Kinase | Diseases | OMIM | Protein name |
INSR | Insulin resistance, Insulin resistance, type A, Noninsulin-dependent diabetes mellitus (NIDDM), Insulin-resistant diabetes mellitus with acanthosis nigricans, Insulin-resistant diabetes mellitus with acanthosis nigricans and the polycystic ovary syndrome, Leprechaunism | 147670 | Insulin receptor |
DDR2 | Insensitivity to pain, Congenital, With anhidrosis | 191311 | Discoidin domain receptor 2 |
FGFR1 | Pfeiffer´s syndrome, Autosomal dominant Kallmann syndrome | 136350; 101600 | Basic fibroblast growth factor receptor 1 |
JAK3 | T-negative/B-positive type severe combined immunodeficiency | 600173 | Tyrosine-protein kinase JAK3 |
JAK3dom2 | T-negative/B-positive type severe combined immunodeficiency | 600173 | Tyrosine-protein kinase JAK3 |
KIT | Piepaldism, Mast cell leukemia, Systemic mast-cell disease, Acute myeloid leukemia, Childhood-onset sporadic mastocytosis, Germ cell tumor, Gastrointestinal stromal tumor (GIST) | 164920; 172800; 606764 | Mast/stem cell growth factor receptor |
FGFR3 | Hypochondroplasia, Saddan dysplasia, Urothelial cell carcinoma (UCC), Thanatophoric dysplasia (TD) | 134934; 100800; 123500; 146000; 187600; 600593; 109800; 603956 | Fibroblast growth factor receptor 3 |
MET | Hereditary papillary renal carcinoma, Childhood hepatocellular carcinomas | 164860 | Hepatocyte growth factor receptor |
ERBB2 | v-erb-b2 avian erythroblastic leukemia | 164870 | Receptor protein-tyrosine kinase ERBB-2 |
FGFR2 | Jackson-Weiss syndrome (JWS), Craniofacial dysostosis type I (CFD1), Apert syndrome, Acrocephalosyndactyly type I (ACS I), Pfeiffer syndrome (PS), Acrocephalosyndactyly type V (ACS V), Crouzon syndrome (CS) | 176943; 101200; 101600; 123150; 123500 | Fibroblast growth factor receptor 2 |
ZAP70 | ZAP70 deficiency | 176947 | Tyrosine-protein kinase ZAP-70 |
RET | Multiple endocrine neoplasia type II, Familial medullary thyroid carcinoma, Sporadic medullary thyroid carcinoma, Hirschsprung disease | 164761; 155240; 171400; 162300; 142623; 188550 | Proto-oncogene tyrosine-protein kinase receptor RET |
NTRK1 | Congenital insensitivity to pain and anhidrosis, Medullary thyroid carcinomas | 191315; 164970; 256800 | High affinity nerve growth factor receptor |
BTK | X-linked agammaglobulinemia | 300300 | Tyrosine-protein kinase BTK |
STK11 | Peutz-Jeghers syndrome (PJS), Sporadic testicular carcinoma, Sporadic malignant melanoma, Pancreatic cancer, Colon cancer, Hepatocellular carcinoma (HCC), Minimal deviation adenocarcinoma (MDA) | 602216; 175200 | Serine/threonine-protein kinase 11 |
TGFBR2 | Hereditary nonpolyposis colorectal cancer, Esophageal cancer, Head and neck squamous carcinoma, Cutaneous T-cell lymphoma | 190182; 133239 | TGF-beta receptor type II |
CDK4 | Melanoma | 123829 | Cell division protein kinase 4 |
ACVRL1 | Hereditary hemorrhagic telangiectasia type 2 (HHT2), RENDU-OSLER-WEBER SYNDROME 2 (ORW2) | 601284; 600376 | Serine/threonine-protein kinase receptor R3 |
TEK | Multiple venous malformations of the skin and mucous membranes | 600221; 600195 | Angiopoietin 1 receptor |
PAK3 | X-linked nonsyndromic mental retardation (MRX) | 300142 | Serine/threonine-protein kinase PAK 3 |
MST1R | Dis RON | 600168 | Macrophage-stimulating protein receptor |
RPS6KA3 | Coffin-Lowry syndrome | 300075; 303600 | Ribosomal protein S6 kinase alpha 3 |
RPS6KA3dom2 | Coffin-Lowry syndrome | 300075; 303600 | Ribosomal protein S6 kinase alpha 3 |
FLT4 | Hereditary lymphedema, Juvenile hemangioma | 136352 | Vascular endothelial growth factor receptor 3 |
FLT3 | Acute myeloid leukemia, Acute lymphocytic leukemia, Myelodysplastic syndrome | 136351 | FL cytokine receptor |
RHOK | Oguchi disease, Autosomal recessive retinis pigmentosa | 180381; 258100; 268000 | Rhodopsin kinase |
CHEK2 | Li-Fraumeni syndrome, Breast cancer, Hereditary prostate cancer (HPC), Colorectal cancer or risk | 604373; 151623 | Serine/threonine-protein kinase CHK2 |
PRKAA1 | PRKAA1 deficiency | 602739 | 5'-AMP-activated protein kinase, catalytic alpha-1 chain |
PRKAA2 | PRKAA2 deficiency | 600497 | 5'-AMP-activated protein kinase, catalytic alpha-2 chain |
ROR2 | Robinow syndrome | 602337; 113000; 268310 | Tyrosine-protein kinase transmembrane receptor ROR2 |
MERTK | Retinitis pigmentosa | 604705; 268000 | Proto-oncogene tyrosine-protein kinase MER |
IRAK4 | IRAK4 deficiency | 606883 | Interleukin-1 receptor associated kinase 4 |
AMHR2 | Persistent Müllerian duct syndrome, Type II | 600956; 261550 | Anti-Mullerian hormone type II receptor |
BMPR2 | Primary pulmonary hypertension | 600799; 178600 | Bone morphogenetic protein receptor type II |
BMPR1A | Juvenile polyposis syndrome, Cowden-like syndrome | 601299; 158350; 174900 | Bone morphogenetic protein receptor type IA |
GUCY2D | Leber congenital amaurosis, Cone-rod dystrophy | 600179; 204000; 601777; 600977 | Retinal guanylyl cyclase 1 |
PHKG2 | Deficiency of liver phosphorylase kinase and cirrhosis | 172471 | Phosphorylase B kinase gamma catalytic chain, testis/liver isoform |
PRKCG | Spinocerebellar ataxia-14 | 176980; 605361 | Protein kinase C, gamma type |
LCK | Human HSB2 T-cell leukemia | 153390 | Proto-oncogene tyrosine-protein kinase LCK |
MAP2K3 | Colon cancer | 602315 | Dual specificity mitogen-activated protein kinase kinase 3 |
LTK | Systemic lupus erythematosus | 151520 | Leukocyte tyrosine kinase |