rs118203984
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.800
CausalMutation
CLINVAR
SSADH deficiency in an Italian family: a novel ALDH5A1 gene mutation affecting the succinic semialdehyde substrate binding site.
28664505
2017
rs118203984
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
23519317
2013
rs375628463
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
23519317
2013
rs765561257
GPLD1;ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
23519317
2013
rs118203984
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.800
CausalMutation
CLINVAR
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
14635103
2003
rs118203984
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
14635103
2003
rs375628463
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.800
CausalMutation
CLINVAR
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
14635103
2003
rs765561257
GPLD1;ALDH5A1
succinic semialdehyde dehydrogenase deficiency
0.800
GeneticVariation
UNIPROT
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.
14635103
2003
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
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
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
rs116417499
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
Crohn Disease
A
0.700
GeneticVariation
GWASCAT
The Unsolved Link of Genetic Markers and Crohn's Disease Progression: A North American Cohort Experience.
30801121
2019
rs118203982
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
succinic semialdehyde dehydrogenase deficiency
A
0.700
CausalMutation
CLINVAR
Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency.
26964512
2019
rs150674717
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
Alkaline phosphatase measurement
0.700
GeneticVariation
GWASCAT
Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
29403010
2018
rs778127154
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.
27268762
2016
rs778127154
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
Movement Disorders
C
0.700
CausalMutation
CLINVAR
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.
27268762
2016
rs778127154
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
Overgrowth
C
0.700
CausalMutation
CLINVAR
Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.
27268762
2016
rs778127154
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
Overgrowth
C
0.700
CausalMutation
CLINVAR
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.
26268900
2015
rs778127154
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
Movement Disorders
C
0.700
CausalMutation
CLINVAR
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.
26268900
2015
rs778127154
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.
26268900
2015
rs778127154
×
Entrez Id:
7915
Gene Symbol:
ALDH5A1
ALDH5A1
Muscle hypotonia
C
0.700
CausalMutation
CLINVAR
Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.
19172412
2009