Diseases caused by mutations in KinMutBase

KinaseDiseasesOMIMProtein name
INSRInsulin 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,
147670Insulin receptor
DDR2Insensitivity to pain,
With anhidrosis
191311Discoidin domain receptor 2
FGFR1Pfeiffer´s syndrome,
Autosomal dominant Kallmann syndrome
136350; 101600Basic fibroblast growth factor receptor 1
JAK3T-negative/B-positive type severe combined immunodeficiency600173Tyrosine-protein kinase JAK3
JAK3dom2T-negative/B-positive type severe combined immunodeficiency600173Tyrosine-protein kinase JAK3
Mast cell leukemia,
Systemic mast-cell disease,
Acute myeloid leukemia,
Childhood-onset sporadic mastocytosis,
Germ cell tumor,
Gastrointestinal stromal tumor (GIST)
164920; 172800; 606764Mast/stem cell growth factor receptor
Saddan dysplasia,
Urothelial cell carcinoma (UCC),
Thanatophoric dysplasia (TD)
134934; 100800; 123500; 146000; 187600; 600593; 109800; 603956Fibroblast growth factor receptor 3
METHereditary papillary renal carcinoma,
Childhood hepatocellular carcinomas
164860Hepatocyte growth factor receptor
ERBB2v-erb-b2 avian erythroblastic leukemia164870Receptor protein-tyrosine kinase ERBB-2
FGFR2Jackson-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; 123500Fibroblast growth factor receptor 2
ZAP70ZAP70 deficiency176947Tyrosine-protein kinase ZAP-70
RETMultiple endocrine neoplasia type II,
Familial medullary thyroid carcinoma,
Sporadic medullary thyroid carcinoma,
Hirschsprung disease
164761; 155240; 171400; 162300; 142623; 188550Proto-oncogene tyrosine-protein kinase receptor RET
NTRK1Congenital insensitivity to pain and anhidrosis,
Medullary thyroid carcinomas
191315; 164970; 256800High affinity nerve growth factor receptor
BTKX-linked agammaglobulinemia300300Tyrosine-protein kinase BTK
STK11Peutz-Jeghers syndrome (PJS),
Sporadic testicular carcinoma,
Sporadic malignant melanoma,
Pancreatic cancer,
Colon cancer,
Hepatocellular carcinoma (HCC),
Minimal deviation adenocarcinoma (MDA)
602216; 175200Serine/threonine-protein kinase 11
TGFBR2Hereditary nonpolyposis colorectal cancer,
Esophageal cancer,
Head and neck squamous carcinoma,
Cutaneous T-cell lymphoma
190182; 133239TGF-beta receptor type II
CDK4Melanoma123829Cell division protein kinase 4
ACVRL1Hereditary hemorrhagic telangiectasia type 2 (HHT2),
601284; 600376Serine/threonine-protein kinase receptor R3
TEKMultiple venous malformations of the skin and mucous membranes600221; 600195Angiopoietin 1 receptor
PAK3X-linked nonsyndromic mental retardation (MRX)300142Serine/threonine-protein kinase PAK 3
MST1RDis RON600168Macrophage-stimulating protein receptor
RPS6KA3Coffin-Lowry syndrome300075; 303600Ribosomal protein S6 kinase alpha 3
RPS6KA3dom2Coffin-Lowry syndrome300075; 303600Ribosomal protein S6 kinase alpha 3
FLT4Hereditary lymphedema,
Juvenile hemangioma
136352Vascular endothelial growth factor receptor 3
FLT3Acute myeloid leukemia,
Acute lymphocytic leukemia,
Myelodysplastic syndrome
136351FL cytokine receptor
RHOKOguchi disease,
Autosomal recessive retinis pigmentosa
180381; 258100; 268000Rhodopsin kinase
CHEK2Li-Fraumeni syndrome,
Breast cancer,
Hereditary prostate cancer (HPC),
Colorectal cancer or risk
604373; 151623Serine/threonine-protein kinase CHK2
PRKAA1PRKAA1 deficiency6027395'-AMP-activated protein kinase, catalytic alpha-1 chain
PRKAA2PRKAA2 deficiency6004975'-AMP-activated protein kinase, catalytic alpha-2 chain
ROR2Robinow syndrome602337; 113000; 268310Tyrosine-protein kinase transmembrane receptor ROR2
MERTKRetinitis pigmentosa604705; 268000Proto-oncogene tyrosine-protein kinase MER
IRAK4IRAK4 deficiency606883Interleukin-1 receptor associated kinase 4
AMHR2Persistent Müllerian duct syndrome, Type II600956; 261550Anti-Mullerian hormone type II receptor
BMPR2Primary pulmonary hypertension600799; 178600Bone morphogenetic protein receptor type II
BMPR1AJuvenile polyposis syndrome,
Cowden-like syndrome
601299; 158350; 174900Bone morphogenetic protein receptor type IA
GUCY2DLeber congenital amaurosis,
Cone-rod dystrophy
600179; 204000; 601777; 600977Retinal guanylyl cyclase 1
PHKG2Deficiency of liver phosphorylase kinase and cirrhosis172471Phosphorylase B kinase gamma catalytic chain, testis/liver isoform
PRKCGSpinocerebellar ataxia-14176980; 605361Protein kinase C, gamma type
LCKHuman HSB2 T-cell leukemia153390Proto-oncogene tyrosine-protein kinase LCK
MAP2K3Colon cancer602315Dual specificity mitogen-activated protein kinase kinase 3
LTKSystemic lupus erythematosus151520Leukocyte tyrosine kinase