Disease: succinic semialdehyde dehydrogenase deficiency ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118203984
rs118203984
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs118203984
rs118203984
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs375628463
rs375628463
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs765561257
rs765561257
Entrez Id: 2822;7915
Gene Symbol: GPLD1;ALDH5A1
GPLD1;ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.800 GeneticVariation UNIPROT Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. 23519317 2013
dbSNP: rs118203984
rs118203984
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs118203984
rs118203984
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs375628463
rs375628463
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs765561257
rs765561257
Entrez Id: 2822;7915
Gene Symbol: GPLD1;ALDH5A1
GPLD1;ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs118203984
rs118203984
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs765561257
rs765561257
Entrez Id: 2822;7915
Gene Symbol: GPLD1;ALDH5A1
GPLD1;ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs118203984
rs118203984
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs375628463
rs375628463
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs765561257
rs765561257
Entrez Id: 2822;7915
Gene Symbol: GPLD1;ALDH5A1
GPLD1;ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs375628463
rs375628463
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs765561257
rs765561257
Entrez Id: 2822;7915
Gene Symbol: GPLD1;ALDH5A1
GPLD1;ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		T 0.800 CausalMutation CLINVAR
dbSNP: rs118203982
rs118203982
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		A 0.700 CausalMutation CLINVAR Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency. 26964512 2019
dbSNP: rs118203982
rs118203982
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		A 0.700 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
dbSNP: rs145087265
rs145087265
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.700 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
dbSNP: rs72552281
rs72552281
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.700 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
dbSNP: rs72552282
rs72552282
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.700 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
dbSNP: rs72552283
rs72552283
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.700 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
dbSNP: rs72552284
rs72552284
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.700 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
dbSNP: rs145087265
rs145087265
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.700 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
dbSNP: rs72552281
rs72552281
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.700 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
dbSNP: rs72552282
rs72552282
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		0.700 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