Gene: D2HGDH

Alternate names for this Gene: D2HGD

Gene Summary: This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.3

Description of this Gene: D-2-hydroxyglutarate dehydrogenase

Type of Gene: protein-coding

rs34290285 in D2HGDH gene and Adult onset asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

rs34290285 in D2HGDH gene and Allergic Reaction PMID 29083406 2017 Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology.

PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

rs34290285 in D2HGDH gene and Asthma PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 29785011 2018 A genome-wide cross-trait analysis from UK Biobank highlights the shared genetic architecture of asthma and allergic diseases.

PMID 30552067 2019 Moderate-to-severe asthma in individuals of European ancestry: a genome-wide association study.

PMID 31619474 2019 Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis.

PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

rs34290285 in D2HGDH gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs34290285 in D2HGDH gene and Childhood asthma PMID 30929738 2019 Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct.

PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.

rs121434360 in D2HGDH gene and D-2-HYDROXYGLUTARIC ACIDURIA 1 PMID 15609246 2005 Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

PMID 16081310 2006 Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

PMID 16037974 2005 Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.

PMID 20020533 2010 Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.

PMID 21384162 2011 Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria.

rs34290285 in D2HGDH gene and Eczema PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs34290285 in D2HGDH gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs34290285 in D2HGDH gene and Respiratory Tract Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.