rs386833553, GLDC

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.700 GeneticVariation CLINVAR Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. 26179960 2015
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.700 GeneticVariation CLINVAR A novel missense mutation in a neonate with nonketotic hyperglycinemia. 20933183 2010
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.700 GeneticVariation CLINVAR Genomic deletion within GLDC is a major cause of non-ketotic hyperglycinaemia. 17361008 2007
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.700 GeneticVariation CLINVAR Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy. 16601880 2006
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.700 GeneticVariation CLINVAR Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. 16450403 2006
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.700 CausalMutation CLINVAR