DisGeNET - a database of gene-disease associations

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

N. diseases: 715; N. variants: 92

Disease: Cutaneous Mastocytosis ×

Variant: rs121913517 ×

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:

rs121913517

rs121913517

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C1136033
Disease:

Cutaneous Mastocytosis

C

0.700

CausalMutation

CLINVAR