Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease: Piebaldism
Piebaldism 		1.000 GermlineCausalMutation ORPHANET A novel mutation of KIT gene results in piebaldism in a Chinese family. 25199540

2016
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0080024
Disease: Piebaldism
Piebaldism 		1.000 GermlineCausalMutation ORPHANET Piebaldism. 22670867

2013
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		1.000 SomaticCausalMutation ORPHANET A minority (10-15%) of GISTs in adults, along with ∼85% of pediatric GISTs, lacks oncogenic mutations in KIT and PDGFRA. 23730622

2013
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		1.000 GermlineCausalMutation ORPHANET In a family with multiple gastrointestinal stromal tumors and diffuse hyperplasia of myenteric plexus layer, we have identified another mutation of KIT, a single base mutation, resulting in the substitution of Glu for Lys(642) in the kinase I domain, and studied its biological effect in a cellular system. 11073817

2000
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		0.670 SomaticCausalMutation ORPHANET Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. 23730622

2013
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma 		0.670 GermlineCausalMutation ORPHANET Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors. 11073817

2000
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		0.500 SomaticCausalMutation ORPHANET Molecular and clinicopathologic characterization of AML with isolated trisomy 4. 22338050

2012
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1879321
Disease: Acute Myeloid Leukemia (AML-M2)
Acute Myeloid Leukemia (AML-M2) 		0.500 SomaticCausalMutation ORPHANET Clinical implications of c-Kit mutations in acute myelogenous leukemia. 20425418

2009
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0036631
Disease: Seminoma
Seminoma 		0.400 SomaticCausalMutation ORPHANET Biochemical evidence of KIT activation, as assessed by KIT phosphorylation and KIT association with phosphatidylinositol (PI) 3-kinase in tumor cell lysates, was largely confined to seminomas with a genomic KIT mutation. 14695343

2004
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0263402
Disease: Telangiectasia macularis eruptiva perstans
Telangiectasia macularis eruptiva perstans 		0.400 GermlineCausalMutation ORPHANET

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0343115
Disease: Skin Mastocytoma
Skin Mastocytoma 		0.310 GermlineCausalMutation ORPHANET Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations. 19865100

2010
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0343115
Disease: Skin Mastocytoma
Skin Mastocytoma 		0.310 GermlineCausalMutation ORPHANET Association of paediatric mastocytosis with a polymorphism resulting in an amino acid substitution (M541L) in the transmembrane domain of c-KIT. 18795925

2008
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C1301365
Disease: Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease 		0.310 SomaticCausalMutation ORPHANET

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia 		0.300 Biomarker ORPHANET Core-binding factor acute myeloid leukemia in pediatric patients enrolled in the AIEOP AML 2002/01 trial: screening and prognostic impact of c-KIT mutations. 24226631

2014
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C0023479
Disease: Acute myelomonocytic leukemia
Acute myelomonocytic leukemia 		0.300 Biomarker ORPHANET The importance of relative mutant level for evaluating impact on outcome of KIT, FLT3 and CBL mutations in core-binding factor acute myeloid leukemia. 23783394

2013
Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C3897042
Disease: Smoldering Systemic Mastocytosis
Smoldering Systemic Mastocytosis 		0.300 SomaticCausalMutation ORPHANET

Entrez Id: 3815
Gene Symbol: KIT
KIT
CUI: C4509020
Disease: Isolated bone marrow mastocytosis
Isolated bone marrow mastocytosis 		0.300 SomaticCausalMutation ORPHANET