Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.450 Biomarker CLINGEN Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663

2016
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.450 Biomarker CLINGEN Heterozygous mutation of Ush1g/Sans in mice causes early-onset progressive hearing loss, which is recovered by reconstituting the strain-specific mutation in Cdh23. 26936824

2016
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.450 Biomarker CLINGEN Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947

2015
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.450 Biomarker CLINGEN Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis. 24608321

2014
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.450 Biomarker CLINGEN Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes. 22381527

2012
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.450 Biomarker CLINGEN Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. 21436032

2011
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.450 Biomarker CLINGEN SANS (USH1G) expression in developing and mature mammalian retina. 17923142

2008
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.450 Biomarker CLINGEN Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. 12588794

2003
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I 		0.450 Biomarker CLINGEN A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. 11941484

2002