Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker CLINGEN Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle. 26401052

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 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: 7399
Gene Symbol: USH2A
USH2A
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker CLINGEN Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. 22004887

2011
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker CLINGEN Functional analysis of splicing mutations in MYO7A and USH2A genes. 20497194

2011
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker CLINGEN Cell transplantation to arrest early changes in an ush2a animal model. 19959642

2010
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker CLINGEN Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. 17360538

2007
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker CLINGEN Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells. 16301217

2005
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker CLINGEN Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 9624053

1998