DisGeNET - a database of gene-disease associations

Overgrowth, C1849265

Gene: ALDH5A1 ×

Source: CLINVAR ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs778127154

ALDH5A1

0.700

CausalMutation

CLINVAR

Acute Infantile Encephalopathy as Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

27268762

2016

dbSNP:

rs778127154

ALDH5A1

0.700

CausalMutation

CLINVAR

Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood.

26268900

2015

dbSNP:

rs778127154

ALDH5A1

0.700

CausalMutation

CLINVAR

Succinic semialdehyde dehydrogenase deficiency: lessons from mice and men.

19172412

2009

dbSNP:

rs778127154

ALDH5A1

0.700

CausalMutation

CLINVAR

Inherited disorders of neurotransmitters in children and adults.

16298354

2005

dbSNP:

rs778127154

ALDH5A1

0.700

CausalMutation

CLINVAR

Clinical spectrum of succinic semialdehyde dehydrogenase deficiency.

12743223

2003

dbSNP:

rs778127154

ALDH5A1

0.700

CausalMutation

CLINVAR

4-Hydroxybutyric aciduria.

7726383

1994