DisGeNET - a database of gene-disease associations

ABCB11, ATP binding cassette subfamily B member 11, 8647

N. diseases: 126; N. variants: 82

Disease: Serum Alanine Aminotransferase Measurement ×

Variant: rs2241339 ×

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:

rs2241339

Entrez Id:	8647
Gene Symbol:	ABCB11

ABCB11

CUI:	C1883008
Disease:

Serum Alanine Aminotransferase Measurement

0.700

GeneticVariation

GWASCAT

Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

29403010

2018