DisGeNET - a database of gene-disease associations

Source: GENOMICS_ENGLAND

Disease: Deafness, Autosomal Dominant 20 ×

Gene: ACTG1 ×

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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:	71
Gene Symbol:	ACTG1

ACTG1

actin gamma 1

0.477

0.846

4.8E-03

CUI:	C1858172
Disease:	Deafness, Autosomal Dominant 20

Deafness, Autosomal Dominant 20

disease

0.700

strong

1.000

0

1996

2014