×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Telangiectasia macularis eruptiva perstans
0.400
GermlineCausalMutation
ORPHANET
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
0.310
SomaticCausalMutation
ORPHANET
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Smoldering Systemic Mastocytosis
0.300
SomaticCausalMutation
ORPHANET
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Isolated bone marrow mastocytosis
0.300
SomaticCausalMutation
ORPHANET
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
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
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
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
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
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
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
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
Piebaldism
1.000
GermlineCausalMutation
ORPHANET
Piebaldism.
22670867
2013
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
Gastrointestinal Stromal Tumors
1.000
SomaticCausalMutation
ORPHANET
A minority (10-15%) of GIST s in adults, along with ∼85% of pediatric GIST s, lacks oncogenic mutations in KIT and PDGFRA.
23730622
2013
×
Entrez Id:
3815
Gene Symbol:
KIT
KIT
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
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
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
Piebaldism
1.000
GermlineCausalMutation
ORPHANET
A novel mutation of KIT gene results in piebaldism in a Chinese family.
25199540
2016