rs1126422, AMT

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
0.800 GeneticVariation CLINVAR Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. 28244183 2017
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.800 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
0.800 GeneticVariation UNIPROT Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. 28244183 2017
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.800 GeneticVariation UNIPROT A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy. 26371980 2016
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.800 GeneticVariation CLINVAR Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia. 26179960 2015
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.800 GeneticVariation UNIPROT Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia. 16051266 2005
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.800 GeneticVariation CLINVAR Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update. 15272469 2004
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.800 GeneticVariation UNIPROT Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). 11286506 2001
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.800 GeneticVariation UNIPROT Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. 10873393 2000
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.800 GeneticVariation UNIPROT A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia. 9621520 1998
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.800 GeneticVariation UNIPROT A missense mutation (His42Arg) in the T-protein gene from a large Israeli-Arab kindred with nonketotic hyperglycinemia. 9600239 1998
Nonketotic Hyperglycinemia
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
0.800 GeneticVariation UNIPROT Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia. 8005589 1994