Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 Biomarker GENOMICS_ENGLAND Personalized medicine approach confirms a milder case of ABAT deficiency. 27903293

2016
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 Biomarker GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308

2016
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 Biomarker GENOMICS_ENGLAND The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism. 25738457

2015
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 Biomarker GENOMICS_ENGLAND In an effort to elucidate the molecular basis of GABA-T deficiency, we isolated and characterized a 1.5 kb cDNA encoding human GABA-T, in addition to a 41 kb genomic clone which encompassed the GABA-T coding region. 10407778

1999