| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | disease | UNIPROT | Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss. | 25388789 | 2014 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Targeted massive parallel sequencing: the effective detection of novel causative mutations associated with hearing loss in small families. | 22938506 | 2012 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. | 19477959 | 2009 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. | 18804074 | 2008 | ||||
|
0.700 | GeneticVariation | disease | 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 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). | 13680526 | 2003 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). | 14684684 | 2003 | ||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. | 8941379 | 1996 | ||||
|
0.700 | GeneticVariation | disease | CLINVAR | |||||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.700 | CausalMutation | disease | CLINVAR |