rs375628463
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.800
GeneticVariation
CLINVAR
rs765561257
GPLD1;ALDH5A1
succinic semialdehyde dehydrogenase deficiency
T
0.800
CausalMutation
CLINVAR
rs118203983
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
T
0.700
CausalMutation
CLINVAR
rs1301821497
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
G
0.700
CausalMutation
CLINVAR
rs1326526453
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
rs1561865665
GPLD1;ALDH5A1
succinic semialdehyde dehydrogenase deficiency
T
0.700
CausalMutation
CLINVAR
rs1561872640
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.700
CausalMutation
CLINVAR
rs1561879380
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.700
CausalMutation
CLINVAR
rs1561879380
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
T
0.700
CausalMutation
CLINVAR
rs778127154
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
C
0.700
CausalMutation
CLINVAR
rs875989801
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
TT
0.700
CausalMutation
CLINVAR
rs778127154
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
Movement Disorders
C
0.700
CausalMutation
CLINVAR
4-Hydroxybutyric aciduria.
7726383
1994
rs778127154
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
4-Hydroxybutyric aciduria.
7726383
1994
rs778127154
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
Overgrowth
C
0.700
CausalMutation
CLINVAR
4-Hydroxybutyric aciduria.
7726383
1994
rs118203984
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
11243727
2001
rs375628463
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.800
CausalMutation
CLINVAR
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
11243727
2001
rs765561257
GPLD1;ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
11243727
2001
rs118203982
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.700
CausalMutation
CLINVAR
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
11243727
2001
rs145087265
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
11243727
2001
rs72552281
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
11243727
2001
rs72552282
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
11243727
2001
rs72552283
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
11243727
2001
rs72552284
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.700
GeneticVariation
UNIPROT
Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses.
11243727
2001
rs118203984
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.
11901270
2002
rs765561257
GPLD1;ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene.
11901270
2002