DisGeNET - a database of gene-disease associations

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

N. diseases: 219; N. variants: 103

Disease: Subcortical Band Heterotopia ×

Variant: rs121434488 ×

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:

rs121434488

Entrez Id:	5048
Gene Symbol:	PAFAH1B1

PAFAH1B1

CUI:	C1848201
Disease:

Subcortical Band Heterotopia

0.710

GeneticVariation

BEFREE

The two patients with posterior SBH harbored a missense (Arg241Pro) and a nonsense (R8X) mosaic mutation of LIS1.

14581661

2003

dbSNP:

rs121434488

Entrez Id:	5048
Gene Symbol:	PAFAH1B1

PAFAH1B1

CUI:	C1848201
Disease:

Subcortical Band Heterotopia

0.710

CausalMutation

CLINVAR