Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.700 Biomarker CLINGEN Update on the ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome. 27240540

2016
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.700 Biomarker CLINGEN Rare ACTG1 variants in fetal microlissencephaly. 26188271

2015
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.700 CausalMutation CLINVAR Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. 25052316

2015
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.700 GeneticVariation UNIPROT Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss. 25388789

2014
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.700 GeneticVariation UNIPROT Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. 22938506

2012
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.700 GeneticVariation UNIPROT De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783

2012
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.700 Biomarker GENOMICS_ENGLAND De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783

2012
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.700 Biomarker CLINGEN De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. 22366783

2012
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.700 GeneticVariation UNIPROT In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. 19477959

2009
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.700 GeneticVariation UNIPROT Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. 18804074

2008
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.700 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
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.700 GeneticVariation UNIPROT Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). 13680526

2003
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.700 GeneticVariation UNIPROT A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). 14684684

2003
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.700 Biomarker GENOMICS_ENGLAND FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. 8941379

1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.700 Biomarker GENOMICS_ENGLAND FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. 8941379

1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.700 GeneticVariation CLINVAR

Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.700 Biomarker CTD_human

Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1858172
Disease: Deafness, Autosomal Dominant 20
Deafness, Autosomal Dominant 20 		0.700 CausalMutation CLINVAR

Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.700 GeneticVariation CLINVAR

Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C3281235
Disease: BARAITSER-WINTER SYNDROME 2
BARAITSER-WINTER SYNDROME 2 		0.700 Biomarker CTD_human

Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.430 GeneticVariation BEFREE In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. 19477959

2009
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.430 GeneticVariation BEFREE These findings strongly suggested that the I122V mutation in ACTG1 caused autosomal dominant non-syndromic hearing impairment in a Chinese family and expanded the spectrum of ACTG1 mutations causing hearing loss. 18804074

2008
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.430 GeneticVariation LHGDN A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). 14684684

2003
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.430 Biomarker GENOMICS_ENGLAND FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. 8941379

1996
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.430 GeneticVariation CLINVAR