SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
|
27523598 |
2016 |
SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
|
27523597 |
2016 |
SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
|
27523597 |
2016 |
SUDDEN CARDIAC FAILURE, INFANTILE
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
|
27523598 |
2016 |
SUDDEN CARDIAC FAILURE, INFANTILE
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy.
|
27523598 |
2016 |
SUDDEN CARDIAC FAILURE, INFANTILE
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
|
27523597 |
2016 |
SUDDEN CARDIAC FAILURE, INFANTILE
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
|
27523597 |
2016 |
SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
SUDDEN CARDIAC FAILURE, ALCOHOL-INDUCED
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
SUDDEN CARDIAC FAILURE, INFANTILE
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
SUDDEN CARDIAC FAILURE, INFANTILE
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
SUDDEN CARDIAC FAILURE, INFANTILE
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
SUDDEN CARDIAC FAILURE, INFANTILE
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Body Height
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.
|
29326435 |
2019 |
Finding of Mean Corpuscular Hemoglobin
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
|
29942086 |
2018 |
Intelligence
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
|
29844566 |
2018 |
Breast Carcinoma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Association analysis identifies 65 new breast cancer risk loci.
|
29059683 |
2017 |
Congestive heart failure
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Myocarditis
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Myocardial fibrosis
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Bradycardia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cardiomyopathies
|
0.020 |
Biomarker
|
group |
BEFREE |
PPA2 encodes a mitochondrially located inorganic pyrophosphatase implicated in progressive and lethal cardiomyopathies.
|
31705601 |
2020 |
Mitochondrial Diseases
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Altogether these data demonstrate that PPA2 is an essential gene in yeast and that biallelic mutations in PPA2 cause a mitochondrial disease leading to sudden cardiac arrest in infants.
|
27523598 |
2016 |