Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 GeneticVariation disease UNIPROT Cantú syndrome is caused by mutations in ABCC9. 22608503 2012
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 GermlineCausalMutation disease ORPHANET Cantú syndrome is caused by mutations in ABCC9. 22608503 2012
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 Biomarker disease BEFREE Given the availability of ABCC9 antagonists, our findings may have direct implications for the treatment of individuals with Cantú syndrome. 22610116 2012
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 Biomarker disease CLINGEN Unique properties of the ATP-sensitive K⁺ channel in the mouse ventricular cardiac conduction system. 21984445 2011
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 Biomarker disease CLINGEN Cloning, tissue expression, and chromosomal localization of SUR2, the putative drug-binding subunit of cardiac, skeletal muscle, and vascular KATP channels. 8826984 1996
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 Biomarker disease CLINGEN A family of sulfonylurea receptors determines the pharmacological properties of ATP-sensitive K+ channels. 8630239 1996
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0795905
Disease: Cantu syndrome
Cantu syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 CausalMutation disease CLINVAR De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder. 26871653 2017
CUI: C3279695
Disease: ATRIAL FIBRILLATION, FAMILIAL, 12
ATRIAL FIBRILLATION, FAMILIAL, 12 		0.700 Biomarker disease GENOMICS_ENGLAND Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 GeneticVariation disease CLINVAR Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios. 25590979 2015
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 Biomarker disease GENOMICS_ENGLAND ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene. 24439875 2014
CUI: C3279695
Disease: ATRIAL FIBRILLATION, FAMILIAL, 12
ATRIAL FIBRILLATION, FAMILIAL, 12 		0.700 Biomarker disease GENOMICS_ENGLAND ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene. 24439875 2014
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 GeneticVariation disease CLINVAR Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 23307537 2013
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 CausalMutation disease CLINVAR Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9. 23307537 2013
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 CausalMutation disease CLINVAR Cantú syndrome is caused by mutations in ABCC9. 22608503 2012
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 CausalMutation disease CLINVAR Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116 2012
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 GeneticVariation disease CLINVAR Dominant missense mutations in ABCC9 cause Cantú syndrome. 22610116 2012
CUI: C3279695
Disease: ATRIAL FIBRILLATION, FAMILIAL, 12
ATRIAL FIBRILLATION, FAMILIAL, 12 		0.700 GeneticVariation disease UNIPROT KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation. 17245405 2007
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C3279695
Disease: ATRIAL FIBRILLATION, FAMILIAL, 12
ATRIAL FIBRILLATION, FAMILIAL, 12 		0.700 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 Biomarker disease GENOMICS_ENGLAND ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580 2004
CUI: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 GeneticVariation disease UNIPROT ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580 2004
CUI: C3279695
Disease: ATRIAL FIBRILLATION, FAMILIAL, 12
ATRIAL FIBRILLATION, FAMILIAL, 12 		0.700 Biomarker disease GENOMICS_ENGLAND ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating. 15034580 2004