DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: ATRIAL FIBRILLATION, FAMILIAL, 12 ×

Gene: ABCC9 ×

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:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C3279695
Disease:	ATRIAL FIBRILLATION, FAMILIAL, 12

ATRIAL FIBRILLATION, FAMILIAL, 12

0.700

Biomarker

GENOMICS_ENGLAND

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

27532257

2017

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C3279695
Disease:	ATRIAL FIBRILLATION, FAMILIAL, 12

ATRIAL FIBRILLATION, FAMILIAL, 12

0.700

Biomarker

GENOMICS_ENGLAND

ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.

24439875

2014

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C3279695
Disease:	ATRIAL FIBRILLATION, FAMILIAL, 12

ATRIAL FIBRILLATION, FAMILIAL, 12

0.700

Biomarker

GENOMICS_ENGLAND

Short QT syndrome.

16301704

2005

Entrez Id:	10060
Gene Symbol:	ABCC9

ABCC9

CUI:	C3279695
Disease:	ATRIAL FIBRILLATION, FAMILIAL, 12

ATRIAL FIBRILLATION, FAMILIAL, 12

0.700

Biomarker

GENOMICS_ENGLAND

ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.

15034580

2004