Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4363
Gene Symbol: ABCC1
ABCC1 		0.010 Biomarker disease BEFREE Extrusion pump ABCC1 was first linked with nonsyndromic hearing loss in humans by stepwise genetic analysis. 31273342 2019
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.030 Biomarker disease BEFREE Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss. 16385458 2006
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.030 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: 60
Gene Symbol: ACTB
ACTB 		0.030 Biomarker disease BEFREE Many of the mutations known to cause either syndromic or nonsyndromic deafness occur in genes that interact with actin (e.g., the myosins, espin, and harmonin). 13680526 2003
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 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 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 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 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 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 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 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 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 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 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 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 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 Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). 13680526 2003
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 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 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 massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. 22938506 2012