GLDC, glycine decarboxylase, 2731

N. diseases: 78; N. variants: 146
Disease: Nonketotic Hyperglycinemia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1163356968
rs1163356968
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		T 0.700 CausalMutation CLINVAR The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. 27362913 2017