Disease: CARDIOMYOPATHY, DILATED, 1O ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		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: C1837839
Disease: CARDIOMYOPATHY, DILATED, 1O
CARDIOMYOPATHY, DILATED, 1O 		0.700 Biomarker disease CTD_human