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: 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: rs387907013
rs387907013
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA
A 0.700 CausalMutation CLINVAR
dbSNP: rs750044734
rs750044734
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA
0.700 GeneticVariation UNIPROT
dbSNP: rs766538932
rs766538932
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA
T 0.700 CausalMutation CLINVAR
dbSNP: rs786200869
rs786200869
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA
C 0.700 CausalMutation CLINVAR
dbSNP: rs786200870
rs786200870
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA
A 0.700 CausalMutation CLINVAR
dbSNP: rs797045678
rs797045678
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA
C 0.700 CausalMutation CLINVAR
dbSNP: rs887386390
rs887386390
Entrez Id: 79944
Gene Symbol: L2HGDH
L2HGDH
CUI: C1855995
Disease:
L-2-HYDROXYGLUTARIC ACIDURIA
C 0.700 GeneticVariation CLINVAR