USH1G, USH1 protein network component sans, 124590

N. diseases: 52; N. variants: 14
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.300 Biomarker disease 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
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.300 Biomarker disease CLINGEN Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663 2016
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.300 Biomarker disease CLINGEN Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947 2015
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.300 Biomarker disease CLINGEN Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis. 24608321 2014
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.300 Biomarker disease CLINGEN Digenic inheritance of deafness caused by 8J allele of myosin-VIIA and mutations in other Usher I genes. 22381527 2012
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.300 Biomarker disease CLINGEN Usher type 1G protein sans is a critical component of the tip-link complex, a structure controlling actin polymerization in stereocilia. 21436032 2011
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.300 Biomarker disease CLINGEN SANS (USH1G) expression in developing and mature mammalian retina. 17923142 2008
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.300 Biomarker disease 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
CUI: C1848640
Disease: USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY 		0.300 Biomarker disease CLINGEN A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. 11941484 2002