DisGeNET - a database of gene-disease associations

BLK, BLK proto-oncogene, Src family tyrosine kinase, 640

N. diseases: 86; N. variants: 57

Disease: Thromboangiitis Obliterans ×

Variant: rs11250144 ×

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:

rs11250144

Entrez Id:	640
Gene Symbol:	BLK

BLK

CUI:	C0040021
Disease:

Thromboangiitis Obliterans

0.010

GeneticVariation

BEFREE

Besides, allele C in rs11250144 was correlated with thyroid-associated ophthalmopathy (TAO).

30351170

2018