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: C0035372
Disease:
Rett Syndrome 		0.010 GeneticVariation BEFREE The proband was compound heterozygous for pathogenic ALDH5A1 mutations (p.(Asn418IlefsTer39); maternal; p.(Gly409Asp); paternal) and a de novo RTT nonsense mutation in MECP2 (p.Arg255*). 30829465 2019
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 		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: 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: 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: 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 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: 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 Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses. 11243727 2001
dbSNP: rs118203983
rs118203983
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1301821497
rs1301821497
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1561865665
rs1561865665
Entrez Id: 2822;7915
Gene Symbol: GPLD1;ALDH5A1
GPLD1;ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1561872640
rs1561872640
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1561879380
rs1561879380
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1561879380
rs1561879380
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		T 0.700 CausalMutation CLINVAR
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. 27268762 2016
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. 27268762 2016
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. 26268900 2015
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. 26268900 2015
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR 4-Hydroxybutyric aciduria. 7726383 1994
dbSNP: rs778127154
rs778127154
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1
CUI: C0026827
Disease:
Muscle hypotonia 		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: C0268631
Disease:
succinic semialdehyde dehydrogenase deficiency 		C 0.700 CausalMutation CLINVAR
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: C1849265
Disease:
Overgrowth 		C 0.700 CausalMutation CLINVAR Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency. 27268762 2016