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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C | 0.700 | CausalMutation | CLINVAR | Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. | 27672653 | 2019 | ||||||
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G | 0.700 | GeneticVariation | CLINVAR | Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. | 25256449 | 2015 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. | 25256449 | 2015 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1. | 21176883 | 2011 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Glutaric aciduria type I: outcome following detection by newborn screening. | 18683078 | 2008 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Genetic and biochemical study in a patient with glutaric acidemia type I. | 15318278 | 2004 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. | 15505393 | 2004 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Novel mutation and prenatal sonographic findings of glutaric aciduria (type I) in two Taiwanese families. | 12210585 | 2002 | ||||||
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C | 0.700 | CausalMutation | CLINVAR | Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. | 11058907 | 2000 |