DisGeNET - a database of gene-disease associations

ALDH18A1, aldehyde dehydrogenase 18 family member A1, 5832

N. diseases: 206; N. variants: 22

Disease: Metabolic Diseases ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C0025517
Disease:	Metabolic Diseases

Metabolic Diseases

0.010

AlteredExpression

group

BEFREE

The deficiency of P5CS activity in humans is associated with a rare, inherited metabolic disease.

2010