Index | Disease ID | Description | Involved kinases | Source |
---|
1 | H00001 | Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) | ABL1 BCR | KEGG |
1 | H00003 | Acute myeloid leukemia (AML) | FLT3 KIT | KEGG |
1 | H00004 | Chronic myeloid leukemia (CML) | ABL1 BCR | KEGG |
1 | H00005 | Chronic lymphocytic leukemia (CLL) | ATM | KEGG |
1 | H00010 | Multiple myeloma | FGFR3 | KEGG |
1 | H00012 | Polycythemia vera | JAK2 | KEGG |
1 | H00014 | Non-small cell lung cancer | ALK ROS1 | KEGG |
1 | H00015 | Malignant pleural mesothelioma | IGF1R | KEGG |
1 | H00016 | Oral cancer | EGFR | KEGG |
1 | H00017 | Esophageal cancer | EGFR | KEGG |
1 | H00018 | Gastric cancer | EGFR ERBB2 FGFR2 MET | KEGG |
1 | H00019 | Pancreatic cancer | ERBB2 STK11 | KEGG |
1 | H00020 | Colorectal cancer | TGFBR2 | KEGG |
1 | H00021 | Renal cell carcinoma | MET | KEGG |
1 | H00022 | Bladder cancer | DAPK1 EGFR ERBB2 FGFR3 | KEGG |
1 | H00026 | Endometrial Cancer | ERBB2 | KEGG |
1 | H00027 | Ovarian cancer | AKT2 ERBB2 | KEGG |
1 | H00028 | Choriocarcinoma | CSF1R EGFR ERBB2 | KEGG |
1 | H00030 | Cervical cancer | CDK4 EGFR ERBB2 | KEGG |
1 | H00031 | Breast cancer | ERBB2 | KEGG |
1 | H00032 | Thyroid cancer | BRAF NTRK1 RET | KEGG |
1 | H00037 | Alveolar rhabdomyosarcoma | ATR | KEGG |
1 | H00038 | Malignant melanoma | BRAF CDK4 | KEGG |
1 | H00042 | Glioma | CDK4 EGFR PDGFRA PDGFRB | KEGG |
1 | H00043 | Neuroblastoma | NTRK1 NTRK2 NTRK3 | KEGG |
1 | H00046 | Cholangiocarcinoma | ERBB2 MET | KEGG |
1 | H00050 | Synovial sarcoma | IGF1R | KEGG |
1 | H00055 | Laryngeal cancer | EGFR | KEGG |
1 | H00063 | Spinocerebellar ataxia (SCA) | CABC1 PRKCG TTBK2 | KEGG |
1 | H00064 | Ataxia telangiectasia (AT) | ATM | KEGG |
1 | H00066 | Lewy body dementia (LBD) | LRRK2 | KEGG |
1 | H00069 | Glycogen storage diseases (GSD) | PHKG2 | KEGG |
1 | H00085 | Agammaglobulinemias | BTK | KEGG |
1 | H00091 | T-B+Severe combined immunodeficiencies (SCIDs) | JAK3 | KEGG |
1 | H00093 | Combined immunodeficiencies (CIDs) | LCK ZAP70 | KEGG |
1 | H00170 | Piebaldism | KIT | KEGG |
1 | H00243 | Hyperkalemic distal renal tubular acidosis (RTA type 4) | WNK1 WNK4 | KEGG |
1 | H00254 | Pituitary Dwarfism (PD) | BTK | KEGG |
1 | H00255 | Hypogonadotropic hypogonadism | FGFR1 | KEGG |
1 | H00264 | Charcot-Marie-Tooth disease (CMT) | HSPB8 | KEGG |
1 | H00292 | Hypertrophic cardiomyopathy (HCM) | TTN | KEGG |
1 | H00294 | Dilated cardiomyopathy (DCM) | TTN | KEGG |
1 | H00408 | Type I diabetes mellitus | ERBB3 PRKCQ | KEGG |
1 | H00410 | Maturity onset diabetes of the young (MODY) | BLK | KEGG |
1 | H00420 | Familial partial lipodystrophy (FPL) | AKT2 | KEGG |
1 | H00430 | Fibrodysplasia ossificans progressiva (FOP) | ACVR1 | KEGG |
1 | H00443 | Osteoglophonic dysplasia (OD) | FGFR1 | KEGG |
1 | H00470 | Acromesomelic dysplasia, Maroteaux type | NPR2 | KEGG |
1 | H00478 | Prader-Willi and Angelman syndromes | CDKL5 | KEGG |
1 | H00480 | Non-syndromic X-linked mental retardation | PAK3 RPS6KA3 | KEGG |
1 | H00481 | Cone-rod dystrophy and cone dystrophy | GUCY2D | KEGG |
1 | H00505 | FGFR3-related short limb skeletal dysplasias | FGFR3 | KEGG |
1 | H00512 | Permanent neonatal diabetes mellitus (PNDM) | EIF2AK3 | KEGG |
1 | H00523 | Noonan syndrome and related disorders | ARAF BRAF MAP2K1 MAP2K2 | KEGG |
1 | H00527 | Retinitis pigmentosa (RP) | MERTK | KEGG |
1 | H00531 | Venous malformations | TEK | KEGG |
1 | H00533 | Hereditary hemorrhagic telangiectasia (HHT) | ACVRL1 | KEGG |
1 | H00535 | Lymphedemas | FLT4 | KEGG |
1 | H00537 | Nephronophthisis-medullary cystic kidney disease | NEK8 | KEGG |
1 | H00539 | PTEN hamartoma tumor syndrome (PHTS) | AKT1 | KEGG |
1 | H00568 | Myotonic dystrophy (DM) | DMPK | KEGG |
1 | H00574 | Coffin-Lowry syndrome (CLS) | RPS6KA3 | KEGG |
1 | H00594 | Distal muscular dystrophies | TTN | KEGG |
1 | H00605 | Deafness, autosomal recessive | MYO3A | KEGG |
1 | H00606 | Early infantile epileptic encephalopathy | CDKL5 MAPK10 | KEGG |
1 | H00666 | Peutz-Jeghers syndrome | STK11 | KEGG |
1 | H00719 | Leprechaunism | INSR | KEGG |
1 | H00770 | Congenital myasthenic syndrome | MUSK | KEGG |
1 | H00787 | Congenital stationary night blindness (CSNB) | GRK1 | KEGG |
1 | H00800 | Loeys-Dietz syndrome (LDS) | TGFBR1 TGFBR2 | KEGG |
1 | H00801 | Familial thoracic aortic aneurysm and dissection (TAAD) | MYLK TGFBR1 TGFBR2 | KEGG |
1 | H00822 | Renal agenesis and Renal adysplasia | RET | KEGG |
1 | H00837 | Leber congenital amaurosis (LCR) | GUCY2D | KEGG |
1 | H00848 | Ataxia with ocular apraxia (AOA) | ATM | KEGG |
1 | H00856 | Distal hereditary motor neuropathies (dHMN) | HSPB8 | KEGG |
1 | H00881 | Li-Fraumeni syndrome | CHEK2 | KEGG |
1 | H00894 | FG syndrome (FGS) | CASK | KEGG |
1 | H00897 | Pontocerebellar hypoplasia | VRK1 | KEGG |
1 | H00910 | Hirschsprung disease (HD) | RET | KEGG |
1 | H00916 | Congenital central hypoventilation syndrome (CCHS) | RET | KEGG |
1 | H00942 | Rabson-Mendenhall syndrome | INSR | KEGG |
1 | H00978 | Thrombocytopenia (THC) | MASTL | KEGG |
1 | H00992 | Seckel syndrome | ATR | KEGG |
1 | H00997 | CATSHL syndrome | FGFR3 | KEGG |
1 | H00999 | Coenzyme Q10 deficiency | CABC1 | KEGG |
1 | H01023 | Juvenile polyposis syndrome | BMPR1A | KEGG |
1 | H01202 | Cataract | EPHA2 | KEGG |
1 | H01207 | Trigonocephaly | FGFR1 | KEGG |
1 | H01210 | Hypomagnesemia | TRPM6 | KEGG |
1 | H01228 | Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN) | INSR | KEGG |
2 | hsa04930 | Type II diabetes mellitus | FRAP1 IKBKB INSR MAPK1 MAPK10 MAPK3 MAPK8 MAPK9 PRKCD PRKCE PRKCZ | KEGG |
2 | hsa05014 | Amyotrophic lateral sclerosis (ALS) | MAP2K3 MAP2K6 MAP3K5 MAPK11 MAPK12 MAPK13 MAPK14 | KEGG |
2 | hsa05020 | Prion diseases | FYN MAP2K1 MAP2K2 MAPK1 MAPK3 PRKACA PRKACB PRKACG PRKX | KEGG |
2 | hsa05030 | Cocaine addiction | CDK5 PRKACA PRKACB PRKACG PRKX
| KEGG |
2 | hsa05034 | Alcoholism | ARAF BRAF CAMK4 CAMKK1 CAMKK2 MAP2K1 MAPK1 MAPK3 NTRK2 PRKACA RAF1 | KEGG |
2 | hsa05110 | Vibrio cholerae infection | PRKACA PRKACB PRKACG PRKCA PRKCB PRKCG PRKX | KEGG |
2 | hsa05120 | Epithelial cell signaling in Helicobacter pylori infection | CHUK CSK EGFR IKBKB LYN MAP2K4 MAP3K14 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK8 MAPK9 MET PAK1 SRC | KEGG |
2 | hsa05130 | Pathogenic Escherichia coli infection | ABL1 FYN PRKCA ROCK1 ROCK2
| KEGG |
2 | hsa05131 | Shigellosis | ABL1 CHUK IKBKB MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK8 MAPK9 RIPK2 ROCK1 ROCK2 SRC | KEGG |
2 | hsa05132 | Salmonella infection | MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK8 MAPK9 PKN1 PKN2 PKN3 ROCK1 ROCK2 | KEGG |
2 | hsa05133 | Pertussis | IRAK1 IRAK4 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK8 MAPK9 | KEGG |
2 | hsa05134 | Legionellosis | CLK1 | KEGG |
2 | hsa05140 | Leishmaniasis | IRAK1 IRAK4 JAK1 JAK2 MAP3K7 MAPK1 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 PRKCB | KEGG |
2 | hsa05142 | Chagas disease (American trypanosomiasis) | AKT1 AKT2 AKT3 CHUK IKBKB IRAK1 IRAK4 MAP2K4 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK8 MAPK9 TGFBR1 TGFBR2 | KEGG |
2 | hsa05143 | African trypanosomiasis | PRKCA PRKCB PRKCG | KEGG |
2 | hsa05144 | Malaria | MET | KEGG |
2 | hsa05145 | Toxoplasmosis | AKT1 AKT2 AKT3 CHUK IKBKB IRAK1 IRAK4 JAK1 JAK2 MAP2K3 MAP2K6 MAP3K7 MAPK1 MAPK10 MAPK11 MAPK12 MAPK13 MAPK14 MAPK3 MAPK8 MAPK9 PDK1 TYK2 | KEGG |
2 | hsa05146 | Amoebiasis | PRKACA PRKACB PRKACG PRKCA PRKCB PRKCG PRKX PTK2 | KEGG |
2 | hsa05152 | Tuberculosis | AKT1 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 |
2 | hsa05160 | Hepatitis C | AKT1 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 |
2 | hsa05162 | Measles | AKT1 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 |
2 | hsa05164 | Influenza A | AKT1 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 |
2 | hsa05168 | Herpes simplex infection | CDC2 CDK2 CHUK CSNK2A1 CSNK2A2 EIF2AK1 EIF2AK2 EIF2AK3 EIF2AK4 IKBKB IKBKE JAK1 JAK2 MAP3K7 MAPK10 MAPK8 MAPK9 RNASEL SRPK1 TBK1 TYK2 | KEGG |
2 | hsa05169 | Epstein-Barr virus infection | AKT1 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 |
2 | hsa05215 | Prostate cancer | AKT1 AKT2 AKT3 ARAF BRAF CDK2 CHUK EGFR ERBB2 FGFR1 FGFR2 FRAP1 GSK3B IGF1R IKBKB INSRR MAP2K1 MAP2K2 MAPK1 MAPK3 PDGFRA PDGFRB PDPK1 RAF1 | KEGG |
2 | hsa05217 | Basal cell carcinoma | GSK3B STK36 | KEGG |
2 | hsa05218 | Melanoma | AKT1 AKT2 AKT3 ARAF BRAF CDK4 CDK6 EGFR FGFR1 IGF1R MAP2K1 MAP2K2 MAPK1 MAPK3 MET PDGFRA PDGFRB RAF1 | KEGG |
2 | hsa05220 | Chronic myeloid leukemia | AKT1 AKT2 AKT3 ARAF BCR BRAF CDK4 CDK6 CHUK IKBKB MAP2K1 MAP2K2 MAPK1 MAPK3 RAF1 TGFBR1 TGFBR2 | KEGG |
2 | hsa05221 | Acute myeloid leukemia | AKT1 AKT2 AKT3 ARAF BRAF CHUK FLT3 FRAP1 IKBKB KIT MAP2K1 MAP2K2 MAPK1 MAPK3 PIM1 PIM2 RAF1 RPS6KB1 RPS6KB2 | KEGG |
2 | hsa05222 | Small cell lung cancer | AKT1 AKT2 AKT3 CDK2 CDK4 CDK6 CHUK IKBKB PTK2 | KEGG |
2 | hsa05323 | Rheumatoid arthritis | FLT1 TEK | KEGG |
2 | hsa05410 | Hypertrophic cardiomyopathy (HCM) | PRKAA1 PRKAA2 TTN | KEGG |
2 | hsa05414 | Dilated cardiomyopathy | PRKACA PRKACB PRKACG PRKX TTN
| KEGG |
2 | hsa05416 | Viral myocarditis | ABL1 ABL2 FYN | KEGG |
4 | | | | OMIM |
3 | 613762 | 46XY sex reversal 6 | MAP3K1 | OMIM |
3 | 100800 | Achondroplasia | FGFR3 | OMIM |
3 | 602875 | Acromesomelic dysplasia, Maroteaux type | NPR2 | OMIM |
3 | 211980 | Adenocarcinoma of lung, response to tyrosine kinase inhibitor in | EGFR | OMIM |
3 | 211980 | Adenocarcinoma of lung, somatic | BRAF ERBB2 | OMIM |
3 | 307200 | Agammaglobulinemia and isolated hormone deficiency | BTK | OMIM |
3 | 300755 | Agammaglobulinemia, X-linked 1 | BTK | OMIM |
3 | 105830 | Angelman syndrome-like | CDKL5 | OMIM |
3 | 207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | FGFR2 | OMIM |
3 | 613780 | Aortic aneurysm, familial thoracic 7 | MYLK | OMIM |
3 | 101200 | Apert syndrome | FGFR2 | OMIM |
3 | 208900 | Ataxia-telangiectasia | ATM | OMIM |
3 | 123790 | Beare-Stevenson cutis gyrata syndrome | FGFR2 | OMIM |
3 | 614592 | Bent bone dysplasia syndrome | FGFR2 | OMIM |
3 | 109800 | Bladder cancer, somatic | FGFR3 | OMIM |
3 | 112600 | Brachydactyly, type A2 | BMPR1B | OMIM |
3 | 113000 | Brachydactyly, type B1 | ROR2 | OMIM |
3 | 114480 | Breast cancer, somatic | AKT1 | OMIM |
3 | 115150 | Cardiofaciocutaneous syndrome | BRAF MAP2K1 MAP2K2 | OMIM |
3 | 604145 | Cardiomyopathy, dilated, 1G | TTN | OMIM |
3 | 613765 | Cardiomyopathy, familial hypertrophic, 9 | TTN | OMIM |
3 | 192600 | Cardiomyopathy, hypertrophic, midventricular, digenic | MYLK2 | OMIM |
3 | 613020 | Cataract, age-related cortical, 2 | EPHA2 | OMIM |
3 | 116600 | Cataract, posterior polar, 1 | EPHA2 | OMIM |
3 | 610474 | CATSHL syndrome | FGFR3 | OMIM |
3 | 209880 | Central hypoventilation syndrome, congenital | RET | OMIM |
3 | 603956 | Cervical cancer, somatic | FGFR3 | OMIM |
3 | 608673 | Charcot-Marie-Tooth disease, axonal, type 2L | HSPB8 | OMIM |
3 | 609441 | Chrondrodysplasia, acromesomelic, with genital anomalies | BMPR1B | OMIM |
4 | | Cirrhosis due to liver phosphorylase kinase deficiency | PHKG2 | OMIM |
3 | 613630 | Cocoon syndrome | CHUK | OMIM |
3 | 612016 | Coenzyme Q10 deficiency, primary, 4 | CABC1 | OMIM |
3 | 303600 | Coffin-Lowry syndrome | RPS6KA3 | OMIM |
4 | | Colon cancer, advanced | SRC | OMIM |
3 | 114500 | Colorectal cancer | BUB1B | OMIM |
4 | | Colorectal cancer with chromosomal instability | BUB1 | OMIM |
3 | 614331 | Colorectal cancer, hereditary nonpolyposis, type 6 | TGFBR2 | OMIM |
4 | | Colorectal cancer, somatic | BRAF AKT1 FGFR3 | OMIM |
3 | 601777 | Cone-rod dystrophy 6 | GUCY2D | OMIM |
4 | | Craniofacial-skeletal-dermatologic dysplasia | FGFR2 | OMIM |
4 | | Craniosynostosis, nonspecific | FGFR2 | OMIM |
3 | 123500 | Crouzon syndrome | FGFR2 | OMIM |
3 | 612247 | Crouzon syndrome with acanthosis nigricans | FGFR3 | OMIM |
3 | 614564 | Cutaneous telangiectasia and cancer syndrome, familial | ATR | OMIM |
3 | 607101 | Deafness, autosomal recessive 30 | MYO3A | OMIM |
3 | 610549 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | INSR | OMIM |
3 | 125853 | Diabetes mellitus, type II | AKT2 | OMIM |
3 | 614616 | Diarrhea 6 | GUCY2C | OMIM |
4 | | Dopamine receptor D2, reduced brain density of | ANKK1 | OMIM |
3 | 314250 | Dystonia-Parkinsonism, X-linked | TAF1 | OMIM |
3 | 612651 | Endocrine-cerebroosteodysplasia | ICK | OMIM |
3 | 300672 | Epileptic encephalopathy, early infantile, 2 | CDKL5 | OMIM |
3 | 606369 | Epileptic encephalopathy, Lennox-Gastaut type | MAPK10 | OMIM |
3 | 133239 | Esophageal cancer, somatic | TGFBR2 | OMIM |
3 | 300422 | FG syndrome 4 | CASK | OMIM |
3 | 135100 | Fibrodysplasia ossificans progressiva | ACVR1 | OMIM |
3 | 137215 | Gastric cancer, somatic | ERBB2 FGFR2 | OMIM |
3 | 606764 | Gastrointestinal stromal tumor, somatic | KIT PDGFRA | OMIM |
3 | 273300 | Germ cell tumors | KIT | OMIM |
3 | 137800 | Glioblastoma, somatic | ERBB2 | OMIM |
3 | 613027 | Glycogen storage disease IXc | PHKG2 | OMIM |
3 | 602089 | Hemangioma, capillary infantile, somatic | FLT4 KDR | OMIM |
3 | 114550 | Hepatocellular carcinoma, childhood type | MET | OMIM |
3 | 613751 | Heterotaxy, visceral, 4, autosomal | ACVR2B | OMIM |
3 | 607685 | Hypereosinophilic syndrome, idiopathic, resistant to imatinib | PDGFRA | OMIM |
3 | 609968 | Hyperinsulinemic hypoglycemia, familial, 5 | INSR | OMIM |
3 | 146000 | Hypochondroplasia | FGFR3 | OMIM |
3 | 146110 | Hypogonadotropic hypogonadism | FGFR1 | OMIM |
3 | 240900 | Hypoinsulinemic hypoglycemia with hemihypertrophy | AKT2 | OMIM |
3 | 602014 | Hypomagnesemia 1, intestinal | TRPM6 | OMIM |
3 | 256800 | Insensitivity to pain, congenital, with anhidrosis | NTRK1 | OMIM |
3 | 270450 | Insulin-like growth factor I, resistance to | IGF1R | OMIM |
3 | 610799 | Invasive pneumococcal disease, recurrent isolated, 1 | IRAK4 | OMIM |
3 | 607676 | IRAK4 deficiency | IRAK4 | OMIM |
3 | 123150 | Jackson-Weiss syndrome | FGFR1 FGFR2 | OMIM |
3 | 174900 | Juvenile polyposis syndrome, infantile form | BMPR1A | OMIM |
3 | 147950 | Kallmann syndrome 2 | FGFR1 | OMIM |
3 | 149730 | LADD syndrome | FGFR2 FGFR3 | OMIM |
3 | 204000 | Leber congenital amaurosis 1 | GUCY2D | OMIM |
3 | 611554 | LEOPARD syndrome 2 | RAF1 | OMIM |
3 | 613707 | LEOPARD syndrome 3 | BRAF | OMIM |
3 | 246200 | Leprechaunism | INSR | OMIM |
3 | 607598 | Lethal congenital contractural syndrome 2 | ERBB3 | OMIM |
4 | | Leukemia, acute lymphoblastic | FLT3 | OMIM |
3 | 613065 | Leukemia, acute lymphocytic | BCR | OMIM |
3 | 601626 | Leukemia, acute myelogenous | JAK2 | OMIM |
3 | 601626 | Leukemia, acute myeloid | FLT3 KIT | OMIM |
4 | | Leukemia, acute myeloid, reduced survival in | FLT3 | OMIM |
4 | | Leukemia, acute myeloid, with eosinophilia | ABL2 | OMIM |
3 | 608232 | Leukemia, chronic myeloid | BCR | OMIM |
4 | | Leukemia, Philadelphia chromosome-positive, resistant to imatinib | ABL1 | OMIM |
3 | 221820 | Leukoencephalopathy, diffuse hereditary, with spheroids | CSF1R | OMIM |
3 | 609265 | Li-Fraumeni syndrome | CHEK2 | OMIM |
3 | 609192 | Loeys-Dietz syndrome, type 1A | TGFBR1 | OMIM |
3 | 610168 | Loeys-Dietz syndrome, type 1B | TGFBR2 | OMIM |
3 | 608967 | Loeys-Dietz syndrome, type 2A | TGFBR1 | OMIM |
3 | 610380 | Loeys-Dietz syndrome, type 2B | TGFBR2 | OMIM |
3 | 211980 | Lung cancer, somatic | MAP3K8 | OMIM |
3 | 153100 | Lymphedema, hereditary I | FLT4 | OMIM |
4 | | Lymphoma, B-cell non-Hodgkin, somatic | ATM | OMIM |
4 | | Lymphoma, mantle cell | ATM | OMIM |
3 | 613011 | Lymphoproliferative syndrome, EBV-associated, autosomal, 1 | ITK | OMIM |
4 | | Mast cell leukemia | KIT | OMIM |
4 | | Mastocytosis with associated hematologic disorder | KIT | OMIM |
3 | 613375 | Maturity-onset diabetes of the young, type 11 | BLK | OMIM |
3 | 614665 | Meconium ileus | GUCY2C | OMIM |
3 | 155240 | Medullary thyroid carcinoma | RET | OMIM |
3 | 155240 | Medullary thyroid carcinoma, familial | NTRK1 | OMIM |
4 | | Melanoma, malignant sporadic | STK11 | OMIM |
4 | | Melanoma, malignant, somatic | BRAF | OMIM |
3 | 300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | CASK | OMIM |
3 | 614104 | Mental retardation, autosomal dominant 7 | DYRK1A | OMIM |
3 | 300422 | Mental retardation, with or without nystagmus | CASK | OMIM |
3 | 300844 | Mental retardation, X-linked 19 | RPS6KA3 | OMIM |
3 | 300558 | Mental retardation, X-linked 30/47 | PAK3 | OMIM |
3 | 257300 | Mosaic variegated aneuploidy syndrome | BUB1B | OMIM |
3 | 602849 | Muenke syndrome | FGFR3 | OMIM |
3 | 171400 | Multiple endocrine neoplasia IIA | RET | OMIM |
3 | 162300 | Multiple endocrine neoplasia IIB | RET | OMIM |
3 | 608807 | Muscular dystrophy, limb-girdle, type 2J | TTN | OMIM |
3 | 608931 | Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency | MUSK | OMIM |
3 | 254450 | Myelofibrosis, idiopathic | JAK2 | OMIM |
4 | | Myelomonocytic leukemia, chronic | PDGFRB | OMIM |
3 | 131440 | Myeloproliferative disorder with eosinophilia | PDGFRB | OMIM |
4 | | Myeloproliferative disorder with erythrocytosis | JAK2 | OMIM |
3 | 611705 | Myopathy, early-onset, with fatal cardiomyopathy | TTN | OMIM |
3 | 603689 | Myopathy, proximal, with early respiratory muscle involvement | TTN | OMIM |
3 | 160900 | Myotonic dystrophy 1 | DMPK | OMIM |
3 | 613824 | Nephronophthisis 9 | NEK8 | OMIM |
3 | 158590 | Neuropathy, distal hereditary motor, type IIA | HSPB8 | OMIM |
3 | 201300 | Neuropathy, hereditary sensory and autonomic, type II | WNK1 | OMIM |
3 | 162900 | Nevus, keratinocytic, nonepidermolytic | FGFR3 | OMIM |
3 | 211980 | Non-small cell lung cancer, response to tyrosine kinase inhibitor in | EGFR | OMIM |
4 | | Non-small cell lung cancer, somatic | BRAF | OMIM |
3 | 611553 | Noonan syndrome 5 | RAF1 | OMIM |
3 | 613706 | Noonan syndrome 7 | BRAF | OMIM |
3 | 613886 | Obesity, hyperphagia, and developmental delay | NTRK2 | OMIM |
3 | 613411 | Oguchi disease-2 | GRK1 | OMIM |
3 | 166250 | Osteoglophonic dysplasia | FGFR1 | OMIM |
3 | 259500 | Osteosarcoma, somatic | CHEK2 | OMIM |
3 | 167000 | Ovarian cancer, somatic | AKT1 | OMIM |
4 | | Ovarian cancer, somatic, | ERBB2 | OMIM |
4 | | Pancreatic cancer, somatic | ACVR1B | OMIM |
4 | | Pancreatic cancer, sporadic | STK11 | OMIM |
3 | 605909 | Parkinson disease 6, early onset | PINK1 | OMIM |
3 | 607060 | Parkinson disease 8 | LRRK2 | OMIM |
3 | 261550 | Persistent Mullerian duct syndrome, type II | AMHR2 | OMIM |
3 | 175200 | Peutz-Jeghers syndrome | STK11 | OMIM |
3 | 101600 | Pfeiffer syndrome | FGFR1 FGFR2 | OMIM |
3 | 171300 | Pheochromocytoma | RET | OMIM |
4 | | Piebaldism | KIT | OMIM |
4 | | Pituitary tumor, invasive | PRKCA | OMIM |
3 | 263300 | Polycythemia vera | JAK2 | OMIM |
3 | 611087 | Polyhydramnios, megalencephaly, and symptomatic epilepsy | STRADA | OMIM |
3 | 610069 | Polyposis syndrome, hereditary mixed, 2 | BMPR1A | OMIM |
3 | 174900 | Polyposis, juvenile intestinal | BMPR1A | OMIM |
3 | 607596 | Pontocerebellar hypoplasia type 1A | VRK1 | OMIM |
3 | 263650 | Popliteal pterygium syndrome, lethal type | RIPK4 | OMIM |
3 | 601518 | Prostate cancer 1 | RNASEL | OMIM |
3 | 603688 | Prostate cancer, progression and metastasis of | EPHB2 | OMIM |
3 | 176920 | Proteus syndrome, somatic | AKT1 | OMIM |
3 | 614491 | Pseudohypoaldosteronism, type IIB | WNK4 | OMIM |
3 | 614492 | Pseudohypoaldosteronism, type IIC | WNK1 | OMIM |
3 | 178600 | Pulmonary hypertension, familial primary | BMPR2 | OMIM |
3 | 178600 | Pulmonary hypertension, primary, fenfluramine-associated | BMPR2 | OMIM |
3 | 265450 | Pulmonary venoocclusive disease | BMPR2 | OMIM |
3 | 262190 | Rabson-Mendenhall syndrome | INSR | OMIM |
3 | 191830 | Renal agenesis | RET | OMIM |
3 | 605074 | Renal cell carcinoma, papillary, familial and somatic | MET | OMIM |
3 | 613862 | Retinitis pigmentosa 38 | MERTK | OMIM |
3 | 614181 | REtinitis pigmentosa 62 | MAK | OMIM |
3 | 268310 | Robinow syndrome, autosomal recessive | ROR2 | OMIM |
3 | 101400 | Saethre-Chotzen syndrome | FGFR2 | OMIM |
4 | | Scaphocephaly and Axenfeld-Rieger anomaly | FGFR2 | OMIM |
3 | 609579 | Scaphocephaly, maxillary retrusion, and mental retardation | FGFR2 | OMIM |
4 | | SCID due to LCK deficiency | LCK | OMIM |
3 | 600802 | SCID, autosomal recessive, T-negative/B-positive type | JAK3 | OMIM |
3 | 210600 | Seckel syndrome 1 | ATR | OMIM |
4 | | Selective T-cell defect | ZAP70 | OMIM |
3 | 263520 | Short rib-polydactyly syndorme, type II | NEK1 | OMIM |
3 | 273300 | Spermatocytic seminoma, somatic | FGFR3 | OMIM |
3 | 604432 | Spinocerebellar ataxia 11 | TTBK2 | OMIM |
3 | 605361 | Spinocerebellar ataxia 14 | PRKCG | OMIM |
3 | 271665 | Spondylometaepiphyseal dysplasia, short limb-hand type | DDR2 | OMIM |
4 | | T-cell prolymphocytic leukemia, sporadic | ATM | OMIM |
3 | 600376 | Telangiectasia, hereditary hemorrhagic, type 2 | ACVRL1 | OMIM |
3 | 273300 | Testicular tumor, sporadic | STK11 | OMIM |
3 | 187600 | Thanatophoric dysplasia, type I | FGFR3 | OMIM |
3 | 187601 | Thanatophoric dysplasia, type II | FGFR3 | OMIM |
3 | 614521 | Thrombocythemia 3 | JAK2 | OMIM |
3 | 188000 | Thrombocytopenia-2 | MASTL | OMIM |
3 | 188550 | Thyroid carcinoma, papillary | TRIM24 TRIM33 | OMIM |
3 | 600334 | Tibial muscular dystrophy, tardive | TTN | OMIM |
4 | | Transient erythroblastopenia of childhood | TEC | OMIM |
3 | 190440 | Trigonocephaly 1 | FGFR1 | OMIM |
3 | 611521 | Tyrosine kinase 2 deficiency | TYK2 | OMIM |
3 | 600195 | Venous malformations, multiple cutaneous and mucosal | TEK | OMIM |
3 | 226980 | Wolcott-Rallison syndrome | EIF2AK3 | OMIM |
3 | 176430 | [Premature chromatid separation trait] | BUB1B | OMIM |
3 | 105500 | {Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to} | TRPM7 | OMIM |
3 | 611064 | {Asthma susceptibility 5} | IRAK3 | OMIM |
3 | 611015 | {Autism suseptibility 9} | MET | OMIM |
4 | | {Breast and colorectal cancer, susceptibility to} | CHEK2 | OMIM |
3 | 114480 | {Breast cancer, susceptibility to} | ATM CHEK2 | OMIM |
3 | 600880 | {Budd-Chiari syndrome} | JAK2 | OMIM |
4 | | {Cancer progression/metastasis} | FGFR4 | OMIM |
3 | 601367 | {Cerebral infarction, susceptibility to} | PRKCH | OMIM |
3 | 114500 | {Colon cancer, susceptibility to} | AURKA | OMIM |
3 | 608901 | {Coronary heart disease, susceptibility to, 5} | KALRN | OMIM |
3 | 602089 | {Hemangioma, capillary infantile, susceptibility to} | KDR | OMIM |
3 | 142623 | {Hirschsprung disease, susceptibility to, 1} | RET | OMIM |
3 | 609048 | {Melanoma, cutaneous malignant, 3} | CDK4 | OMIM |
3 | 132800 | {Multiple self-healing squamous epithelioma, susceptiblity to} | TGFBR1 | OMIM |
3 | 613014 | {Neuroblastoma, susceptibility to, 3} | ALK | OMIM |
3 | 211980 | {Non-small cell lung cancer, susceptibility to} | EGFR | OMIM |
3 | 176807 | {Prostate cancer, familial, susceptibility to} | CHEK2 | OMIM |
3 | 181500 | {Schizophrenia, susceptibility to} | AKT1 | OMIM |