rs1567312671, ABAT

N. diseases: 1
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gamma aminobutyric acid transaminase deficiency
CUI: C0342708
Disease: Gamma aminobutyric acid transaminase deficiency
0.700 CausalMutation CLINVAR 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis. 31133775 2019