rs118204020
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
0.800
GeneticVariation
UNIPROT
rs118204020
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
A
0.800
CausalMutation
CLINVAR
rs118204021
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
T
0.800
CausalMutation
CLINVAR
rs118204021
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
0.800
GeneticVariation
UNIPROT
rs267607206
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
C
0.800
CausalMutation
CLINVAR
rs970541687
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
0.710
GeneticVariation
UNIPROT
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
rs150299874
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
T
0.700
CausalMutation
CLINVAR
rs150299874
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
Spastic gait
T
0.700
CausalMutation
CLINVAR
rs150299874
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
Headache
T
0.700
CausalMutation
CLINVAR
rs1555328749
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
C
0.700
CausalMutation
CLINVAR
rs199690954
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
0.700
GeneticVariation
UNIPROT
rs387907013
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
A
0.700
CausalMutation
CLINVAR
rs750044734
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
0.700
GeneticVariation
UNIPROT
rs766538932
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
T
0.700
CausalMutation
CLINVAR
rs786200869
×
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
rs797045678
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
C
0.700
CausalMutation
CLINVAR
rs887386390
×
Entrez Id:
79944
Gene Symbol:
L2HGDH
L2HGDH
L-2-HYDROXYGLUTARIC ACIDURIA
C
0.700
GeneticVariation
CLINVAR
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
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
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
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
rs145390085
×
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