GLDC, glycine decarboxylase, 2731

N. diseases: 78; N. variants: 146
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833556
rs386833556
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.810 GeneticVariation BEFREE A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with nonketotic hyperglycinemia bearing the biallelic changes c.1742C > G (p.Pro581Arg) and c.2368C > T (p.Arg790Trp) in the GLDC gene. 31349202 2019
dbSNP: rs772871471
rs772871471
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.810 GeneticVariation BEFREE A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with nonketotic hyperglycinemia bearing the biallelic changes c.1742C > G (p.Pro581Arg) and c.2368C > T (p.Arg790Trp) in the GLDC gene. 31349202 2019
dbSNP: rs386833556
rs386833556
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.810 GeneticVariation UNIPROT Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. 28244183 2017
dbSNP: rs386833556
rs386833556
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		A 0.810 CausalMutation CLINVAR Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. 28244183 2017
dbSNP: rs386833556
rs386833556
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.810 GeneticVariation UNIPROT Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report. 28737873 2017
dbSNP: rs772871471
rs772871471
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.810 GeneticVariation UNIPROT Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. 28244183 2017
dbSNP: rs772871471
rs772871471
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.810 GeneticVariation UNIPROT Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report. 28737873 2017
dbSNP: rs386833556
rs386833556
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		A 0.810 CausalMutation CLINVAR Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patients. 15192636 2004
dbSNP: rs386833556
rs386833556
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.810 GeneticVariation UNIPROT Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. 11592811 2001
dbSNP: rs386833556
rs386833556
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.810 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
dbSNP: rs772871471
rs772871471
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.810 GeneticVariation UNIPROT Nonketotic hyperglycinemia (glycine encephalopathy): laboratory diagnosis. 11592811 2001
dbSNP: rs772871471
rs772871471
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.810 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
dbSNP: rs386833556
rs386833556
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.810 GeneticVariation UNIPROT Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. 1634607 1992
dbSNP: rs772871471
rs772871471
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.810 GeneticVariation UNIPROT Identification of a common mutation in Finnish patients with nonketotic hyperglycinemia. 1634607 1992
dbSNP: rs386833556
rs386833556
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.810 GeneticVariation UNIPROT Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia. 1996985 1991
dbSNP: rs772871471
rs772871471
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.810 GeneticVariation UNIPROT Structural and expression analyses of normal and mutant mRNA encoding glycine decarboxylase: three-base deletion in mRNA causes nonketotic hyperglycinemia. 1996985 1991
dbSNP: rs386833556
rs386833556
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		A 0.810 GeneticVariation CLINVAR
dbSNP: rs772871471
rs772871471
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		C 0.810 GeneticVariation CLINVAR
dbSNP: rs121964974
rs121964974
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
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
dbSNP: rs121964974
rs121964974
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.800 GeneticVariation UNIPROT Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report. 28737873 2017
dbSNP: rs121964976
rs121964976
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.800 GeneticVariation UNIPROT Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report. 28737873 2017
dbSNP: rs121964976
rs121964976
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		G 0.800 CausalMutation CLINVAR The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. 27362913 2017
dbSNP: rs121964976
rs121964976
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
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
dbSNP: rs150171524
rs150171524
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
CUI: C0751748
Disease:
Nonketotic Hyperglycinemia 		0.800 GeneticVariation UNIPROT Two novel mutations in the glycine decarboxylase gene in a boy with classic nonketotic hyperglycinemia: case report. 28737873 2017
dbSNP: rs150171524
rs150171524
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
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