L2HGDH, L-2-hydroxyglutarate dehydrogenase, 79944

N. diseases: 62; N. variants: 18
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1025426883
rs1025426883
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C0268595
Disease:
Glutaric aciduria, type 1 		0.010 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
dbSNP: rs1025426883
rs1025426883
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C3152055
Disease:
D-2-HYDROXYGLUTARIC ACIDURIA 1 		0.010 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
dbSNP: rs118204020
rs118204020
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA 		0.800 GeneticVariation UNIPROT
dbSNP: rs118204020
rs118204020
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA 		A 0.800 CausalMutation CLINVAR
dbSNP: rs118204021
rs118204021
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA 		T 0.800 CausalMutation CLINVAR
dbSNP: rs118204021
rs118204021
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA 		0.800 GeneticVariation UNIPROT
dbSNP: rs145390085
rs145390085
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1096063
Disease:
Drug Resistant Epilepsy 		0.010 GeneticVariation BEFREE A genotype-first approach of the whole exome sequence was used to identify compound heterozygous mutations, c.584A>G (p.Y195C) and c.772T>C (p.C258R), in L2HGDH, the gene responsible for this disorder, in an adult patient with intellectual disability and intractable epilepsy. 25982940 2016
dbSNP: rs145390085
rs145390085
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE A genotype-first approach of the whole exome sequence was used to identify compound heterozygous mutations, c.584A>G (p.Y195C) and c.772T>C (p.C258R), in L2HGDH, the gene responsible for this disorder, in an adult patient with intellectual disability and intractable epilepsy. 25982940 2016
dbSNP: rs150299874
rs150299874
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1843921
Disease:
Postural instability 		T 0.700 CausalMutation CLINVAR
dbSNP: rs150299874
rs150299874
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C0750937
Disease:
Ataxia, Appendicular 		T 0.700 CausalMutation CLINVAR
dbSNP: rs150299874
rs150299874
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA 		T 0.700 CausalMutation CLINVAR
dbSNP: rs150299874
rs150299874
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C0231687
Disease:
Spastic gait 		T 0.700 CausalMutation CLINVAR
dbSNP: rs150299874
rs150299874
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C0018681
Disease:
Headache 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555328749
rs1555328749
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA 		C 0.700 CausalMutation CLINVAR
dbSNP: rs199690954
rs199690954
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA 		0.700 GeneticVariation UNIPROT
dbSNP: rs267607206
rs267607206
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA 		0.800 GeneticVariation UNIPROT L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. 15385440 2004
dbSNP: rs267607206
rs267607206
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA 		0.800 GeneticVariation UNIPROT Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. 16134148 2005
dbSNP: rs267607206
rs267607206
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA 		C 0.800 CausalMutation CLINVAR
dbSNP: rs267607206
rs267607206
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA 		0.800 GeneticVariation UNIPROT A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. 15548604 2004
dbSNP: rs387907013
rs387907013
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA 		A 0.700 CausalMutation CLINVAR
dbSNP: rs72683923
rs72683923
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program. 31451708 2019
dbSNP: rs72683923
rs72683923
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs72683923
rs72683923
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C0017654
Disease:
Glomerular Filtration Rate 		C 0.700 GeneticVariation GWASCAT Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis. 31015462 2019
dbSNP: rs72683923
rs72683923
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C0017654
Disease:
Glomerular Filtration Rate 		T 0.700 GeneticVariation GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
dbSNP: rs750044734
rs750044734
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA 		0.700 GeneticVariation UNIPROT