Gene: ATAD3A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		0.400 GeneticVariation disease CLINVAR We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307 2016
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		0.400 Biomarker disease GENOMICS_ENGLAND We identified a recurrent de novo ATAD3A c.1582C>T (p.Arg528Trp) variant by whole-exome sequencing (WES) in five unrelated individuals with a core phenotype of global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. 27640307 2016
Entrez Id: 55210
Gene Symbol: ATAD3A
ATAD3A 		0.400 Biomarker disease HPO