH)
Cone-rod dystrophy Cone dystrophy retinal 3B (RCD3B) [MIM:610356] (KCNB1,KCNV2)
Cortical dysplasia complex with other brain malformations Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039] (TUBB3,TUBA1A)
Cowden disease Cowden syndrome 5 (CWS5) [MIM:615108] (PIK3R1,PIK3CA)
Craniosynostosis Craniosynostosis 3 (CRS3) [MIM:615314] (MYF6,TCF12), (TWIST2,TCF12)
Crigler-Najjar syndrome Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1,UGT1A4)
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1,UGT1A4)
Crouzon syndrome Crouzon syndrome (CS) [MIM:123500] (FGF10,FGFR2)
Cutis laxa Cutis laxa, autosomal recessive, 1A (ARCL1A) [MIM:219100] (EFEMP2,FBLN5)
Cutis laxa, autosomal recessive, 1B (ARCL1B) [MIM:614437] (EFEMP2,FBLN5)
Dehydrated hereditary stomatocytosis 2 Dehydrated hereditary stomatocytosis 2 (DHS2) [MIM:616689] (KCNN4,CALM1)
Diabetes mellitus Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (INS,INSR)
Du Pan syndrome Du Pan syndrome (DPS) [MIM:228900] (GDF5,NOG)
Dysfibrinogenemia Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] (F2,FGB), (FGB,FGG), (F2,FGA), (FGA,FGB), (FGA,FGG)
Ehlers-Danlos syndrome Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] (COL3A1,SPARC)
Elliptocytosis Elliptocytosis 2 (EL2) [MIM:130600] (SPTA1,SPTB)
Elliptocytosis 3 (EL3) [MIM:182870] (SPTA1,SPTB)
Epidermolysis bullosa Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760] (KRT14,KRT5)
Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900] (KRT14,KRT5)
Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14,KRT5)
Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT1,KRT10)
Epileptic encephalopathy Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056] (KCNB1,KCNV2)
Epileptic encephalopathy, early infantile, 7 (EIEE7) [MIM:613720] (KCNQ2,CALM1)
Erythrocytosis Erythrocytosis, familial, 3 (ECYT3) [MIM:609820] (EPAS1,EGLN1)
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EPAS1,EGLN1)
Estrogen resistance Estrogen resistance (ESTRR) [MIM:615363] (ESR1,NR2F1)
Exudative vitreoretinopathy Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] (NDP,FZD4)
Vitreoretinopathy, exudative 2 (EVR2) [MIM:305390] (NDP,FZD4)
Faciocutaneoskeletal syndrome Costello syndrome (CSTLO) [MIM:218040] (HRAS,NF1), (HRAS,SOS1)
Focal facial dermal dysplasia Focal facial dermal dysplasia 3, Setleis type (FFDD3) [MIM:227260] (TWIST2,TCF12), (TCF4,TWIST2)
GM1/2-gangliosidosis GM2-gangliosidosis 1 (GM2G1) [MIM:272800] (HEXA,HEXB)
GM2-gangliosidosis 2 (GM2G2) [MIM:268800] (HEXA,HEXB)
Glanzmann thrombasthenia Glanzmann thrombasthenia (GT) [MIM:273800] (ITGB3,ITGA2B)
Glutaric aciduria Glutaric aciduria 2A (GA2A) [MIM:231680] (ETFA,ETFB)
Glutaric aciduria 2B (GA2B) [MIM:231680] (ETFA,ETFB)
Griscelli syndrome Griscelli syndrome 2 (GS2) [MIM:607624] (RAB27A,MLPH)
Griscelli syndrome 3 (GS3) [MIM:609227] (RAB27A,MLPH)
Growth hormone deficiency Growth hormone deficiency, isolated, 1B (IGHD1B) [MIM:612781] (GH1,GHR), (GH1,PRLR)
Growth hormone deficiency, isolated, 2 (IGHD2) [MIM:173100] (GH1,GHR), (GH1,PRLR)
Growth hormone insensitivity Growth hormone insensitivity, partial (GHIP) [MIM:604271] (GH1,GHR)
Hemolytic uremic syndrome Hemolytic uremic syndrome atypical 1 (AHUS1) [MIM:235400] (C3,CFH)
Hemolytic uremic syndrome atypical 2 (AHUS2) [MIM:612922] (C3,CD46)
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3,CD46), (C3,CFH)
Hemophilia Hemophilia B (HEMB) [MIM:306900] (F9,SERPINC1)
Hepatocellular carcinoma Hepatocellular carcinoma (HCC) [MIM:114550] (PIK3R1,PIK3CA), (MET,BTK)
High density lipoprotein deficiency High density lipoprotein deficiency 1 (HDLD1) [MIM:205400] (ABCA1,ABCA12)
Hypercholesterolemia Familial hypercholesterolemia (FH) [MIM:143890] (LDLR,PCSK9)
Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] (LDLR,PCSK9)
Hyperprolactinemia Hyperprolactinemia (HPRL) [MIM:615555] (GH1,PRLR)
Ichthyosis Ichthyosis annular epidermolytic (AEI) [MIM:607602] (KRT1,KRT10)
Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] (ABCA1,ABCA12)
Infections recurrent associated with encephalopathy hepatic dysfunction and cardiovascular malformations Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759] (FAS,FADD)
Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) [MIM:123150] (FGF10,FGFR2)
Juvenile polyposis Juvenile polyposis syndrome (JPS) [MIM:174900] (SMAD3,SMAD4)
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JP/HHT) [MIM:175050] (SMAD3,SMAD4)
Keratosis Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3R1,PIK3CA)
Lacrimo-auriculo-dento-digital syndrome Lacrimo-auriculo-dento-digital syndrome (LADDS) [MIM:149730] (FGF10,FGFR2)
Laron syndrome Laron syndrome (LARS) [MIM:262500] (GH1,GHR)
Leigh syndrome Leigh syndrome (LS) [MIM:256000] (POLG,POLG2)
Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170] (PDHA1,PDHB)
Leukodystrophy hypomyelinating Leukodystrophy, hypomyelinating, 11 (HLD11) [MIM:616494] (POLR1C,POLR1D)
Leukodystrophy with vanishing white matter Leukodystrophy with vanishing white matter (VWM) [MIM:603896] (EIF2B2,EIF2B4)
Li-Fraumeni syndrome Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53,TP63)
Lipodystrophy Lipodystrophy, familial partial, 3 (FPLD3) [MIM:604367] (PPARG,NR0B1)
Lissencephaly Lissencephaly 3 (LIS3) [MIM:611603] (TUBB3,TUBA1A)
Loeys-Dietz syndrome Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] (SMAD3,SMAD4)
Long QT syndrome Long QT syndrome 1 (LQT1) [MIM:192500] (KCNQ1,CALM1)
Long QT syndrome 14 (LQT14) [MIM:616247] (KCNQ1,CALM1), (FAS,CALM1), (KCNQ2,CALM1), (KCNN4,CALM1), (CALM1,MYLK), (CALM1,SCN5A)
Long QT syndrome 3 (LQT3) [MIM:603830] (CALM1,SCN5A)
Maple syrup urine disease Maple syrup urine disease 1A (MSUD1A) [MIM:248600] (BCKDHA,BCKDHB)
Maple syrup urine disease 1B (MSUD1B) [MIM:248600] (BCKDHA,BCKDHB)
Megalencephaly-capillary malformation-polymicrogyria syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501] (PIK3R1,PIK3CA)
Melanoma Melanoma, cutaneous malignant 2 (CMM2) [MIM:155601] (CDK4,CDKN2A)
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4,CDKN2A)
Metachromatic leukodystrophy Leukodystrophy metachromatic (MLD) [MIM:250100] (ARSA,SUMF1)
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)
Multiple sulfatase deficiency Multiple sulfatase deficiency (MSD) [MIM:272200] (ARSA,SUMF1)
Multiple synostoses syndrome Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] (GDF5,NOG), (GDF5,BMPR2)
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)
Noonan syndrome Noonan syndrome 4 (NS4) [MIM:610733] (HRAS,SOS1)
Noonan syndrome 7 (NS7) [MIM:613706] (RAF1,BRAF)
Norrie disease Norrie disease (ND) [MIM:310600] (NDP,FZD4)
Osteogenesis imperfecta Osteogenesis imperfecta 1 (OI1) [MIM:166200] (COL1A1,COL1A2)
Osteogenesis imperfecta 17 (OI17) [MIM:616507] (COL3A1,SPARC)
Osteogenesis imperfecta 2 (OI2) [MIM:166210] (COL1A1,COL1A2)
Osteogenesis imperfecta 3 (OI3) [MIM:259420] (COL1A1,COL1A2)
Osteogenesis imperfecta 4 (OI4) [MIM:166220] (COL1A1,COL1A2)
Pachyonychia congenita Pachyonychia congenita 2 (PC2) [MIM:167210] (KRT6A,KRT17)
Pachyonychia congenita 3 (PC3) [MIM:615726] (KRT6A,KRT17)
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] (FGF10,FGFR2)
Pheochromocytoma Pheochromocytoma (PCC) [MIM:171300] (SDHB,SDHA)
Pigmented adrenocortical disease Primary pigmented nodular adrenocortical disease 4 (PPNAD4) [MIM:615830] (PRKAR1A,PRKACA)
Pitt-Hopkins syndrome Pitt-Hopkins syndrome (PTHS) [MIM:610954] (TCF4,TWIST2)
Premature ovarian failure Premature ovarian failure 7 (POF7) [MIM:612964] (NR0B1,NR5A1)
Progressive external ophthalmoplegia Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4 (PEOA4) [MIM:610131] (POLG,POLG2)
Pseudohypoaldosteronism Pseudohypoaldosteronism 1, autosomal dominant (PHA1A) [MIM:177735] (NR3C2,AR)
Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] (WNK4,KLHL3)
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (WNK4,KLHL3)
Pulmonary hypertension Pulmonary hypertension, primary, 1 (PPH1) [MIM:178600] (GDF5,BMPR2)
Pyropoikilocytosis Hereditary pyropoikilocytosis (HPP) [MIM:266140] (SPTA1,SPTB)
Pyruvate carboxylase deficiency Pyruvate dehydrogenase E1-beta deficiency (PDHBD) [MIM:614111] (PDHA1,PDHB)
Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome (RMS) [MIM:262190] (INS,INSR)
Renal cell carcinoma Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET,BTK)
Retinitis pigmentosa Retinitis pigmentosa 13 (RP13) [MIM:600059] (SNRNP200,PRPF8)
Retinitis pigmentosa 33 (RP33) [MIM:610359] (SNRNP200,PRPF8)
SHORT syndrome SHORT syndrome (SHORTS) [MIM:269880] (PIK3R1,PIK3CA), (PIK3CD,PIK3R1)
Schimmelpenning-Feuerstein-Mims syndrome Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200] (HRAS,NF1), (HRAS,SOS1)
Seizures Seizures, benign familial neonatal 1 (BFNS1) [MIM:121200] (KCNQ2,CALM1)
Sensory ataxic neuropathy dysarthria and ophthalmoparesis Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459] (POLG,POLG2)
Short stature Short stature, microcephaly, and endocrine dysfunction (SSMED) [MIM:616541] (MYH7,XRCC4)
Sick sinus syndrome Sick sinus syndrome 1 (SSS1) [MIM:608567] (CALM1,SCN5A)
Sitosterolemia Sitosterolemia (STSL) [MIM:210250] (ABCG8,ABCG5)
Spinocerebellar ataxia Spinocerebellar ataxia with epilepsy (SCAE) [MIM:607459] (POLG,POLG2)
Symphalangism Symphalangism, proximal 1A (SYM1A) [MIM:185800] (GDF5,NOG)
Symphalangism, proximal 1B (SYM1B) [MIM:615298] (GDF5,NOG)
Tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (GDF5,NOG)
Thrombophilia Thrombophilia due to heparin cofactor 2 deficiency (THPH10) [MIM:612356] (F2,SERPIND1)
Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) [MIM:176860] (F2,PROC)
Treacher Collins syndrome Treacher Collins syndrome 2 (TCS2) [MIM:613717] (POLR1C,POLR1D)
Ventricular tachycardia Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT4) [MIM:614916] (KCNN4,CALM1), (KCNQ1,CALM1), (CALM1,SCN5A)
Von Willebrand disease Pseudo-von Willebrand disease (VWDP) [MIM:177820] (VWF,GP1BA), (F2,GP1BA)
Von Willebrand disease 2 (VWD2) [MIM:613554] (VWF,GP1BA)

[Show all]

Diseases having interaction interfaces enriched with mutations
Disease Disease phenotype (**) Interaction Log_2 Enrich. P-val Corr. P-val
3-hydroxy-3-methylglutaryl-CoA lyase deficiency 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911] (HMGCS2, HMGCS2) 1.919 0.0311 0.0311
All phenotypes (HMGCS2, HMGCS2) 1.919 0.0311 0.0621
Acyl-CoA dehydrogenase deficiency Acyl-CoA dehydrogenase very long-chain deficiency (ACADVLD) [MIM:201475] (ACADVL, ACADVL) 0.771 0.0283 0.0283
All phenotypes (ACADVL, ACADVL) 0.771 0.0283 0.113
Adenomatous polyposis Familial adenomatous polyposis (FAP) [MIM:175100] (APC, DLG3) 4.848 0.0343 0.0399
Familial adenomatous polyposis (FAP) [MIM:175100] (APC, DLG1) 4.625 0.0399 0.0399
Adrenoleukodystrophy Adrenoleukodystrophy (ALD) [MIM:300100] (ABCD1, ABCD2) 1.222 0.0014 0.00421
Adrenoleukodystrophy (ALD) [MIM:300100] (ABCD3, ABCD1) 0.881 0.0377 0.0566
Agammaglobulinemia All phenotypes (MET, BTK) 0.631 0.0238 0.143
X-linked agammaglobulinemia (XLA) [MIM:300755] (MET, BTK) 0.631 0.0238 0.0953
Alzheimer disease All phenotypes (APP, PITRM1) 3.284 0.0173 0.0779
All phenotypes (APP, LCN2) 2.754 0.0343 0.0885
All phenotypes (IGKC, APP) 2.647 0.0393 0.0885
All phenotypes (APP, APP) 1.482 1.58e-6 1.42e-5
Alzheimer disease 1 (AD1) [MIM:104300] (APP, PITRM1) 3.284 0.0173 0.052
Alzheimer disease 1 (AD1) [MIM:104300] (APP, LCN2) 2.754 0.0343 0.059
Alzheimer disease 1 (AD1) [MIM:104300] (IGKC, APP) 2.647 0.0393 0.059
Alzheimer disease 1 (AD1) [MIM:104300] (APP, APP) 1.482 1.58e-6 9.48e-6
Amelogenesis imperfecta Amelogenesis imperfecta 1H (AI1H) [MIM:616221] (TGFB3, ITGB6) 4.531 0.00245 0.0049
Amyotrophic lateral sclerosis All phenotypes (SHC1, ERBB4) 5.956 0.0161 0.121
All phenotypes (FUS, TNPO1) 3.281 1.4e-12 2.1e-11
All phenotypes (VCP, VCP) 1.100 0.0474 0.237
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14) [MIM:613954] (VCP, VCP) 1.100 0.0474 0.0949
Amyotrophic lateral sclerosis 19 (ALS19) [MIM:615515] (SHC1, ERBB4) 5.956 0.0161 0.0161
Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (ALS6) [MIM:608030] (FUS, TNPO1) 3.281 1.4e-12 1.4e-12
Antithrombin III deficiency Antithrombin III deficiency (AT3D) [MIM:613118] (F9, SERPINC1) 1.000 0.0357 0.133
Aortic aneurysm Aortic aneurysm, familial thoracic 7 (AAT7) [MIM:613780] (CALM1, MYLK) 5.287 0.0256 0.0256
Apert syndrome Apert syndrome (APRS) [MIM:101200] (FGF10, FGFR2) 3.945 0.000274 0.000833
Apert syndrome (APRS) [MIM:101200] (FGF5, FGFR2) 3.874 0.000317 0.000833
Apert syndrome (APRS) [MIM:101200] (FGF2, FGFR2) 3.775 0.00039 0.000833
Apert syndrome (APRS) [MIM:101200] (FGF3, FGFR2) 3.743 0.000416 0.000833
Apert syndrome (APRS) [MIM:101200] (FGFR2, FGF8) 3.512 0.000674 0.00108
Apert syndrome (APRS) [MIM:101200] (FGF7, FGFR2) 3.313 0.00102 0.00136
Apert syndrome (APRS) [MIM:101200] (FGF1, FGFR2) 3.057 0.00173 0.00198
Atrial septal defect All phenotypes (MYH6, MYL7) 4.825 0.0353 0.0705
Atrial septal defect 3 (ASD3) [MIM:614089] (MYH6, MYL7) 4.825 0.0353 0.0353
Autoimmune disease Autoimmune disease, multisystem, infantile-onset (ADMIO) [MIM:615952] (PIK3R2, STAT3) 4.194 0.00388 0.0272
Autoimmune disease, multisystem, infantile-onset (ADMIO) [MIM:615952] (STAT3, STAT3) 2.647 0.0316 0.111
Autoimmune lymphoproliferative syndrome All phenotypes (ILK, CASP8) 4.618 0.0407 0.163
All phenotypes (FAS, RIPK1) 2.878 0.000469 0.00376
Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859] (FAS, RIPK1) 2.878 0.000469 0.00188
Caspase-8 deficiency (CASP8D) [MIM:607271] (ILK, CASP8) 4.618 0.0407 0.0407
Autoimmune polyendocrine syndrome Autoimmune polyendocrine syndrome 1, with or without reversible metaphyseal dysplasia (APS1) [MIM:240300] (AIRE, AIRE) 2.106 0.0184 0.0184
Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated Autoinflammation, antibody deficiency, and immune dysregulation PLCG2-associated (APLAID) [MIM:614878] (PLCG2, PIK3R1) 4.490 0.0445 0.063
Basal cell nevus syndrome Melanocytic nevus syndrome, congenital (CMNS) [MIM:137550] (NRAS, RASA1) 2.254 0.00921 0.00921
Bladder cancer Bladder cancer (BLC) [MIM:109800] (FGF1, FGFR3) 2.668 0.0349 0.0649
Bleeding disorder All phenotypes (ITGA2B, FLNA) 7.104 5.28e-5 0.000211
All phenotypes (ITGB3, TLN1) 5.181 0.0276 0.0367
All phenotypes (ITGB3, ITGA2B) 1.885 0.0198 0.0367
Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] (ITGA2B, FLNA) 7.104 5.28e-5 0.000159
Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] (ITGB3, TLN1) 5.181 0.0276 0.0276
Bleeding disorder, platelet-type 16 (BDPLT16) [MIM:187800] (ITGB3, ITGA2B) 1.885 0.0198 0.0276
Bone mineral density variability High bone mass trait (HBM) [MIM:601884] (LRP5, SOST) 5.169 0.0276 0.0276
Brachydactyly All phenotypes (IHH, CDON) 2.935 0.0235 0.0566
All phenotypes (IHH, BOC) 2.865 0.0257 0.0566
All phenotypes (BMP2, NOG) 2.254 0.000836 0.00919
All phenotypes (BMP7, NOG) 1.892 0.0115 0.0496
All phenotypes (GDF5, NOG) 1.372 0.0135 0.0496
Brachydactyly A1 (BDA1) [MIM:112500] (IHH, CDON) 2.935 0.0235 0.0257
Brachydactyly A1 (BDA1) [MIM:112500] (IHH, BOC) 2.865 0.0257 0.0257
Brachydactyly B2 (BDB2) [MIM:611377] (BMP2, NOG) 2.254 0.000836 0.00334
Brachydactyly B2 (BDB2) [MIM:611377] (GDF5, NOG) 1.972 0.00934 0.0153
Brachydactyly B2 (BDB2) [MIM:611377] (BMP7, NOG) 1.892 0.0115 0.0153
Breast cancer All phenotypes (BRCA2, PALB2) 5.246 2.02e-6 3.23e-5
All phenotypes (BRCA1, ATRIP) 3.138 0.00384 0.0205
All phenotypes (BRCA1, BRAT1) 3.138 0.00384 0.0205
All phenotypes (PIK3CA, PIK3R3) 2.573 0.0349 0.0921
All phenotypes (PIK3R1, PIK3CA) 2.380 0.045 0.0921
All phenotypes (BRCA1, ACACA) 2.264 0.0204 0.0817
All phenotypes (BRCA1, FAM175A) 1.865 0.0422 0.0921
All phenotypes (BRCA1, BRIP1) 1.816 0.046 0.0921
Breast cancer (BC) [MIM:114480] (BRCA2, PALB2) 5.246 2.02e-6 2.83e-5
Breast cancer (BC) [MIM:114480] (BRCA1, ATRIP) 3.138 0.00384 0.0179
Breast cancer (BC) [MIM:114480] (BRCA1, BRAT1) 3.138 0.00384 0.0179
Breast cancer (BC) [MIM:114480] (PIK3CA, PIK3R3) 2.573 0.0349 0.0806
Breast cancer (BC) [MIM:114480] (PIK3R1, PIK3CA) 2.380 0.045 0.0806
Breast cancer (BC) [MIM:114480] (BRCA1, ACACA) 2.264 0.0204 0.0715
Breast cancer (BC) [MIM:114480] (BRCA1, FAM175A) 1.865 0.0422 0.0806
Breast cancer (BC) [MIM:114480] (BRCA1, BRIP1) 1.816 0.046 0.0806
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) 2.573 0.0349 0.045
Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) [MIM:612918] (PIK3R1, PIK3CA) 2.380 0.045 0.045
Cardiofaciocutaneous syndrome All phenotypes (DIRAS3, KRAS) 2.593 0.00843 0.0927
All phenotypes (KRAS, ZDHHC17) 2.593 0.0384 0.211
Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] (DIRAS3, KRAS) 2.593 0.00843 0.0421
Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278] (KRAS, ZDHHC17) 2.593 0.0384 0.096
Cardiomyopathy All phenotypes (CRYAB, HSPB2) 2.281 0.0423 0.45
All phenotypes (BAG3, HSPA8) 2.200 0.0153 0.45
Cardiomyopathy, dilated 1EE (CMD1EE) [MIM:613252] (MYH6, MYL7) 4.825 0.0353 0.0353
Cardiomyopathy, dilated 1HH (CMD1HH) [MIM:613881] (BAG3, HSPA8) 2.200 0.0153 0.0153
Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184] (CRYAB, HSPB2) 2.281 0.0423 0.157
Cardiomyopathy, dilated 1R (CMD1R) [MIM:613424] (CAPN1, ACTC1) 4.966 0.0317 0.0317
Cerebral amyloid angiopathy Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, PITRM1) 5.570 1.56e-5 7.78e-5
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, LCN2) 5.039 4.66e-5 0.000117
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, IDE) 4.492 0.000144 0.000241
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (IGKC, APP) 4.347 0.0035 0.00438
Cerebral amyloid angiopathy, APP-related (CAA-APP) [MIM:605714] (APP, APP) 1.482 0.0164 0.0164
Cerebrooculofacioskeletal syndrome All phenotypes (ERCC2, GTF2H2) 4.569 0.0417 0.0667
All phenotypes (ERCC2, GTF2H2C) 4.476 0.0444 0.0667
Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756] (ERCC2, GTF2H2) 4.569 0.0417 0.0444
Cerebro-oculo-facio-skeletal syndrome 2 (COFS2) [MIM:610756] (ERCC2, GTF2H2C) 4.476 0.0444 0.0444
Cherubism Cherubism (CRBM) [MIM:118400] (SH3BP2, TNKS2) 3.492 4.38e-8 4.38e-8
Citrullinemia Citrullinemia 1 (CTLN1) [MIM:215700] (ASS1, ASS1) 0.443 0.0423 0.0423
Coagulation factor deficiency All phenotypes (F2, F5) 3.209 0.0184 0.135
All phenotypes (F2, F2R) 2.134 0.00224 0.0494
All phenotypes (F2, SERPINC1) 2.116 0.00843 0.0927
All phenotypes (F2, SERPIND1) 1.946 0.0355 0.164
All phenotypes (F2, GP1BA) 1.920 0.0372 0.164
Factor II deficiency (FA2D) [MIM:613679] (F2, F5) 3.209 0.0184 0.0918
Factor II deficiency (FA2D) [MIM:613679] (F2, F2R) 2.134 0.00224 0.0337
Factor II deficiency (FA2D) [MIM:613679] (F2, SERPINC1) 2.116 0.00843 0.0632
Factor II deficiency (FA2D) [MIM:613679] (F2, SERPIND1) 1.946 0.0355 0.112
Factor II deficiency (FA2D) [MIM:613679] (F2, GP1BA) 1.920 0.0372 0.112
Colorectal cancer All phenotypes (HLA-A, CTNNB1) 5.975 0.0159 0.035
All phenotypes (CTNNB1, FBXW11) 5.837 0.0175 0.035
All phenotypes (BRAF, MAP2K1) 2.595 0.00838 0.035
All phenotypes (BRAF, MAP2K2) 2.225 0.0173 0.035
All phenotypes (PIK3CA, PIK3R3) 2.158 0.0076 0.035
All phenotypes (PIK3R1, PIK3CA) 1.965 0.0123 0.035
Colorectal cancer (CRC) [MIM:114500] (HLA-A, CTNNB1) 5.975 0.0159 0.0204
Colorectal cancer (CRC) [MIM:114500] (CTNNB1, FBXW11) 5.837 0.0175 0.0204
Colorectal cancer (CRC) [MIM:114500] (BRAF, MAP2K1) 2.595 0.00838 0.0204
Colorectal cancer (CRC) [MIM:114500] (BRAF, MAP2K2) 2.225 0.0173 0.0204
Colorectal cancer (CRC) [MIM:114500] (PIK3CA, PIK3R3) 2.158 0.0076 0.0204
Colorectal cancer (CRC) [MIM:114500] (PIK3R1, PIK3CA) 1.965 0.0123 0.0204
Cone-rod dystrophy All phenotypes (CRX, RAX2) 2.303 0.0411 0.164
Cone-rod dystrophy 2 (CORD2) [MIM:120970] (CRX, RAX2) 2.303 0.0411 0.0411
Congenital disorder of glycosylation Congenital disorder of glycosylation 1Z (CDG1Z) [MIM:616457] (CAD, CAD) 4.435 0.0462 0.0462
Corneal intraepithelial dyskeratosis and ectodermal dysplasia Corneal intraepithelial dyskeratosis and ectodermal dysplasia (CIDED) [MIM:615225] (PYDC2, NLRP1) 4.551 0.0427 0.0427
Cortical dysplasia complex with other brain malformations All phenotypes (TUBB3, TUBA1A) 1.765 0.0359 0.108
Cortical dysplasia, complex, with other brain malformations 1 (CDCBM1) [MIM:614039] (TUBB3, TUBA1A) 1.765 0.0359 0.0717
Corticosterone methyloxidase deficiency All phenotypes (CYP11B2, CYP11B2) 1.877 0.0366 0.0366
Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600] (CYP11B2, CYP11B2) 2.140 0.0204 0.0204
Creutzfeldt-Jakob disease Creutzfeldt-Jakob disease (CJD) [MIM:123400] (PRNP, PRNP) 0.912 0.012 0.012
Crigler-Najjar syndrome All phenotypes (UGT1A1, UGT1A10) 1.800 9.36e-5 0.000601
All phenotypes (UGT1A1, UGT1A8) 1.800 9.36e-5 0.000601
All phenotypes (UGT1A1, UGT1A3) 1.762 0.00012 0.000601
All phenotypes (UGT1A1, UGT1A1) 1.713 0.000336 0.000907
All phenotypes (UGT1A9, UGT1A1) 1.713 0.000336 0.000907
All phenotypes (UGT1A1, UGT1A7) 1.674 0.000423 0.000907
All phenotypes (UGT1A6, UGT1A1) 1.674 0.000423 0.000907
All phenotypes (UGT1A1, UGT1A4) 1.306 0.00137 0.00257
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A10) 2.144 0.000221 0.00132
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A8) 2.144 0.000221 0.00132
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A3) 2.107 0.000265 0.00132
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A1) 1.990 0.00118 0.00259
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A9, UGT1A1) 1.990 0.00118 0.00259
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A7) 1.952 0.00138 0.00259
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A6, UGT1A1) 1.952 0.00138 0.00259
Crigler-Najjar syndrome 1 (CN1) [MIM:218800] (UGT1A1, UGT1A4) 1.708 0.000806 0.00259
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A1) 1.859 0.00215 0.0029
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A9, UGT1A1) 1.859 0.00215 0.0029
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A10) 1.821 0.0025 0.0029
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A7) 1.821 0.0025 0.0029
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A8) 1.821 0.0025 0.0029
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A6, UGT1A1) 1.821 0.0025 0.0029
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A3) 1.783 0.0029 0.0029
Crigler-Najjar syndrome 2 (CN2) [MIM:606785] (UGT1A1, UGT1A4) 1.783 0.0029 0.0029
Crouzon syndrome All phenotypes (FGF2, FGFR2) 1.190 0.0445 0.151
All phenotypes (FGFR2, FGF8) 1.149 0.0345 0.151
Crouzon syndrome (CS) [MIM:123500] (FGF2, FGFR2) 1.190 0.0445 0.178
Crouzon syndrome (CS) [MIM:123500] (FGFR2, FGF8) 1.149 0.0345 0.178
Cutis laxa All phenotypes (PYCR1, PYCR1) 0.822 0.0437 0.219
Diabetes mellitus All phenotypes (INS, INSR) 1.263 0.0023 0.0196
All phenotypes (INS, INS) 0.737 0.00135 0.0196
All phenotypes (INS, IDE) 0.652 0.0391 0.222
Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] (SH2B2, INSR) 5.280 0.0255 0.081
Diabetes mellitus, non-insulin-dependent (NIDDM) [MIM:125853] (INSR, SH2B1) 4.932 0.0324 0.081
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (INS, INSR) 1.356 0.00113 0.009
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (INS, IDE) 0.745 0.0201 0.0537
Diabetes mellitus, permanent neonatal (PNDM) [MIM:606176] (INS, INS) 0.731 0.00226 0.00905
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 0.153
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) 3.504 1.78e-12 3.56e-12
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3) [MIM:604292] (TP53BP2, TP63) 3.388 4.92e-12 4.92e-12
Ehlers-Danlos syndrome Ehlers-Danlos syndrome 4 (EDS4) [MIM:130050] (COL3A1, COL3A1) 1.746 1.03e-10 2.05e-10
Elliptocytosis All phenotypes (SPTA1, SPTB) 4.613 9.73e-19 2.92e-18
All phenotypes (SPTA1, SPTBN1) 3.687 4.79e-11 7.18e-11
Elliptocytosis 2 (EL2) [MIM:130600] (SPTA1, SPTB) 5.088 1.32e-15 2.63e-15
Elliptocytosis 2 (EL2) [MIM:130600] (SPTA1, SPTBN1) 3.687 4.79e-11 4.79e-11
Elliptocytosis 3 (EL3) [MIM:182870] (SPTA1, SPTB) 4.203 2.43e-5 4.85e-5
Elliptocytosis 3 (EL3) [MIM:182870] (SPTB, SPTAN1) 3.407 0.000211 0.000211
Epidermolysis bullosa Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800] (KRT14, KRT5) 0.817 0.0108 0.0538
Epidermolytic hyperkeratosis Epidermolytic hyperkeratosis (EHK) [MIM:113800] (KRT1, KRT10) 0.987 0.00419 0.00419
Epilepsy All phenotypes (SNAP23, STX1B) 2.859 0.019 0.19
Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172] (SNAP23, STX1B) 2.859 0.019 0.038
Epileptic encephalopathy All phenotypes (KCNB1, KCNG1) 1.779 0.0153 0.224
Epileptic encephalopathy, early infantile, 26 (EIEE26) [MIM:616056] (KCNB1, KCNG1) 1.779 0.0153 0.122
Erythrocytosis All phenotypes (EPAS1, EGLN3) 4.262 0.000334 0.002
All phenotypes (EGLN2, EPAS1) 3.966 0.00644 0.0129
All phenotypes (EPAS1, EGLN1) 3.362 0.00237 0.0071
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EPAS1, EGLN3) 4.262 0.000334 0.001
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EGLN2, EPAS1) 3.966 0.00644 0.0079
Erythrocytosis, familial, 4 (ECYT4) [MIM:611783] (EPAS1, EGLN1) 3.814 0.0079 0.0079
Exudative vitreoretinopathy All phenotypes (FZD4, FZD4) 1.904 0.00865 0.026
Vitreoretinopathy, exudative 1 (EVR1) [MIM:133780] (FZD4, FZD4) 1.904 0.00865 0.0173
Fabry disease Fabry disease (FD) [MIM:301500] (GLA, GLA) 0.707 0.0134 0.0134
Faciocutaneoskeletal syndrome Costello syndrome (CSTLO) [MIM:218040] (HRAS, NF1) 1.874 7.54e-5 0.000381
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RASA1) 1.833 9.53e-5 0.000381
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RIN1) 1.470 0.00529 0.00606
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RASGRF1) 1.441 0.00246 0.00394
Costello syndrome (CSTLO) [MIM:218040] (HRAS, SOS2) 1.418 0.000997 0.00266
Costello syndrome (CSTLO) [MIM:218040] (HRAS, RGL1) 1.359 0.00138 0.00276
Costello syndrome (CSTLO) [MIM:218040] (RGL2, HRAS) 1.278 0.0053 0.00606
Costello syndrome (CSTLO) [MIM:218040] (HRAS, SOS1) 0.745 0.0184 0.0184
Fanconi anemia All phenotypes (BRCA2, SHFM1) 2.939 0.017 0.051
Fanconi anemia complementation group D1 (FANCD1) [MIM:605724] (BRCA2, SHFM1) 2.939 0.017 0.017
Fibrodysplasia ossificans progressiva Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] (FKBP1B, ACVR1) 2.621 0.0101 0.0402
Fibrodysplasia ossificans progressiva (FOP) [MIM:135100] (FKBP1A, ACVR1) 2.135 0.0251 0.0502
Focal segmental glomerulosclerosis Focal segmental glomerulosclerosis 1 (FSGS1) [MIM:603278] (ACTN4, IQGAP1) 4.646 7.21e-6 1.44e-5
Gastric cancer All phenotypes (KRAS, ZDHHC17) 3.330 0.0126 0.063
Gastric cancer (GASC) [MIM:613659] (KRAS, ZDHHC17) 3.330 0.0126 0.0378
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 0.069
Hemolytic uremic syndrome All phenotypes (C3, CR2) 3.452 0.000314 0.000943
All phenotypes (C3, CD46) 2.435 0.0165 0.033
All phenotypes (C3, CFH) 1.686 0.00011 0.000662
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3, CR2) 3.452 0.000314 0.000786
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3, CD46) 3.001 0.0246 0.041
Hemolytic uremic syndrome atypical 5 (AHUS5) [MIM:612925] (C3, CFH) 2.686 9.9e-5 0.000495
Hemophilia All phenotypes (F9, SERPINC1) 0.641 0.0302 0.0907
Hemophilia B (HEMB) [MIM:306900] (F9, SERPINC1) 0.641 0.0302 0.0604
Hepatocellular carcinoma Hepatocellular carcinoma (HCC) [MIM:114550] (SOCS3, MET) 4.794 0.0017 0.0198
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, GRB7) 4.572 0.00231 0.0198
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, GRB14) 4.521 0.00248 0.0198
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, KDR) 3.402 0.0114 0.0686
Hepatocellular carcinoma (HCC) [MIM:114550] (MET, BTK) 2.904 0.0224 0.108
Hirschsprung disease All phenotypes (RET, GRB10) 1.606 0.0134 0.038
All phenotypes (RET, RET) 1.033 0.0152 0.038
Hirschsprung disease 1 (HSCR1) [MIM:142623] (RET, GRB10) 1.606 0.0134 0.0304
Hirschsprung disease 1 (HSCR1) [MIM:142623] (RET, RET) 1.033 0.0152 0.0304
Hypercholesterolemia All phenotypes (, PCSK9) 2.623 0.0104 0.052
All phenotypes (LDLR, APOH) 1.534 0.03 0.0621
All phenotypes (LDLR, PCSK9) 1.169 0.0373 0.0621
Familial hypercholesterolemia (FH) [MIM:143890] (LDLR, APOH) 1.534 0.03 0.12
Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] (LDLR, PCSK9) 2.913 0.0273 0.0273
Hypercholesterolemia, autosomal dominant, 3 (HCHOLA3) [MIM:603776] (, PCSK9) 2.623 0.0104 0.0208
Hyperekplexia Hyperekplexia 1 (HKPX1) [MIM:149400] (GLRA1, GLRA1) 1.322 6.22e-5 6.22e-5
Hyperinsulinemic hypoglycemia All phenotypes (INSR, IRS1) 5.680 0.0195 0.0398
All phenotypes (INSR, GRB7) 5.280 0.0257 0.0398
All phenotypes (INSR, GRB10) 5.237 0.0265 0.0398
All phenotypes (INSR, GRB14) 5.237 0.0265 0.0398
Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] (INSR, IRS1) 5.680 0.0195 0.0265
Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] (INSR, GRB7) 5.280 0.0257 0.0265
Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] (INSR, GRB10) 5.237 0.0265 0.0265
Familial hyperinsulinemic hypoglycemia 5 (HHF5) [MIM:609968] (INSR, GRB14) 5.237 0.0265 0.0265
Hypocalcemia Hypocalcemia, autosomal dominant 1 (HYPOC1) [MIM:601198] (CASR, CASR) 1.544 0.0358 0.0358
Hypocalciuric hypercalcemia Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980] (CASR, CASR) 0.998 0.0499 0.0499
Hypogonadotropic hypogonadism All phenotypes (FGF19, FGFR1) 1.317 0.0216 0.194
Hypogonadotropic hypogonadism 2 with or without anosmia (HH2) [MIM:147950] (FGF19, FGFR1) 1.317 0.0216 0.173
Hypomyelination with brainstem and spinal cord involvement and leg spasticity Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL) [MIM:615281] (DARS, DARS) 1.637 0.00879 0.00879
Ichthyosis All phenotypes (ABCA1, ABCA12) 2.744 0.0325 0.324
Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277] (ABCA1, ABCA12) 2.744 0.0325 0.0325
Immunodeficiency All phenotypes (NFKBIA, IKBKG) 4.000 0.00506 0.0608
All phenotypes (UBC, IKBKG) 2.515 0.0377 0.226
Immunodeficiency 31A (IMD31A) [MIM:614892] (STAT1, STAT1) 1.734 0.044 0.132
Immunodeficiency 33 (IMD33) [MIM:300636] (NFKBIA, IKBKG) 4.585 0.00174 0.00521
Immunodeficiency 33 (IMD33) [MIM:300636] (UBC, IKBKG) 3.100 0.0136 0.0204
Inclusion body myopathy Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1) [MIM:167320] (VCP, VCP) 0.877 0.0434 0.0868
Incontinentia pigmenti Incontinentia pigmenti (IP) [MIM:308300] (UBC, IKBKG) 2.100 0.0242 0.121
Infections recurrent associated with encephalopathy hepatic dysfunction and cardiovascular malformations Infections, recurrent, associated with encephalopathy, hepatic dysfunction and cardiovascular malformations (IEHDCM) [MIM:613759] (TNFRSF1A, FADD) 4.408 0.0471 0.144
Jackson-Weiss syndrome Jackson-Weiss syndrome (JWS) [MIM:123150] (FGF1, FGFR1) 4.342 0.0493 0.201
Jackson-Weiss syndrome (JWS) [MIM:123150] (FGF19, FGFR1) 4.342 0.0493 0.201
Juvenile polyposis All phenotypes (BMPR1A, BMPR1A) 2.944 0.0259 0.207
Juvenile polyposis syndrome (JPS) [MIM:174900] (BMPR1A, BMPR1A) 2.944 0.0259 0.118
Keratinocytic non-epidermolytic nevus Keratinocytic non-epidermolytic nevus (KNEN) [MIM:162900] (NRAS, RASA1) 2.254 0.00921 0.0736
Keratosis Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3CA, PIK3R3) 2.743 0.00515 0.019
Keratosis, seborrheic (KERSEB) [MIM:182000] (PIK3R1, PIK3CA) 2.550 0.00759 0.019
Keratosis, seborrheic (KERSEB) [MIM:182000] (FGFR3, FGFR3) 2.504 0.045 0.0749
Leopard syndrome All phenotypes (ERBB2, PTPN11) 3.910 8.55e-5 0.00077
All phenotypes (PTPN11, PTPN11) 1.337 0.0291 0.13
LEOPARD syndrome 1 (LPRD1) [MIM:151100] (ERBB2, PTPN11) 3.910 8.55e-5 0.000171
LEOPARD syndrome 1 (LPRD1) [MIM:151100] (PTPN11, PTPN11) 1.337 0.0291 0.0291
Leprechaunism Leprechaunism (LEPRCH) [MIM:246200] (INSR, PLCG1) 3.095 0.0226 0.136
Leukemia Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (MET, PTPN11) 4.505 8.02e-8 2.41e-7
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (GRB2, PTPN11) 3.062 3.8e-8 2.28e-7
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (ERBB2, PTPN11) 2.620 0.0403 0.0527
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (NRAS, RASA1) 2.254 0.0439 0.0527
Leukemia, juvenile myelomonocytic (JMML) [MIM:607785] (PTPN11, PTPN11) 1.895 4.27e-5 8.53e-5
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105] (DARS2, DARS2) 1.687 0.000571 0.00114
Li-Fraumeni syndrome Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53BP2) 1.636 0.000456 0.00159
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, PPP1R13L) 1.604 0.000104 0.00073
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, BCL2) 1.051 0.0124 0.0283
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, BCL2L1) 0.999 0.0162 0.0283
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53BP1) 0.859 0.0206 0.0288
Li-Fraumeni syndrome (LFS) [MIM:151623] (TP53, TP53) 0.388 0.0248 0.0289
Limb-girdle muscular dystrophy All phenotypes (LMNA, LMNB1) 1.469 0.0402 0.115
Loeys-Dietz syndrome All phenotypes (SMAD3, SMAD4) 1.941 0.0298 0.149
Loeys-Dietz syndrome 3 (LDS3) [MIM:613795] (SMAD3, SMAD4) 1.941 0.0298 0.0595
Long QT syndrome All phenotypes (MYO1C, CALM1) 1.272 0.0067 0.288
Long QT syndrome 14 (LQT14) [MIM:616247] (CALM1, NRGN) 2.464 0.0403 0.475
Long QT syndrome 14 (LQT14) [MIM:616247] (CALM1, IQCE) 2.386 0.0446 0.475
Long QT syndrome 14 (LQT14) [MIM:616247] (GAP43, CALM1) 2.386 0.0446 0.475
Long QT syndrome 15 (LQT15) [MIM:616249] (MYO1C, CALM1) 1.371 0.0152 0.0609
Maple syrup urine disease All phenotypes (BCKDHB, BCKDHB) 1.861 0.0346 0.104
Maple syrup urine disease 1B (MSUD1B) [MIM:248600] (BCKDHB, BCKDHB) 1.861 0.0346 0.0693
McCune-Albright syndrome McCune-Albright syndrome (MAS) [MIM:174800] (GNAS, GNAS) 1.747 0.0264 0.0264
Medullary thyroid carcinoma Medullary thyroid carcinoma (MTC) [MIM:155240] (RET, PTK2) 2.654 0.0383 0.0958
Medullary thyroid carcinoma (MTC) [MIM:155240] (EGFR, RET) 2.635 0.0105 0.0523
Medulloblastoma Medulloblastoma (MDB) [MIM:155255] (HLA-A, CTNNB1) 5.975 0.000253 0.000612
Medulloblastoma (MDB) [MIM:155255] (CTNNB1, FBXW11) 5.837 0.000306 0.000612
Medulloblastoma (MDB) [MIM:155255] (JUP, APC) 3.651 0.00634 0.00845
Melanoma All phenotypes (CDK4, CDKN2C) 2.894 0.0227 0.109
All phenotypes (CDK4, CDKN2D) 2.694 0.0296 0.109
All phenotypes (CDK4, CDKN2A) 0.862 0.018 0.109
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2C) 2.894 0.0227 0.13
Melanoma, cutaneous malignant 3 (CMM3) [MIM:609048] (CDK4, CDKN2D) 2.694 0.0296 0.13
Melanosis, neurocutaneous Melanosis, neurocutaneous (NCMS) [MIM:249400] (NRAS, RASA1) 2.254 0.0439 0.0439
Mental retardation All phenotypes (CASK, PLK2) 5.112 0.0289 0.0862
All phenotypes (CASK, CDK9) 4.817 0.0355 0.0862
All phenotypes (PPP2R1A, PPP2R5C) 3.392 0.0128 0.0862
All phenotypes (PPP2R1A, CDC6) 2.676 0.033 0.0862
All phenotypes (PPP2R1A, PPP2R3B) 2.676 0.033 0.0862
All phenotypes (PPP2R1A, PPP2R5A) 2.615 0.0358 0.0862
All phenotypes (PPP2R1A, PPP2R5D) 2.615 0.0358 0.0862
All phenotypes (PPP2R1A, PPP2R2A) 2.556 0.0386 0.0862
All phenotypes (PPP2R1A, PPP2R5E) 2.472 0.0431 0.0862
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] (CASK, PLK2) 5.112 0.0289 0.0532
Mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) [MIM:300749] (CASK, CDK9) 4.817 0.0355 0.0532
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5C) 3.392 0.0128 0.0492
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, CDC6) 2.676 0.033 0.0492
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R3B) 2.676 0.033 0.0492
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5A) 2.615 0.0358 0.0492
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5D) 2.615 0.0358 0.0492
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R2A) 2.556 0.0386 0.0492
Mental retardation, autosomal dominant 36 (MRD36) [MIM:616362] (PPP2R1A, PPP2R5E) 2.472 0.0431 0.0492
Microphthalmia Microphthalmia, syndromic, 12 (MCOPS12) [MIM:615524] (RARB, RXRG) 2.727 0.0228 0.0228
Multiple neoplasia All phenotypes (MEN1, JUND) 1.184 0.00448 0.0313
All phenotypes (MEN1, KMT2A) 0.523 0.0455 0.159
Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] (MEN1, JUND) 1.184 0.00448 0.0179
Familial multiple endocrine neoplasia type I (MEN1) [MIM:131100] (MEN1, KMT2A) 0.523 0.0455 0.0911
Multiple self-healing squamous epithelioma Multiple self-healing squamous epithelioma (MSSE) [MIM:132800] (TGFBR1, TGFBR2) 3.184 0.0169 0.0337
Multiple synostoses syndrome All phenotypes (GDF5, NOG) 1.257 0.0219 0.153
Multiple synostoses syndrome 2 (SYNS2) [MIM:610017] (GDF5, NOG) 1.257 0.0219 0.11
Myopathy All phenotypes (CRYAB, HSPB8) 3.203 0.0118 0.235
All phenotypes (CRYAB, HSPB2) 2.281 0.0423 0.235
All phenotypes (HRAS, NF1) 1.874 0.029 0.235
All phenotypes (HRAS, RASA1) 1.833 0.0314 0.235
All phenotypes (HRAS, RIN1) 1.833 0.0314 0.235
All phenotypes (HRAS, RASGRF1) 1.610 0.0484 0.235
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, NF1) 1.874 0.029 0.176
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RASA1) 1.833 0.0314 0.176
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RIN1) 1.833 0.0314 0.176
Congenital myopathy with excess of muscle spindles (CMEMS) [MIM:218040] (HRAS, RASGRF1) 1.610 0.0484 0.176
Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] (CRYAB, HSPB8) 3.203 0.0118 0.0589
Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] (CRYAB, HSPB2) 2.281 0.0423 0.106
Neu-Laxova syndrome Neu-Laxova syndrome 1 (NLS1) [MIM:256520] (PHGDH, PHGDH) 2.986 0.0159 0.0159
Neuroblastoma Neuroblastoma 3 (NBLST3) [MIM:613014] (ALK, ALK) 1.136 0.00879 0.00879
Neurofibromatosis All phenotypes (HRAS, NF1) 2.973 4.25e-7 1.28e-6
Neurofibromatosis 1 (NF1) [MIM:162200] (HRAS, NF1) 2.973 4.25e-7 8.51e-7
Neurofibromatosis-Noonan syndrome Neurofibromatosis-Noonan syndrome (NFNS) [MIM:601321] (HRAS, NF1) 3.890 2.07e-5 2.07e-5
Neutropenia All phenotypes (SERPINA1, ELANE) 1.881 0.00585 0.0585
Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700] (SERPINA1, ELANE) 1.881 0.00585 0.0234
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 2.07e-6
All phenotypes (RAF1, YWHAZ) 3.453 1.07e-6 4.11e-6
All phenotypes (RAF1, YWHAB) 3.394 1.7e-7 2.07e-6
All phenotypes (RAF1, YWHAG) 3.283 3.07e-7 2.07e-6
All phenotypes (RAF1, YWHAQ) 3.283 3.07e-7 2.07e-6
All phenotypes (RAF1, YWHAE) 3.131 6.87e-7 3.71e-6
All phenotypes (RAF1, YWHAH) 3.084 8.83e-7 3.97e-6
All phenotypes (DIRAS3, KRAS) 2.652 0.00042 0.00126
All phenotypes (KRAS, ZDHHC17) 2.500 0.0127 0.0285
All phenotypes (MLLT4, RIT1) 2.475 0.0429 0.0773
All phenotypes (ERBB2, PTPN11) 2.401 0.00234 0.00631
All phenotypes (MET, PTPN11) 1.964 0.041 0.0773
All phenotypes (GRB2, PTPN11) 1.937 2.68e-5 9.05e-5
All phenotypes (KRAS, RAF1) 1.763 0.0493 0.0783
All phenotypes (KRAS, RALGDS) 1.763 0.0493 0.0783
All phenotypes (CRKL, PTPN11) 1.149 0.0229 0.0475
All phenotypes (PTPN11, PTPN11) 0.992 0.00493 0.0121
Noonan syndrome 1 (NS1) [MIM:163950] (ERBB2, PTPN11) 2.401 0.00234 0.00702
Noonan syndrome 1 (NS1) [MIM:163950] (MET, PTPN11) 1.964 0.041 0.0492
Noonan syndrome 1 (NS1) [MIM:163950] (GRB2, PTPN11) 1.937 2.68e-5 0.000161
Noonan syndrome 1 (NS1) [MIM:163950] (CRKL, PTPN11) 1.149 0.0229 0.0343
Noonan syndrome 1 (NS1) [MIM:163950] (PTPN11, PTPN11) 0.992 0.00493 0.00986
Noonan syndrome 3 (NS3) [MIM:609942] (DIRAS3, KRAS) 2.652 0.00042 0.0021
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, ZDHHC17) 2.500 0.0127 0.0317
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, RAF1) 1.763 0.0493 0.0616
Noonan syndrome 3 (NS3) [MIM:609942] (KRAS, RALGDS) 1.763 0.0493 0.0616
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, SFN) 3.939 1.1e-7 5.37e-7
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAZ) 3.453 1.07e-6 1.07e-6
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAB) 3.394 1.7e-7 5.37e-7
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAG) 3.283 3.07e-7 5.37e-7
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAQ) 3.283 3.07e-7 5.37e-7
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAE) 3.131 6.87e-7 9.62e-7
Noonan syndrome 5 (NS5) [MIM:611553] (RAF1, YWHAH) 3.084 8.83e-7 1.03e-6
Noonan syndrome 8 (NS8) [MIM:615355] (MLLT4, RIT1) 2.475 0.0429 0.0528
Obesity Obesity, hyperphagia, and developmental delay (OBHD) [MIM:613886] (NTRK2, SH2B1) 5.624 0.0203 0.0203
Osteogenesis imperfecta All phenotypes (COL3A1, SPARC) 3.777 0.00532 0.0479
All phenotypes (COL1A1, COL9A3) 1.058 0.0292 0.131
Osteogenesis imperfecta 17 (OI17) [MIM:616507] (COL3A1, SPARC) 3.777 0.00532 0.00532
Osteogenesis imperfecta 1 (OI1) [MIM:166200] (COL1A1, FN1) 2.592 0.00844 0.0506
Osteogenesis imperfecta 2 (OI2) [MIM:166210] (COL1A1, COL9A3) 1.465 0.015 0.09
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
Peroxisome biogenesis disorder Peroxisome biogenesis disorder complementation group 4 (PBD-CG4) [MIM:614862] (PEX1, PEX6) 2.078 0.0194 0.0194
Pfeiffer syndrome Pfeiffer syndrome (PS) [MIM:101600] (FGF1, FGFR1) 4.342 0.0493 0.245
Pfeiffer syndrome (PS) [MIM:101600] (FGF19, FGFR1) 4.342 0.0493 0.245
Pheochromocytoma Pheochromocytoma (PCC) [MIM:171300] (EGFR, RET) 4.372 0.0483 0.241
Piebaldism Piebald trait (PBT) [MIM:172800] (KIT, KIT) 1.320 0.0329 0.231
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 0.213
Pontocerebellar hypoplasia 1B (PCH1B) [MIM:614678] (EXOSC9, EXOSC3) 2.423 0.0459 0.0918
Pseudohypoaldosteronism All phenotypes (KLHL2, WNK4) 4.853 4.14e-5 0.000145
All phenotypes (WNK4, KLHL3) 2.854 2.61e-6 1.83e-5
Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] (WNK4, KLHL3) 5.005 3.02e-5 4.14e-5
Pseudohypoaldosteronism 2B (PHA2B) [MIM:614491] (KLHL2, WNK4) 4.853 4.14e-5 4.14e-5
Pseudohypoaldosteronism 2D (PHA2D) [MIM:614495] (WNK4, KLHL3) 2.277 0.00125 0.00499
Pseudohypoparathyroidism Pseudohypoparathyroidism 1A (PHP1A) [MIM:103580] (GNAS, ADCY2) 2.548 0.0418 0.0836
Pseudohypoparathyroidism 1C (PHP1C) [MIM:612462] (ADORA2A, GNAS) 4.133 0.00325 0.0065
Pyropoikilocytosis Hereditary pyropoikilocytosis (HPP) [MIM:266140] (SPTA1, SPTB) 4.716 0.0377 0.0754
Rabson-Mendenhall syndrome Rabson-Mendenhall syndrome (RMS) [MIM:262190] (INSR, GRB10) 3.237 0.0177 0.0672
Rabson-Mendenhall syndrome (RMS) [MIM:262190] (INSR, GRB14) 3.237 0.0177 0.0672
Rabson-Mendenhall syndrome (RMS) [MIM:262190] (INSR, CSK) 2.967 0.0252 0.0672
Renal cell carcinoma All phenotypes (MET, SH2B3) 5.057 2.78e-7 1.48e-6
All phenotypes (MET, SH2B1) 4.794 6.79e-7 2.72e-6
All phenotypes (SH2B2, MET) 4.472 0.000307 0.000818
All phenotypes (MET, TXK) 2.765 1.55e-7 1.48e-6
All phenotypes (MET, TEC) 2.707 2.27e-7 1.48e-6
All phenotypes (MET, SRC) 2.631 0.0032 0.00639
All phenotypes (MET, BTK) 2.389 0.00015 0.000481
All phenotypes (MET, ITK) 2.313 0.0023 0.00526
All phenotypes (MET, KDR) 2.080 0.0123 0.0219
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SH2B3) 5.057 2.78e-7 1.39e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SH2B1) 4.794 6.79e-7 2.55e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (SH2B2, MET) 4.472 0.000307 0.000767
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, TXK) 2.765 1.55e-7 1.39e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, TEC) 2.707 2.27e-7 1.39e-6
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, SRC) 2.631 0.0032 0.00599
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, BTK) 2.389 0.00015 0.000451
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, ITK) 2.313 0.0023 0.00494
Renal cell carcinoma papillary (RCCP) [MIM:605074] (MET, KDR) 2.080 0.0123 0.0205
Retinitis pigmentosa All phenotypes (SNRNP200, PRPF8) 1.986 0.00684 0.041
Retinitis pigmentosa 13 (RP13) [MIM:600059] (SNRNP200, PRPF8) 1.838 0.0167 0.0167
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, KCTD15) 1.057 0.0118 0.0235
Scalp-ear-nipple syndrome (SENS) [MIM:181270] (KCTD1, KCTD1) 0.821 0.0332 0.0332
Sialuria Sialuria (SIALURIA) [MIM:269921] (GNE, GNE) 2.356 0.00745 0.00745
Spinal muscular atrophy All phenotypes (SMN1, SMN1) 2.078 0.00451 0.018
Spinal muscular atrophy 1 (SMA1) [MIM:253300] (SMN1, SMN1) 2.564 0.0382 0.0382
Spinal muscular atrophy 2 (SMA2) [MIM:253550] (SMN1, SMN1) 2.564 0.0382 0.0764
Spinal muscular atrophy 3 (SMA3) [MIM:253400] (SMN1, SMN1) 2.149 0.0245 0.049
Split-hand/foot malformation Split-hand/foot malformation 4 (SHFM4) [MIM:605289] (PPP1R13L, TP63) 3.388 0.0116 0.0204
Split-hand/foot malformation 4 (SHFM4) [MIM:605289] (TP53BP2, TP63) 3.273 0.0136 0.0204
Symphalangism All phenotypes (BMP2, NOG) 1.932 0.00147 0.00399
All phenotypes (BMP7, NOG) 1.892 0.00171 0.00399
All phenotypes (GDF5, NOG) 1.650 0.000689 0.00399
Symphalangism, proximal 1A (SYM1A) [MIM:185800] (GDF5, NOG) 1.972 0.00126 0.00228
Symphalangism, proximal 1A (SYM1A) [MIM:185800] (BMP2, NOG) 1.932 0.00147 0.00228
Symphalangism, proximal 1A (SYM1A) [MIM:185800] (BMP7, NOG) 1.892 0.00171 0.00228
Tarsal-carpal coalition syndrome Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (GDF5, NOG) 2.557 0.0049 0.00579
Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (BMP2, NOG) 2.517 0.00534 0.00579
Tarsal-carpal coalition syndrome (TCC) [MIM:186570] (BMP7, NOG) 2.477 0.00579 0.00579
Thanatophoric dysplasia All phenotypes (FGFR3, FGFR3) 2.504 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 0.0437
Trichothiodystrophy 1, photosensitive (TTD1) [MIM:601675] (ERCC2, GTF2H2C) 2.569 0.0437 0.0437
Verheij syndrome Verheij syndrome (VRJS) [MIM:615583] (HNRNPC, PUF60) 5.555 0.0213 0.0274
Verheij syndrome (VRJS) [MIM:615583] (RNPS1, PUF60) 5.192 0.0274 0.0274
Von Hippel-Lindau disease Von Hippel-Lindau disease (VHLD) [MIM:193300] (VHL, TCEB1) 0.695 0.00151 0.00605
Von Willebrand disease All phenotypes (VWF, GP1BA) 1.419 0.0139 0.0417
Pseudo-von Willebrand disease (VWDP) [MIM:177820] (VWF, GP1BA) 2.817 0.00286 0.00572
Waardenburg syndrome Waardenburg syndrome 1 (WS1) [MIM:193500] (POU3F2, PAX3) 1.202 0.0375 0.075
Weaver syndrome Weaver syndrome (WVS) [MIM:277590] (EZH2, JARID2) 4.620 0.0403 0.0805
Zimmermann-Laband syndrome Zimmermann-Laband syndrome 1 (ZLS1) [MIM:135500] (KCNH1, KCNF1) 2.616 0.00175 0.0035

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