rs970541687
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
0.710
GeneticVariation
BEFREE
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria .
24573090
2014
rs970541687
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
0.710
GeneticVariation
UNIPROT
rs970541687
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
Combined D-2- and L-2-hydroxyglutaric aciduria
0.010
GeneticVariation
BEFREE
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria .
24573090
2014
rs937345512
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
A
0.700
CausalMutation
CLINVAR
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
16134148
2005
rs887386390
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
C
0.700
GeneticVariation
CLINVAR
rs887386390
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
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
rs887386390
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
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
rs797045678
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
C
0.700
CausalMutation
CLINVAR
rs786200870
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
A
0.700
CausalMutation
CLINVAR
rs786200869
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
C
0.700
CausalMutation
CLINVAR
rs766538932
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
T
0.700
CausalMutation
CLINVAR
rs750044734
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
0.700
GeneticVariation
UNIPROT
rs72683923
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
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
rs72683923
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
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
rs72683923
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
Glomerular Filtration Rate
C
0.700
GeneticVariation
GWASCAT
Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis.
31015462
2019
rs72683923
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
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
rs387907013
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
A
0.700
CausalMutation
CLINVAR
rs267607206
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
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
rs267607206
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
0.800
GeneticVariation
UNIPROT
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
16134148
2005
rs267607206
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
C
0.800
CausalMutation
CLINVAR
rs267607206
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
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
rs199690954
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
0.700
GeneticVariation
UNIPROT
rs1555328749
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
C
0.700
CausalMutation
CLINVAR
rs150299874
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
Postural instability
T
0.700
CausalMutation
CLINVAR
rs150299874
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
Ataxia, Appendicular
T
0.700
CausalMutation
CLINVAR