DisGeNET - a database of gene-disease associations

PAFAH1B1, platelet activating factor acetylhydrolase 1b regulatory subunit 1, 5048

N. diseases: 219; N. variants: 103

Disease: Classical Lissencephaly ×

Variant: rs121434489 ×

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:

rs121434489

rs121434489

Entrez Id:	5048
Gene Symbol:	PAFAH1B1

PAFAH1B1

CUI:	C0431375
Disease:

Classical Lissencephaly

T

0.700

CausalMutation

CLINVAR