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 |
CARDIOMYOPATHY, DILATED, 1O
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
De Novo Mutation in ABCC9 Causes Hypertrichosis Acromegaloid Facial Features Disorder.
|
26871653 |
2017 |
CARDIOMYOPATHY, DILATED, 1O
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.
|
25590979 |
2015 |
CARDIOMYOPATHY, DILATED, 1O
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ABCC9 is a novel Brugada and early repolarization syndrome susceptibility gene.
|
24439875 |
2014 |
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 |
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 |
CARDIOMYOPATHY, DILATED, 1O
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Cantú syndrome is caused by mutations in ABCC9.
|
22608503 |
2012 |
CARDIOMYOPATHY, DILATED, 1O
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Dominant missense mutations in ABCC9 cause Cantú syndrome.
|
22610116 |
2012 |
CARDIOMYOPATHY, DILATED, 1O
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Dominant missense mutations in ABCC9 cause Cantú syndrome.
|
22610116 |
2012 |
CARDIOMYOPATHY, DILATED, 1O
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Short QT syndrome.
|
16301704 |
2005 |
CARDIOMYOPATHY, DILATED, 1O
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.
|
15034580 |
2004 |
CARDIOMYOPATHY, DILATED, 1O
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.
|
15034580 |
2004 |
CARDIOMYOPATHY, DILATED, 1O
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|