Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. 19172412 2009
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men. 19172412 2009
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR Inherited disorders of neurotransmitters in children and adults. 16298354 2005
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Inherited disorders of neurotransmitters in children and adults. 16298354 2005
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Inherited disorders of neurotransmitters in children and adults. 16298354 2005
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: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. 12743223 2003
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. 12743223 2003
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. 12743223 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
dbSNP: rs72552283
rs72552283
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: rs72552284
rs72552284
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: rs118203982
rs118203982
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs145087265
rs145087265
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs72552281
rs72552281
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs72552282
rs72552282
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs72552283
rs72552283
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
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
dbSNP: rs72552284
rs72552284
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
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