Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR 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: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116

2012
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Cantú syndrome is caused by mutations in ABCC9. 22608503

2012
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. 21344641

2011
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 17245405

2007
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations. 16835932

2006
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580

2004
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 GeneticVariation CLINVAR Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 10398267

1999