ACTG1, actin gamma 1, 71

N. diseases: 291; N. variants: 20
Disease: hearing impairment ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.430 GeneticVariation phenotype BEFREE In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. 19477959 2009
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.430 GeneticVariation phenotype 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
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.430 GeneticVariation phenotype LHGDN A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). 14684684 2003
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.430 Biomarker phenotype GENOMICS_ENGLAND FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. 8941379 1996
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.430 GeneticVariation phenotype CLINVAR
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.430 Biomarker phenotype HPO