DisGeNET - a database of gene-disease associations

Deafness, Autosomal Dominant 20, C1858172

Gene: ACTG1 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894544

ACTG1 ; FSCN2

0.800

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs104894545

ACTG1

0.800

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs104894546

ACTG1 ; FSCN2

0.800

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs104894547

ACTG1

0.800

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs28999111

ACTG1 ; FSCN2

0.800

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs28999112

ACTG1 ; FSCN2

0.800

GeneticVariation

UNIPROT

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

25388789

2014

dbSNP:

rs104894544

ACTG1 ; FSCN2

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

ACTG1

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

ACTG1 ; FSCN2

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

ACTG1

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:

rs28999111

ACTG1 ; FSCN2

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

ACTG1 ; FSCN2

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

ACTG1 ; FSCN2

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

ACTG1

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

ACTG1 ; FSCN2

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

ACTG1

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

ACTG1 ; FSCN2

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

ACTG1 ; FSCN2

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

ACTG1 ; FSCN2

0.800

GeneticVariation

UNIPROT

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

18804074

2008

dbSNP:

rs104894545

ACTG1

0.800

GeneticVariation

UNIPROT

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

18804074

2008

dbSNP:

rs104894546

ACTG1 ; FSCN2

0.800

GeneticVariation

UNIPROT

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

18804074

2008

dbSNP:

rs104894547

ACTG1

0.800

GeneticVariation

UNIPROT

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

18804074

2008

dbSNP:

rs28999111

ACTG1 ; FSCN2

0.800

GeneticVariation

UNIPROT

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

18804074

2008

dbSNP:

rs28999112

ACTG1 ; FSCN2

0.800

GeneticVariation

UNIPROT

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

18804074

2008

dbSNP:

rs104894544

ACTG1 ; FSCN2

0.800

GeneticVariation

UNIPROT

A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment.

16773128

2006