Gamma aminobutyric acid transaminase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Gamma aminobutyric acid transaminase deficiency | C0342708 | ABAT | Causal Pathogenic evidence from ClinVar | 9746906, 10407778, 20052547, 25738457, 27604308, 27903293, 31133775 | ClinVar |
| TMEM186 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 20052547, 27903293, 31133775 | - | ||
| Gamma-aminobutyric acid transaminase deficiency | 2066 | ABAT | Causal Pathogenic evidence from ClinVar | - | ClinVar |