USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: Usher Syndrome, Type II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE To assess the causative role of USH2A p.(Cys759Phe) in autosomal recessive RP (ARRP) and Usher syndrome type II (USH2) and to establish possible genotype-phenotype correlations associated with p.(Cys759Phe), we performed a comprehensive genetic and clinical study in patients suffering from any of the two above-mentioned diseases and carrying at least one p.(Cys759Phe) allele. 29912909 2018
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 Biomarker disease BEFREE Here, we constructed a ush2a knockout (ush2a<sup>-/-</sup>) zebrafish model using TALEN technology to investigate the molecular pathology of USH2. 30242501 2018
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 Biomarker disease BEFREE We determined the clinical outcomes for USH2A-related non-syndromic RP or Usher syndrome type II (USH2). 28678594 2018
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 Biomarker disease BEFREE Unfortunately, analyzing USH2A transcripts is challenging and for 1.8%-19% of USH2 individuals carrying a single USH2A recessive mutation, a second mutation is yet to be identified. 26629787 2016
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE To describe the primary phenotypic characteristics and differences between type I and type II Usher syndrome and to establish a phenotype-genotype correlation for the 2 most frequent mutations in the USH2A gene. 25375654 2015
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 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: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 Biomarker disease BEFREE Alterations of USH2A, encoding usherin, are responsible for more than 70% of cases of Usher syndrome type II (USH2), a recessive disorder that combines moderate to severe hearing loss and retinal degeneration. 24944099 2014
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE Audiological findings were analyzed in a total of 100 USH2 patients (92 families) divided into three groups according to the gene involved: 88 USH2A, 10 GPR98 and 2 DFNB31 patients. 21895633 2012
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE Considering only the patients clearly diagnosed with Usher syndrome type II, and results obtained in this and previous studies, we can state that mutations in USH2A are responsible for 76.1% of USH2 disease in patients of Spanish origin. 22004887 2011
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II. 21686329 2011
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE The 51 exons unique to the long isoform of USH2A were screened for mutations among a core set of 108 patients diagnosed with USH2 and 80 patients with non-syndromic RP who were all included in a previously reported screen of the short isoform of USH2A. 20507924 2010
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE In this study, the heterozygous mutation and the homozygous mutation in USH2A may cause Usher syndrome Type II or RP, respectively. 20309401 2010
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE Altogether, our data support the fact that c.2299delG/p.E767fs is indeed the most common USH2A mutation found in USH2 patients of European Caucasian background. 19881469 2009
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 Biomarker disease BEFREE To further elucidate the role of USH2A in USH2, mutation screening was undertaken in three Chinese families with USH2. 19023448 2008
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE Rates of change in patients with the Cys759Phe mutation, the USH2A mutation associated with nonsyndromic disease, were compared with rates of change in patients with the Glu767fs mutation, the most common USH2A mutation associated with Usher syndrome type II (i.e., retinitis pigmentosa and hearing loss). 18641288 2008
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 18273898 2008
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE The usherin gene (USH2A) has been screened for mutations causing Usher syndrome type II (USH2). 17405132 2007
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 Biomarker disease BEFREE Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. 17085681 2006
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. 15015129 2004
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE Usher syndrome type II (USH2) is a genetically heterogeneous autosomal recessive disorder with at least three genetic subtypes (USH2A, USH2B, and USH2C) and is classified phenotypically as congenital hearing loss and progressive retinitis pigmentosa. 14740321 2004
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. 15325563 2004
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE We carried out a mutation screening of the USH2A gene in 88 probands with Usher syndrome type II to determine the frequency of USH2A mutations as a cause for USH2. 15025721 2004
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE Spectrum of mutations in USH2A in British patients with Usher syndrome type II. 11311042 2001
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE Microdeletions Glu767(1-bp del), Thr967(1-bp del), and Leu1446(2-bp del) in the human USH2A gene have been reported to cause Usher syndrome type II, a disorder characterized by retinitis pigmentosa (RP) and mild-to-severe hearing loss. 10775529 2000
CUI: C1568249
Disease: Usher Syndrome, Type II
Usher Syndrome, Type II 		0.400 GeneticVariation disease BEFREE Genetic linkage studies have revealed genetic heterogeneity among the three types of USH, with the majority of USH2 families showing linkage to the USH2A locus in 1q41. 10916187 2000