Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY
0.300 Biomarker CLINGEN Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663

2016

Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY
0.300 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: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY
0.300 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: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY
0.300 Biomarker CLINGEN Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis. 24608321

2014

Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY
0.300 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: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY
0.300 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: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY
0.300 Biomarker CLINGEN SANS (USH1G) expression in developing and mature mammalian retina. 17923142

2008

Entrez Id: 124590
Gene Symbol: USH1G
USH1G
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY
0.300 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: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY
0.300 Biomarker CLINGEN A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. 11941484

2002