Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
0.430 GeneticVariation phenotype BEFREE In patients with both visual and hearing impairments, the biallelic disease-causing mutation rate was assessed for each Usher gene to propose a classification by frequency: USH2A: 50% (341/684) of patients, MYO7A: 21% (144/684), CDH23: 6% (39/684), ADGRV1: 5% (35/684), PCDH15: 3% (21/684), USH1C: 2% (17/684), CLRN1: 2% (14/684), USH1G: 1% (9/684), WHRN: 0.4% (3/684), PDZD7 0.1% (1/684), CIB2 (0/684). 30531642 2019
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
0.430 GeneticVariation phenotype BEFREE However, no putative pathogenic variants were found in USH1C, the gene mutated in DFNB18 hearing impairment. 23122587 2012
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
0.430 Biomarker phenotype BEFREE Allelic mutations in harmonin and whirlin can cause both Usher syndrome (USH1C and USH2D, respectively) and congenital hearing impairment (DFNB18 and DFNB31, respectively). 19028668 2009
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
0.430 Biomarker phenotype GENOMICS_ENGLAND The Usher syndrome in the Lebanese population and further refinement of the USH2A candidate region. 9760205 1998
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
0.430 CausalMutation phenotype CLINVAR