DisGeNET - a database of gene-disease associations

KIT, KIT proto-oncogene, receptor tyrosine kinase, 3815

N. diseases: 715; N. variants: 92

Disease: Gastrointestinal Stromal Tumors ×

Variant: rs1060502543 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1060502543

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C0238198
Disease:

Gastrointestinal Stromal Tumors

0.700

CausalMutation

CLINVAR

Familial gastrointestinal stromal tumor syndrome: report of 2 cases with KIT exon 11 mutation.

25504284

2015

dbSNP:

rs1060502543

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C0238198
Disease:

Gastrointestinal Stromal Tumors

0.700

CausalMutation

CLINVAR

Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumor.

17943734

2008

dbSNP:

rs1060502543

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C0238198
Disease:

Gastrointestinal Stromal Tumors

0.700

CausalMutation

CLINVAR

A new familial GIST identified.

17001171

2006

dbSNP:

rs1060502543

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C0238198
Disease:

Gastrointestinal Stromal Tumors

0.700

CausalMutation

CLINVAR

Analysis of KIT mutations in sporadic and familial gastrointestinal stromal tumors: therapeutic implications through protein modeling.

15897563

2005

dbSNP:

rs1060502543

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C0238198
Disease:

Gastrointestinal Stromal Tumors

0.700

CausalMutation

CLINVAR

A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors.

9797363

1998