Gene: ABCC9 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 23307537

2013
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR Cantú syndrome is caused by mutations in ABCC9. 22608503

2012
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116

2012
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR Cantú syndrome: report of nine new cases and expansion of the clinical phenotype. 21344641

2011
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 17245405

2007
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 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
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580

2004
dbSNP: rs1555179320
rs1555179320
ABCC9 ; LOC105369689
T 0.700 GeneticVariation CLINVAR Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome. 10398267

1999