rs386833521, 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 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.700 CausalMutation CLINVAR Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. 26179960 2015
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.700 CausalMutation 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 Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy. 16601880 2006