DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Piebaldism ×

Gene: KIT ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

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.

2016

Entrez Id:	3815
Gene Symbol:	KIT

KIT

CUI:	C0080024
Disease:	Piebaldism

Piebaldism

1.000

GermlineCausalMutation

ORPHANET

Piebaldism.

2013