Query disease name: 
KEGG (124 diseases) OMIM (215 diseases)
IndexDisease IDDescriptionInvolved kinasesSource
1H00001Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia)ABL1 BCR KEGG
1H00003Acute myeloid leukemia (AML)FLT3 KIT KEGG
1H00004Chronic myeloid leukemia (CML)ABL1 BCR KEGG
1H00005Chronic lymphocytic leukemia (CLL)ATM KEGG
1H00010Multiple myelomaFGFR3 KEGG
1H00012Polycythemia veraJAK2 KEGG
1H00014Non-small cell lung cancerALK ROS1 KEGG
1H00015Malignant pleural mesotheliomaIGF1R KEGG
1H00016Oral cancerEGFR KEGG
1H00017Esophageal cancerEGFR KEGG
1H00018Gastric cancerEGFR ERBB2 FGFR2 MET KEGG
1H00019Pancreatic cancerERBB2 STK11 KEGG
1H00020Colorectal cancerTGFBR2 KEGG
1H00021Renal cell carcinomaMET KEGG
1H00022Bladder cancerDAPK1 EGFR ERBB2 FGFR3 KEGG
1H00026Endometrial CancerERBB2 KEGG
1H00027Ovarian cancerAKT2 ERBB2 KEGG
1H00028ChoriocarcinomaCSF1R EGFR ERBB2 KEGG
1H00030Cervical cancerCDK4 EGFR ERBB2 KEGG
1H00031Breast cancerERBB2 KEGG
1H00032Thyroid cancerBRAF NTRK1 RET KEGG
1H00037Alveolar rhabdomyosarcomaATR KEGG
1H00038Malignant melanomaBRAF CDK4 KEGG
1H00042GliomaCDK4 EGFR PDGFRA PDGFRB KEGG
1H00043NeuroblastomaNTRK1 NTRK2 NTRK3 KEGG
1H00046CholangiocarcinomaERBB2 MET KEGG
1H00050Synovial sarcomaIGF1R KEGG
1H00055Laryngeal cancerEGFR KEGG
1H00063Spinocerebellar ataxia (SCA)CABC1 PRKCG TTBK2 KEGG
1H00064Ataxia telangiectasia (AT)ATM KEGG
1H00066Lewy body dementia (LBD)LRRK2 KEGG
1H00069Glycogen storage diseases (GSD)PHKG2 KEGG
1H00085AgammaglobulinemiasBTK KEGG
1H00091T-B+Severe combined immunodeficiencies (SCIDs)JAK3 KEGG
1H00093Combined immunodeficiencies (CIDs)LCK ZAP70 KEGG
1H00170PiebaldismKIT KEGG
1H00243Hyperkalemic distal renal tubular acidosis (RTA type 4)WNK1 WNK4 KEGG
1H00254Pituitary Dwarfism (PD)BTK KEGG
1H00255Hypogonadotropic hypogonadismFGFR1 KEGG
1H00264Charcot-Marie-Tooth disease (CMT)HSPB8 KEGG
1H00292Hypertrophic cardiomyopathy (HCM)TTN KEGG
1H00294Dilated cardiomyopathy (DCM)TTN KEGG
1H00408Type I diabetes mellitusERBB3 PRKCQ KEGG
1H00410Maturity onset diabetes of the young (MODY)BLK KEGG
1H00420Familial partial lipodystrophy (FPL)AKT2 KEGG
1H00430Fibrodysplasia ossificans progressiva (FOP)ACVR1 KEGG
1H00443Osteoglophonic dysplasia (OD)FGFR1 KEGG
1H00470Acromesomelic dysplasia, Maroteaux typeNPR2 KEGG
1H00478Prader-Willi and Angelman syndromesCDKL5 KEGG
1H00480Non-syndromic X-linked mental retardationPAK3 RPS6KA3 KEGG
1H00481Cone-rod dystrophy and cone dystrophyGUCY2D KEGG
1H00505FGFR3-related short limb skeletal dysplasiasFGFR3 KEGG
1H00512Permanent neonatal diabetes mellitus (PNDM)EIF2AK3 KEGG
1H00523Noonan syndrome and related disordersARAF BRAF MAP2K1 MAP2K2 KEGG
1H00527Retinitis pigmentosa (RP)MERTK KEGG
1H00531Venous malformationsTEK KEGG
1H00533Hereditary hemorrhagic telangiectasia (HHT)ACVRL1 KEGG
1H00535LymphedemasFLT4 KEGG
1H00537Nephronophthisis-medullary cystic kidney diseaseNEK8 KEGG
1H00539PTEN hamartoma tumor syndrome (PHTS)AKT1 KEGG
1H00568Myotonic dystrophy (DM)DMPK KEGG
1H00574Coffin-Lowry syndrome (CLS)RPS6KA3 KEGG
1H00594Distal muscular dystrophiesTTN KEGG
1H00605Deafness, autosomal recessiveMYO3A KEGG
1H00606Early infantile epileptic encephalopathyCDKL5 MAPK10 KEGG
1H00666Peutz-Jeghers syndromeSTK11 KEGG
1H00719LeprechaunismINSR KEGG
1H00770Congenital myasthenic syndromeMUSK KEGG
1H00787Congenital stationary night blindness (CSNB)GRK1 KEGG
1H00800Loeys-Dietz syndrome (LDS)TGFBR1 TGFBR2 KEGG
1H00801Familial thoracic aortic aneurysm and dissection (TAAD)MYLK TGFBR1 TGFBR2 KEGG
1H00822Renal agenesis and Renal adysplasiaRET KEGG
1H00837Leber congenital amaurosis (LCR)GUCY2D KEGG
1H00848Ataxia with ocular apraxia (AOA)ATM KEGG
1H00856Distal hereditary motor neuropathies (dHMN)HSPB8 KEGG
1H00881Li-Fraumeni syndromeCHEK2 KEGG
1H00894FG syndrome (FGS)CASK KEGG
1H00897Pontocerebellar hypoplasiaVRK1 KEGG
1H00910Hirschsprung disease (HD)RET KEGG
1H00916Congenital central hypoventilation syndrome (CCHS)RET KEGG
1H00942Rabson-Mendenhall syndromeINSR KEGG
1H00978Thrombocytopenia (THC)MASTL KEGG
1H00992Seckel syndromeATR KEGG
1H00997CATSHL syndromeFGFR3 KEGG
1H00999Coenzyme Q10 deficiencyCABC1 KEGG
1H01023Juvenile polyposis syndromeBMPR1A KEGG
1H01202CataractEPHA2 KEGG
1H01207TrigonocephalyFGFR1 KEGG
1H01210HypomagnesemiaTRPM6 KEGG
1H01228Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN)INSR KEGG
2hsa04930Type II diabetes mellitusFRAP1 IKBKB INSR MAPK1 MAPK10 
MAPK3 MAPK8 MAPK9 PRKCD PRKCE 
PRKCZ 
KEGG
2hsa05014Amyotrophic lateral sclerosis (ALS)MAP2K3 MAP2K6 MAP3K5 MAPK11 MAPK12 
MAPK13 MAPK14 
KEGG
2hsa05020Prion diseasesFYN MAP2K1 MAP2K2 MAPK1 MAPK3 
PRKACA PRKACB PRKACG PRKX 
KEGG
2hsa05030Cocaine addictionCDK5 PRKACA PRKACB PRKACG PRKX 
KEGG
2hsa05034AlcoholismARAF BRAF CAMK4 CAMKK1 CAMKK2 
MAP2K1 MAPK1 MAPK3 NTRK2 PRKACA 
RAF1 
KEGG
2hsa05110Vibrio cholerae infectionPRKACA PRKACB PRKACG PRKCA PRKCB 
PRKCG PRKX 
KEGG
2hsa05120Epithelial cell signaling in Helicobacter pylori infectionCHUK CSK EGFR IKBKB LYN 
MAP2K4 MAP3K14 MAPK10 MAPK11 MAPK12 
MAPK13 MAPK14 MAPK8 MAPK9 MET 
PAK1 SRC 
KEGG
2hsa05130Pathogenic Escherichia coli infectionABL1 FYN PRKCA ROCK1 ROCK2 
KEGG
2hsa05131ShigellosisABL1 CHUK IKBKB MAPK1 MAPK10 
MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 
MAPK8 MAPK9 RIPK2 ROCK1 ROCK2 
SRC 
KEGG
2hsa05132Salmonella infectionMAPK1 MAPK10 MAPK11 MAPK12 MAPK13 
MAPK14 MAPK3 MAPK8 MAPK9 PKN1 
PKN2 PKN3 ROCK1 ROCK2 
KEGG
2hsa05133PertussisIRAK1 IRAK4 MAPK1 MAPK10 MAPK11 
MAPK12 MAPK13 MAPK14 MAPK3 MAPK8 
MAPK9 
KEGG
2hsa05134LegionellosisCLK1 KEGG
2hsa05140LeishmaniasisIRAK1 IRAK4 JAK1 JAK2 MAP3K7 
MAPK1 MAPK11 MAPK12 MAPK13 MAPK14 
MAPK3 PRKCB 
KEGG
2hsa05142Chagas disease (American trypanosomiasis)AKT1 AKT2 AKT3 CHUK IKBKB 
IRAK1 IRAK4 MAP2K4 MAPK1 MAPK10 
MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 
MAPK8 MAPK9 TGFBR1 TGFBR2 
KEGG
2hsa05143African trypanosomiasisPRKCA PRKCB PRKCG KEGG
2hsa05144MalariaMET KEGG
2hsa05145ToxoplasmosisAKT1 AKT2 AKT3 CHUK IKBKB 
IRAK1 IRAK4 JAK1 JAK2 MAP2K3 
MAP2K6 MAP3K7 MAPK1 MAPK10 MAPK11 
MAPK12 MAPK13 MAPK14 MAPK3 MAPK8 
MAPK9 PDK1 TYK2 
KEGG
2hsa05146AmoebiasisPRKACA PRKACB PRKACG PRKCA PRKCB 
PRKCG PRKX PTK2 
KEGG
2hsa05152TuberculosisAKT1 AKT2 AKT3 CAMK2A CAMK2B 
CAMK2D CAMK2G IRAK1 IRAK2 IRAK4 
JAK1 JAK2 KSR1 MAPK1 MAPK10 
MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 
MAPK8 MAPK9 PLK3 RAF1 RIPK2 
SRC SYK 
KEGG
2hsa05160Hepatitis CAKT1 AKT2 AKT3 ARAF BRAF 
CHUK EGFR EIF2AK1 EIF2AK2 EIF2AK3 
EIF2AK4 GSK3B IKBKB IKBKE JAK1 
MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 
MAPK14 MAPK3 MAPK8 MAPK9 PDK1 
RAF1 RIPK1 RNASEL TBK1 TYK2 
KEGG
2hsa05162MeaslesAKT1 AKT2 AKT3 CDK2 CDK4 
CDK6 CHUK CSNK2A1 CSNK2A2 EIF2AK1 
EIF2AK2 EIF2AK3 EIF2AK4 FYN GSK3B 
IKBKE IRAK1 IRAK4 JAK1 JAK2 
JAK3 MAP3K7 PRKCQ TBK1 TYK2 
KEGG
2hsa05164Influenza AAKT1 AKT2 AKT3 EIF2AK1 EIF2AK2 
EIF2AK3 EIF2AK4 GSK3B IKBKB IKBKE 
IRAK4 JAK1 JAK2 MAP2K1 MAP2K2 
MAP2K3 MAP2K4 MAP2K6 MAP2K7 MAPK1 
MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 
MAPK3 MAPK8 MAPK9 PRKCA PRKCB 
RAF1 RNASEL TBK1 TYK2 
KEGG
2hsa05168Herpes simplex infectionCDC2 CDK2 CHUK CSNK2A1 CSNK2A2 
EIF2AK1 EIF2AK2 EIF2AK3 EIF2AK4 IKBKB 
IKBKE JAK1 JAK2 MAP3K7 MAPK10 
MAPK8 MAPK9 RNASEL SRPK1 TBK1 
TYK2 
KEGG
2hsa05169Epstein-Barr virus infectionAKT1 AKT2 AKT3 CDC2 CDK2 
CHUK CSNK2A1 CSNK2A2 EIF2AK1 EIF2AK2 
EIF2AK3 EIF2AK4 FGR GSK3B IKBKB 
IRAK1 JAK1 JAK3 LYN MAP2K3 
MAP2K4 MAP2K6 MAP2K7 MAP3K14 MAP3K7 
MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 
MAPK8 MAPK9 PRKACA PRKACB PRKACG 
PRKX RIPK1 SYK TBK1 TYK2 
KEGG
2hsa05215Prostate cancerAKT1 AKT2 AKT3 ARAF BRAF 
CDK2 CHUK EGFR ERBB2 FGFR1 
FGFR2 FRAP1 GSK3B IGF1R IKBKB 
INSRR MAP2K1 MAP2K2 MAPK1 MAPK3 
PDGFRA PDGFRB PDPK1 RAF1 
KEGG
2hsa05217Basal cell carcinomaGSK3B STK36 KEGG
2hsa05218MelanomaAKT1 AKT2 AKT3 ARAF BRAF 
CDK4 CDK6 EGFR FGFR1 IGF1R 
MAP2K1 MAP2K2 MAPK1 MAPK3 MET 
PDGFRA PDGFRB RAF1 
KEGG
2hsa05220Chronic myeloid leukemiaAKT1 AKT2 AKT3 ARAF BCR 
BRAF CDK4 CDK6 CHUK IKBKB 
MAP2K1 MAP2K2 MAPK1 MAPK3 RAF1 
TGFBR1 TGFBR2 
KEGG
2hsa05221Acute myeloid leukemiaAKT1 AKT2 AKT3 ARAF BRAF 
CHUK FLT3 FRAP1 IKBKB KIT 
MAP2K1 MAP2K2 MAPK1 MAPK3 PIM1 
PIM2 RAF1 RPS6KB1 RPS6KB2 
KEGG
2hsa05222Small cell lung cancerAKT1 AKT2 AKT3 CDK2 CDK4 
CDK6 CHUK IKBKB PTK2 
KEGG
2hsa05323Rheumatoid arthritisFLT1 TEK KEGG
2hsa05410Hypertrophic cardiomyopathy (HCM)PRKAA1 PRKAA2 TTN KEGG
2hsa05414Dilated cardiomyopathyPRKACA PRKACB PRKACG PRKX TTN 
KEGG
2hsa05416Viral myocarditisABL1 ABL2 FYN KEGG
4 OMIM
361376246XY sex reversal 6MAP3K1 OMIM
3100800AchondroplasiaFGFR3 OMIM
3602875Acromesomelic dysplasia, Maroteaux typeNPR2 OMIM
3211980Adenocarcinoma of lung, response to tyrosine kinase inhibitor inEGFR OMIM
3211980Adenocarcinoma of lung, somaticBRAF ERBB2 OMIM
3307200Agammaglobulinemia and isolated hormone deficiencyBTK OMIM
3300755Agammaglobulinemia, X-linked 1BTK OMIM
3105830Angelman syndrome-likeCDKL5 OMIM
3207410Antley-Bixler syndrome without genital anomalies or disordered steroidogenesisFGFR2 OMIM
3613780Aortic aneurysm, familial thoracic 7MYLK OMIM
3101200Apert syndromeFGFR2 OMIM
3208900Ataxia-telangiectasiaATM OMIM
3123790Beare-Stevenson cutis gyrata syndromeFGFR2 OMIM
3614592Bent bone dysplasia syndromeFGFR2 OMIM
3109800Bladder cancer, somaticFGFR3 OMIM
3112600Brachydactyly, type A2BMPR1B OMIM
3113000Brachydactyly, type B1ROR2 OMIM
3114480Breast cancer, somaticAKT1 OMIM
3115150Cardiofaciocutaneous syndromeBRAF MAP2K1 MAP2K2 OMIM
3604145Cardiomyopathy, dilated, 1GTTN OMIM
3613765Cardiomyopathy, familial hypertrophic, 9TTN OMIM
3192600Cardiomyopathy, hypertrophic, midventricular, digenicMYLK2 OMIM
3613020Cataract, age-related cortical, 2EPHA2 OMIM
3116600Cataract, posterior polar, 1EPHA2 OMIM
3610474CATSHL syndromeFGFR3 OMIM
3209880Central hypoventilation syndrome, congenitalRET OMIM
3603956Cervical cancer, somaticFGFR3 OMIM
3608673Charcot-Marie-Tooth disease, axonal, type 2LHSPB8 OMIM
3609441Chrondrodysplasia, acromesomelic, with genital anomaliesBMPR1B OMIM
4Cirrhosis due to liver phosphorylase kinase deficiencyPHKG2 OMIM
3613630Cocoon syndromeCHUK OMIM
3612016Coenzyme Q10 deficiency, primary, 4CABC1 OMIM
3303600Coffin-Lowry syndromeRPS6KA3 OMIM
4Colon cancer, advancedSRC OMIM
3114500Colorectal cancerBUB1B OMIM
4Colorectal cancer with chromosomal instabilityBUB1 OMIM
3614331Colorectal cancer, hereditary nonpolyposis, type 6TGFBR2 OMIM
4Colorectal cancer, somaticBRAF AKT1 FGFR3 OMIM
3601777Cone-rod dystrophy 6GUCY2D OMIM
4Craniofacial-skeletal-dermatologic dysplasiaFGFR2 OMIM
4Craniosynostosis, nonspecificFGFR2 OMIM
3123500Crouzon syndromeFGFR2 OMIM
3612247Crouzon syndrome with acanthosis nigricansFGFR3 OMIM
3614564Cutaneous telangiectasia and cancer syndrome, familialATR OMIM
3607101Deafness, autosomal recessive 30MYO3A OMIM
3610549Diabetes mellitus, insulin-resistant, with acanthosis nigricansINSR OMIM
3125853Diabetes mellitus, type IIAKT2 OMIM
3614616Diarrhea 6GUCY2C OMIM
4Dopamine receptor D2, reduced brain density ofANKK1 OMIM
3314250Dystonia-Parkinsonism, X-linkedTAF1 OMIM
3612651Endocrine-cerebroosteodysplasiaICK OMIM
3300672Epileptic encephalopathy, early infantile, 2CDKL5 OMIM
3606369Epileptic encephalopathy, Lennox-Gastaut typeMAPK10 OMIM
3133239Esophageal cancer, somaticTGFBR2 OMIM
3300422FG syndrome 4CASK OMIM
3135100Fibrodysplasia ossificans progressivaACVR1 OMIM
3137215Gastric cancer, somaticERBB2 FGFR2 OMIM
3606764Gastrointestinal stromal tumor, somaticKIT PDGFRA OMIM
3273300Germ cell tumorsKIT OMIM
3137800Glioblastoma, somaticERBB2 OMIM
3613027Glycogen storage disease IXcPHKG2 OMIM
3602089Hemangioma, capillary infantile, somaticFLT4 KDR OMIM
3114550Hepatocellular carcinoma, childhood typeMET OMIM
3613751Heterotaxy, visceral, 4, autosomalACVR2B OMIM
3607685Hypereosinophilic syndrome, idiopathic, resistant to imatinibPDGFRA OMIM
3609968Hyperinsulinemic hypoglycemia, familial, 5INSR OMIM
3146000HypochondroplasiaFGFR3 OMIM
3146110Hypogonadotropic hypogonadismFGFR1 OMIM
3240900Hypoinsulinemic hypoglycemia with hemihypertrophyAKT2 OMIM
3602014Hypomagnesemia 1, intestinalTRPM6 OMIM
3256800Insensitivity to pain, congenital, with anhidrosisNTRK1 OMIM
3270450Insulin-like growth factor I, resistance toIGF1R OMIM
3610799Invasive pneumococcal disease, recurrent isolated, 1IRAK4 OMIM
3607676IRAK4 deficiencyIRAK4 OMIM
3123150Jackson-Weiss syndromeFGFR1 FGFR2 OMIM
3174900Juvenile polyposis syndrome, infantile formBMPR1A OMIM
3147950Kallmann syndrome 2FGFR1 OMIM
3149730LADD syndromeFGFR2 FGFR3 OMIM
3204000Leber congenital amaurosis 1GUCY2D OMIM
3611554LEOPARD syndrome 2RAF1 OMIM
3613707LEOPARD syndrome 3BRAF OMIM
3246200LeprechaunismINSR OMIM
3607598Lethal congenital contractural syndrome 2ERBB3 OMIM
4Leukemia, acute lymphoblasticFLT3 OMIM
3613065Leukemia, acute lymphocyticBCR OMIM
3601626Leukemia, acute myelogenousJAK2 OMIM
3601626Leukemia, acute myeloidFLT3 KIT OMIM
4Leukemia, acute myeloid, reduced survival inFLT3 OMIM
4Leukemia, acute myeloid, with eosinophiliaABL2 OMIM
3608232Leukemia, chronic myeloidBCR OMIM
4Leukemia, Philadelphia chromosome-positive, resistant to imatinibABL1 OMIM
3221820Leukoencephalopathy, diffuse hereditary, with spheroidsCSF1R OMIM
3609265Li-Fraumeni syndromeCHEK2 OMIM
3609192Loeys-Dietz syndrome, type 1ATGFBR1 OMIM
3610168Loeys-Dietz syndrome, type 1BTGFBR2 OMIM
3608967Loeys-Dietz syndrome, type 2ATGFBR1 OMIM
3610380Loeys-Dietz syndrome, type 2BTGFBR2 OMIM
3211980Lung cancer, somaticMAP3K8 OMIM
3153100Lymphedema, hereditary IFLT4 OMIM
4Lymphoma, B-cell non-Hodgkin, somaticATM OMIM
4Lymphoma, mantle cellATM OMIM
3613011Lymphoproliferative syndrome, EBV-associated, autosomal, 1ITK OMIM
4Mast cell leukemiaKIT OMIM
4Mastocytosis with associated hematologic disorderKIT OMIM
3613375Maturity-onset diabetes of the young, type 11BLK OMIM
3614665Meconium ileusGUCY2C OMIM
3155240Medullary thyroid carcinomaRET OMIM
3155240Medullary thyroid carcinoma, familialNTRK1 OMIM
4Melanoma, malignant sporadicSTK11 OMIM
4Melanoma, malignant, somaticBRAF OMIM
3300749Mental retardation and microcephaly with pontine and cerebellar hypoplasiaCASK OMIM
3614104Mental retardation, autosomal dominant 7DYRK1A OMIM
3300422Mental retardation, with or without nystagmusCASK OMIM
3300844Mental retardation, X-linked 19RPS6KA3 OMIM
3300558Mental retardation, X-linked 30/47PAK3 OMIM
3257300Mosaic variegated aneuploidy syndromeBUB1B OMIM
3602849Muenke syndromeFGFR3 OMIM
3171400Multiple endocrine neoplasia IIARET OMIM
3162300Multiple endocrine neoplasia IIBRET OMIM
3608807Muscular dystrophy, limb-girdle, type 2JTTN OMIM
3608931Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiencyMUSK OMIM
3254450Myelofibrosis, idiopathicJAK2 OMIM
4Myelomonocytic leukemia, chronicPDGFRB OMIM
3131440Myeloproliferative disorder with eosinophiliaPDGFRB OMIM
4Myeloproliferative disorder with erythrocytosisJAK2 OMIM
3611705Myopathy, early-onset, with fatal cardiomyopathyTTN OMIM
3603689Myopathy, proximal, with early respiratory muscle involvementTTN OMIM
3160900Myotonic dystrophy 1DMPK OMIM
3613824Nephronophthisis 9NEK8 OMIM
3158590Neuropathy, distal hereditary motor, type IIAHSPB8 OMIM
3201300Neuropathy, hereditary sensory and autonomic, type IIWNK1 OMIM
3162900Nevus, keratinocytic, nonepidermolyticFGFR3 OMIM
3211980Non-small cell lung cancer, response to tyrosine kinase inhibitor inEGFR OMIM
4Non-small cell lung cancer, somaticBRAF OMIM
3611553Noonan syndrome 5RAF1 OMIM
3613706Noonan syndrome 7BRAF OMIM
3613886Obesity, hyperphagia, and developmental delayNTRK2 OMIM
3613411Oguchi disease-2GRK1 OMIM
3166250Osteoglophonic dysplasiaFGFR1 OMIM
3259500Osteosarcoma, somaticCHEK2 OMIM
3167000Ovarian cancer, somaticAKT1 OMIM
4Ovarian cancer, somatic,ERBB2 OMIM
4Pancreatic cancer, somaticACVR1B OMIM
4Pancreatic cancer, sporadicSTK11 OMIM
3605909Parkinson disease 6, early onsetPINK1 OMIM
3607060Parkinson disease 8LRRK2 OMIM
3261550Persistent Mullerian duct syndrome, type IIAMHR2 OMIM
3175200Peutz-Jeghers syndromeSTK11 OMIM
3101600Pfeiffer syndromeFGFR1 FGFR2 OMIM
3171300PheochromocytomaRET OMIM
4PiebaldismKIT OMIM
4Pituitary tumor, invasivePRKCA OMIM
3263300Polycythemia veraJAK2 OMIM
3611087Polyhydramnios, megalencephaly, and symptomatic epilepsySTRADA OMIM
3610069Polyposis syndrome, hereditary mixed, 2BMPR1A OMIM
3174900Polyposis, juvenile intestinalBMPR1A OMIM
3607596Pontocerebellar hypoplasia type 1AVRK1 OMIM
3263650Popliteal pterygium syndrome, lethal typeRIPK4 OMIM
3601518Prostate cancer 1RNASEL OMIM
3603688Prostate cancer, progression and metastasis ofEPHB2 OMIM
3176920Proteus syndrome, somaticAKT1 OMIM
3614491Pseudohypoaldosteronism, type IIBWNK4 OMIM
3614492Pseudohypoaldosteronism, type IICWNK1 OMIM
3178600Pulmonary hypertension, familial primaryBMPR2 OMIM
3178600Pulmonary hypertension, primary, fenfluramine-associatedBMPR2 OMIM
3265450Pulmonary venoocclusive diseaseBMPR2 OMIM
3262190Rabson-Mendenhall syndromeINSR OMIM
3191830Renal agenesisRET OMIM
3605074Renal cell carcinoma, papillary, familial and somaticMET OMIM
3613862Retinitis pigmentosa 38MERTK OMIM
3614181REtinitis pigmentosa 62MAK OMIM
3268310Robinow syndrome, autosomal recessiveROR2 OMIM
3101400Saethre-Chotzen syndromeFGFR2 OMIM
4Scaphocephaly and Axenfeld-Rieger anomalyFGFR2 OMIM
3609579Scaphocephaly, maxillary retrusion, and mental retardationFGFR2 OMIM
4SCID due to LCK deficiencyLCK OMIM
3600802SCID, autosomal recessive, T-negative/B-positive typeJAK3 OMIM
3210600Seckel syndrome 1ATR OMIM
4Selective T-cell defectZAP70 OMIM
3263520Short rib-polydactyly syndorme, type IINEK1 OMIM
3273300Spermatocytic seminoma, somaticFGFR3 OMIM
3604432Spinocerebellar ataxia 11TTBK2 OMIM
3605361Spinocerebellar ataxia 14PRKCG OMIM
3271665Spondylometaepiphyseal dysplasia, short limb-hand typeDDR2 OMIM
4T-cell prolymphocytic leukemia, sporadicATM OMIM
3600376Telangiectasia, hereditary hemorrhagic, type 2ACVRL1 OMIM
3273300Testicular tumor, sporadicSTK11 OMIM
3187600Thanatophoric dysplasia, type IFGFR3 OMIM
3187601Thanatophoric dysplasia, type IIFGFR3 OMIM
3614521Thrombocythemia 3JAK2 OMIM
3188000Thrombocytopenia-2MASTL OMIM
3188550Thyroid carcinoma, papillaryTRIM24 TRIM33 OMIM
3600334Tibial muscular dystrophy, tardiveTTN OMIM
4Transient erythroblastopenia of childhoodTEC OMIM
3190440Trigonocephaly 1FGFR1 OMIM
3611521Tyrosine kinase 2 deficiencyTYK2 OMIM
3600195Venous malformations, multiple cutaneous and mucosalTEK OMIM
3226980Wolcott-Rallison syndromeEIF2AK3 OMIM
3176430[Premature chromatid separation trait]BUB1B OMIM
3105500{Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to}TRPM7 OMIM
3611064{Asthma susceptibility 5}IRAK3 OMIM
3611015{Autism suseptibility 9}MET OMIM
4{Breast and colorectal cancer, susceptibility to}CHEK2 OMIM
3114480{Breast cancer, susceptibility to}ATM CHEK2 OMIM
3600880{Budd-Chiari syndrome}JAK2 OMIM
4{Cancer progression/metastasis}FGFR4 OMIM
3601367{Cerebral infarction, susceptibility to}PRKCH OMIM
3114500{Colon cancer, susceptibility to}AURKA OMIM
3608901{Coronary heart disease, susceptibility to, 5}KALRN OMIM
3602089{Hemangioma, capillary infantile, susceptibility to}KDR OMIM
3142623{Hirschsprung disease, susceptibility to, 1}RET OMIM
3609048{Melanoma, cutaneous malignant, 3}CDK4 OMIM
3132800{Multiple self-healing squamous epithelioma, susceptiblity to}TGFBR1 OMIM
3613014{Neuroblastoma, susceptibility to, 3}ALK OMIM
3211980{Non-small cell lung cancer, susceptibility to}EGFR OMIM
3176807{Prostate cancer, familial, susceptibility to}CHEK2 OMIM
3181500{Schizophrenia, susceptibility to}AKT1 OMIM