DisGeNET - a database of gene-disease associations

ALDH18A1, aldehyde dehydrogenase 18 family member A1, 5832

N. diseases: 206; N. variants: 22

Disease: Microcephaly (physical finding) ×

Variant: rs863225045 ×

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:

rs863225045

rs863225045

Entrez Id:	5832
Gene Symbol:	ALDH18A1

ALDH18A1

CUI:	C4551563
Disease:

Microcephaly (physical finding)

A

0.700

CausalMutation

CLINVAR