USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: Usher syndrome type 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 GeneticVariation disease BEFREE Generation of a human iPSC line, INMi002-A, carrying the most prevalent USH2A variant associated with Usher syndrome type 2. 30468996 2018
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker disease GENOMICS_ENGLAND Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle. 26401052 2015
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker disease CLINGEN Individual USH2 proteins make distinct contributions to the ankle link complex during development of the mouse cochlear stereociliary bundle. 26401052 2015
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker disease CLINGEN Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing. 25211151 2014
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 GeneticVariation disease BEFREE In Spain, USH2A and GPR98 are responsible for 95.8% and 5.2% of USH2 mutated cases, respectively. 23441107 2013
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker disease CLINGEN Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. 22004887 2011
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker disease CLINGEN Functional analysis of splicing mutations in MYO7A and USH2A genes. 20497194 2011
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker disease CLINGEN Cell transplantation to arrest early changes in an ush2a animal model. 19959642 2010
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 GeneticVariation disease BEFREE Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. 19737284 2009
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 GeneticVariation disease BEFREE An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians. 18665195 2009
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 GeneticVariation disease BEFREE Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. 18452394 2008
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker disease CLINGEN Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. 17360538 2007
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 GeneticVariation disease BEFREE Understanding the mechanism by which different USH2A mutations cause either USH2 or RP may assist in the development of novel therapeutic approaches. 17296898 2007
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 GeneticVariation disease BEFREE Twelve mutations in USH2A were found in 11 patients, including four new mutations c.850delGA, c.1841-2A > G, c.3129insT, and c.3920C > G (Ser1307Stop), accounting for 39% of our USH2 patients 15823922 2005
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 GeneticVariation disease BEFREE To investigate the retinal disease expression in USH2C, the subtype of Usher syndrome type 2 recently shown to be caused by mutation in the VLGR1 gene, and compare results with those from USH2A, a more common cause of Usher syndrome. 15671307 2005
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker disease 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
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker disease CLINGEN Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 9624053 1998
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 Biomarker disease BEFREE USH2 was shown to map to the same chromosomal segment as evidenced by the fact that D1S58, a polymorphic marker previously shown to be located proximal to the USH2 locus, was also assigned in the 1q42-qter segment. 8188272 1994
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 CausalMutation disease CLINVAR
CUI: C0339534
Disease: Usher syndrome type 2
Usher syndrome type 2 		0.690 GeneticVariation disease CLINVAR