DisGeNET - a database of gene-disease associations

Source: HPO

Disease: Global developmental delay ×

Gene: ACTL6B ×

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:	51412
Gene Symbol:	ACTL6B

ACTL6B

actin like 6B

0.656

0.462

2.8E-04

CUI:	C0557874
Disease:	Global developmental delay

Global developmental delay

disease

0.410

strong

1.000

0

2019

2019