Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
0.340 Biomarker disease CLINGEN Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C. 19324851 2009
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
0.340 GeneticVariation disease BEFREE By co-immunoprecipitation and in vitro binding assays, we establish that the usherin cytodomain can bind to whirlin and harmonin, two PDZ domain-containing proteins that are defective in genetic forms of isolated deafness and USH type I, respectively. 16301217 2005
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
0.340 GeneticVariation 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: 10083
Gene Symbol: USH1C
USH1C
0.340 Biomarker disease CLINGEN Mouse models of USH1C and DFNB18: phenotypic and molecular analyses of two new spontaneous mutations of the Ush1c gene. 14519688 2003
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
0.340 Biomarker disease CLINGEN The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18. 12107438 2002
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
0.340 GeneticVariation disease BEFREE The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18. 12107438 2002
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
0.340 Biomarker disease CLINGEN Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. 12136232 2002
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
0.340 Biomarker disease CLINGEN As several of these transcripts were absent from the eye, we propose that USH1C also underlies the DFNB18 form of isolated deafness. 10973247 2000
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
0.340 GeneticVariation disease BEFREE As several of these transcripts were absent from the eye, we propose that USH1C also underlies the DFNB18 form of isolated deafness. 10973247 2000