DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Global developmental delay ×

Gene: AP4S1 ×

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:	11154
Gene Symbol:	AP4S1

AP4S1

adaptor related protein complex 4 subunit sigma 1

0.674

0.385

1.7E-06

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

disease

0.400

None

1.000

0

2015

2015