Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.340 | Biomarker | disease | CLINGEN | Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C. | 19324851 | 2009 | ||||
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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 | ||||
|
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 | ||||
|
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 | ||||
|
0.340 | Biomarker | disease | CLINGEN | The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18. | 12107438 | 2002 | ||||
|
0.340 | GeneticVariation | disease | BEFREE | The USHIC locus overlaps the reported critical interval for nonsyndromic deafness locus DFNB18. | 12107438 | 2002 | ||||
|
0.340 | Biomarker | disease | CLINGEN | Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness. | 12136232 | 2002 | ||||
|
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 | ||||
|
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 |