DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Global developmental delay ×

Gene: PAFAH1B1 ×

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

Gene

Gene Full Name

DSI _g

DPI _g

pLI

Disease

Type

Score _gda

EL_gda

EI _gda

N.PMIDs

N.SNPs _gda

First Ref.

LastRef.

Entrez Id:	5048
Gene Symbol:	PAFAH1B1

PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1

0.504

0.769

1.00

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

disease

0.140

None

1.000

0

1999

2012