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: rs386833531
rs386833531
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		A 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs386833531
rs386833531
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		A 0.700 GeneticVariation CLINVAR Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. 17361008 2007
dbSNP: rs386833531
rs386833531
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		A 0.700 GeneticVariation CLINVAR Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. 16450403 2006
dbSNP: rs386833531
rs386833531
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		A 0.700 CausalMutation CLINVAR