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: 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: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.500 Biomarker CLINGEN Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1. 23559863

2013
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.500 Biomarker CLINGEN Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing. 25211151

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 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 Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patients. 25798947

2015
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.500 Biomarker CLINGEN Genetic Correction of Induced Pluripotent Stem Cells From a Deaf Patient With MYO7A Mutation Results in Morphologic and Functional Recovery of the Derived Hair Cell-Like Cells. 27013738

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 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: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.500 Biomarker CLINGEN Myosin 7 and its adaptors link cadherins to actin. 28660889

2017
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
CUI: C1848639
Disease: USHER SYNDROME, TYPE IA, FORMERLY
USHER SYNDROME, TYPE IA, FORMERLY 		0.500 Biomarker CLINGEN Over-expression of myosin7A in cochlear hair cells of circling mice. 28400833

2017