ABAT, 4-aminobutyrate aminotransferase, 18

N. diseases: 72; N. variants: 20
Disease: Hyperreflexia ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs724159991
rs724159991
Entrez Id: 18;25880
Gene Symbol: ABAT;TMEM186
ABAT;TMEM186
CUI: C0151889
Disease:
Hyperreflexia 		C 0.700 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547 2010