Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 Biomarker CLINGEN The aim of the present work was the mutation screening of the USH1C gene in a cohort of 33 Usher syndrome patients, to identify the genetic cause of the disease and to determine the relative involvement of this gene in USH1 pathogenesis in the Spanish population. 21203349

2010
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 Biomarker CLINGEN Of 46 unrelated cases of Usher syndrome type I residing in New England, two were homozygous at genetic markers in the USH1C region. 11239869

2001
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 Biomarker CLINGEN Here, we report a gene underlying USH1C (MIM 276904), a USH1 subtype described in a population of Acadian descendants from Louisiana and in a Lebanese family. 10973247

2000
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.500 Biomarker CLINGEN A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene. 10973248

2000