rs386833524, GLDC

N. diseases: 1
Disease: Nonketotic Hyperglycinemia ×
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 The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. 27362913 2017
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 Nonketotic hyperglycinemia: proposal of a diagnostic and treatment strategy. 20691948 2010
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