DisGeNET - a database of gene-disease associations

ALDH5A1, aldehyde dehydrogenase 5 family member A1, 7915

N. diseases: 83; N. variants: 19

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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:

rs116417499

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C0010346
Disease:

Crohn Disease

0.700

GeneticVariation

GWASCAT

The Unsolved Link of Genetic Markers and Crohn's Disease Progression: A North American Cohort Experience.

30801121

2019

dbSNP:

rs118203982

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C0268631
Disease:

succinic semialdehyde dehydrogenase deficiency

0.700

CausalMutation

CLINVAR

Psychomotor delay, hypotonia, and behavioural disorders: A case of succinic semialdehyde dehydrogenase deficiency.

26964512

2019

dbSNP:

rs150674717

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C0201850
Disease:

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

dbSNP:

rs778127154

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

27268762

2016

dbSNP:

rs778127154

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

27268762

2016

dbSNP:

rs778127154

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C1849265
Disease:

Overgrowth

0.700

CausalMutation

CLINVAR

Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

27268762

2016

dbSNP:

rs778127154

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C1849265
Disease:

Overgrowth

0.700

CausalMutation

CLINVAR

Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

26268900

2015

dbSNP:

rs778127154

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

26268900

2015

dbSNP:

rs778127154

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

26268900

2015

dbSNP:

rs778127154

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

19172412

2009

dbSNP:

rs778127154

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

19172412

2009

dbSNP:

rs778127154

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C1849265
Disease:

Overgrowth

0.700

CausalMutation

CLINVAR

Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

19172412

2009

dbSNP:

rs778127154

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C1849265
Disease:

Overgrowth

0.700

CausalMutation

CLINVAR

Inherited disorders of neurotransmitters in children and adults.

16298354

2005

dbSNP:

rs778127154

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Inherited disorders of neurotransmitters in children and adults.

16298354

2005

dbSNP:

rs778127154

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Inherited disorders of neurotransmitters in children and adults.

16298354

2005

dbSNP:

rs118203982

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C0268631
Disease:

succinic semialdehyde dehydrogenase deficiency

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

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

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

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

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

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

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C1849265
Disease:

Overgrowth

0.700

CausalMutation

CLINVAR

Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

12743223

2003

dbSNP:

rs778127154

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C0026650
Disease:

Movement Disorders

0.700

CausalMutation

CLINVAR

Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

12743223

2003

dbSNP:

rs778127154

Entrez Id:	7915
Gene Symbol:	ALDH5A1

ALDH5A1

CUI:	C0026827
Disease:

Muscle hypotonia

0.700

CausalMutation

CLINVAR

Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

12743223

2003