GCDH, glutaryl-CoA dehydrogenase, 2639
N. diseases: 72; N. variants: 121
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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0.810 | GeneticVariation | UNIPROT | Molecular analysis of Cypriot patients with Glutaric aciduria type I: identification of two novel mutations. | 24973495 | 2014 | |||||||
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0.810 | GeneticVariation | UNIPROT | Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). | 18775954 | 2008 | |||||||
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0.810 | GeneticVariation | BEFREE | The sibling with GA1 was homozygous whilst his siblings with D-2-HGA were heterozygous for a 1283 C>T missense mutation (T416I) in exon 11 of the GCDH gene. | 15248096 | 2004 | |||||||
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0.810 | GeneticVariation | UNIPROT | Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I. | 14707522 | 2003 | |||||||
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0.810 | GeneticVariation | UNIPROT | The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. | 9600243 | 1998 | |||||||
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0.810 | GeneticVariation | UNIPROT | Glutaric aciduria type I in the Arab and Jewish communities in Israel. | 8900228 | 1996 | |||||||
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0.810 | GeneticVariation | UNIPROT | Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. | 8900227 | 1996 | |||||||
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0.810 | GeneticVariation | UNIPROT | Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli. | 8541831 | 1995 | |||||||
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T | 0.810 | CausalMutation | CLINVAR |