Gene: ACTG1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 Biomarker disease CLINGEN Amino acid 118 in the Deafness Causing (DFNA20/26) ACTG1 gene is a Mutational Hot Spot. 30599039 2018
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 Biomarker disease CLINGEN A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report. 29620237 2018
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 Biomarker disease CLINGEN Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients. 29986705 2018
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 Biomarker disease CLINGEN Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing. 25792668 2015
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 Biomarker disease CLINGEN Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations. 24875298 2014
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 Biomarker disease CLINGEN Of the 23 probands, six had mutations in DFNA genes [WFS1 (n = 2), COCH, ACTG1, TMC1, and POU4F3] known to cause autosomal dominant nonsyndromic hearing loss. 25388789 2014
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 GeneticVariation disease BEFREE Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family. 23506231 2013
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 Biomarker disease CLINGEN Massively parallel DNA sequencing successfully identifies new causative mutations in deafness genes in patients with cochlear implantation and EAS. 24130743 2013
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 Biomarker disease CLINGEN Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family. 23506231 2013
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 Biomarker disease CLINGEN Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study. 24164807 2013
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 GeneticVariation disease BEFREE Currently, ten point mutations in nonmuscle γ-actin have been identified as causing progressive autosomal dominant nonsyndromic hearing loss (DFNA20/26), highlighting these ten residues as functionally important to actin structure and/or regulation. 22718764 2012
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 Biomarker disease CLINGEN 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 		0.330 Biomarker disease CLINGEN β-actin and γ-actin are each dispensable for auditory hair cell development but required for Stereocilia maintenance. 20976199 2010
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 Biomarker disease CLINGEN Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1. 19548389 2009
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 Biomarker disease CLINGEN Gamma-actin is required for cytoskeletal maintenance but not development. 19497859 2009
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 Biomarker disease CLINGEN 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 		0.330 Biomarker disease CLINGEN Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. 18804074 2008
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 GeneticVariation disease BEFREE Six point mutations in non-muscle gamma-actin at the DFNA20/26 locus cause autosomal dominant nonsyndromic hearing loss. 16690605 2006
Entrez Id: 71
Gene Symbol: ACTG1
ACTG1 		0.330 Biomarker disease CLINGEN 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 		0.330 Biomarker disease CLINGEN 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 		0.330 Biomarker disease CLINGEN Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). 13680526 2003