DisGeNET - a database of gene-disease associations

ACTG1, actin gamma 1, 71

N. diseases: 291; N. variants: 20

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:

rs11549190

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C3281235
Disease:

BARAITSER-WINTER SYNDROME 2

0.800

CausalMutation

CLINVAR

Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

25052316

2015

dbSNP:

rs104894544

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

25388789

2014

dbSNP:

rs104894545

Entrez Id:	71
Gene Symbol:	ACTG1

ACTG1

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

25388789

2014

dbSNP:

rs104894546

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

25388789

2014

dbSNP:

rs104894547

Entrez Id:	71
Gene Symbol:	ACTG1

ACTG1

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

25388789

2014

dbSNP:

rs28999111

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

25388789

2014

dbSNP:

rs28999112

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

25388789

2014

dbSNP:

rs104894544

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

22938506

2012

dbSNP:

rs104894545

Entrez Id:	71
Gene Symbol:	ACTG1

ACTG1

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

22938506

2012

dbSNP:

rs104894546

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

22938506

2012

dbSNP:

rs104894547

Entrez Id:	71
Gene Symbol:	ACTG1

ACTG1

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

22938506

2012

dbSNP:

rs281875325

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C3281235
Disease:

BARAITSER-WINTER SYNDROME 2

0.800

GeneticVariation

UNIPROT

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

22366783

2012

dbSNP:

rs281875326

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C3281235
Disease:

BARAITSER-WINTER SYNDROME 2

0.800

GeneticVariation

UNIPROT

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

22366783

2012

dbSNP:

rs281875327

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C3281235
Disease:

BARAITSER-WINTER SYNDROME 2

0.800

GeneticVariation

UNIPROT

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

22366783

2012

dbSNP:

rs281875328

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C3281235
Disease:

BARAITSER-WINTER SYNDROME 2

0.800

GeneticVariation

UNIPROT

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

22366783

2012

dbSNP:

rs281875329

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C3281235
Disease:

BARAITSER-WINTER SYNDROME 2

0.800

GeneticVariation

UNIPROT

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

22366783

2012

dbSNP:

rs28999111

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

22938506

2012

dbSNP:

rs28999112

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families.

22938506

2012

dbSNP:

rs104894544

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

19477959

2009

dbSNP:

rs104894545

Entrez Id:	71
Gene Symbol:	ACTG1

ACTG1

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

19477959

2009

dbSNP:

rs104894546

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

19477959

2009

dbSNP:

rs104894547

Entrez Id:	71
Gene Symbol:	ACTG1

ACTG1

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

19477959

2009

dbSNP:

rs28999111

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

19477959

2009

dbSNP:

rs28999112

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment.

19477959

2009

dbSNP:

rs104894544

Entrez Id:	71;25794
Gene Symbol:	ACTG1;FSCN2

ACTG1;FSCN2

CUI:	C1858172
Disease:

Deafness, Autosomal Dominant 20

0.800

GeneticVariation

UNIPROT

Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family.

18804074

2008