Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 GermlineCausalMutation ORPHANET Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116

2012
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 GermlineCausalMutation ORPHANET Cantú syndrome is caused by mutations in ABCC9. 22608503

2012
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder) 		0.510 GermlineCausalMutation ORPHANET ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene. 24439875

2014
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0796280
Disease: Acromegaloid facial appearance syndrome
Acromegaloid facial appearance syndrome 		0.300 GermlineCausalMutation ORPHANET Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 23307537

2013
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1843687
Disease: ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) 		0.300 GeneticVariation ORPHANET KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 17245405

2007
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		0.300 GermlineCausalMutation ORPHANET ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580

2004