L2HGDH, L-2-hydroxyglutarate dehydrogenase, 79944

N. diseases: 62; N. variants: 18
Disease: L-2-HYDROXYGLUTARIC ACIDURIA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555328749
rs1555328749
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA 		C 0.700 CausalMutation CLINVAR