Source: ORPHANET

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 GermlineCausalMutation ORPHANET 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
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
Gamma aminobutyric acid transaminase deficiency 		0.700 GermlineCausalMutation ORPHANET Identification of a familial mutation associated with GABA-transaminase deficiency disease. 9746906

1998