DisGeNET - a database of gene-disease associations

ABCG5, ATP binding cassette subfamily G member 5, 64240

N. diseases: 108; N. variants: 15

Disease: Coronary Arteriosclerosis ×

Source: ALL

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

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0010054
Disease:	Coronary Arteriosclerosis

Coronary Arteriosclerosis

0.410

GeneticVariation

disease

BEFREE

ABCG5/8 variants are associated with susceptibility to coronary heart disease.

24691589

2014

CUI:	C0010054
Disease:	Coronary Arteriosclerosis

Coronary Arteriosclerosis

0.410

Biomarker

disease

CTD_human

Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

11138003

2001

CUI:	C0010054
Disease:	Coronary Arteriosclerosis

Coronary Arteriosclerosis

0.410

Biomarker

disease

CTD_human

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.

11099417

2000

CUI:	C0010054
Disease:	Coronary Arteriosclerosis

Coronary Arteriosclerosis

0.410

Biomarker

disease

HPO