Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Identification of 11 novel mutations in USH2A among Japanese patients with Usher syndrome type 2. 19737284

2009
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. 21151602

2010
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR 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
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. 26667666

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. 25333064

2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome. 28944237

2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes. 20052763

2010
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. 21569298

2011
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. 19881469

2009
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. 12112664

2002
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR 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: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families. 28512305

2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. 15325563

2004
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients. 28894305

2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Molecular findings from 537 individuals with inherited retinal disease. 27208204

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography. 25425308

2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. 23940504

2013
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Next-generation sequencing to solve complex inherited retinal dystrophy: A case series of multiple genes contributing to disease in extended families. 28761320

2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276

2012
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 24265693

2013
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy. 25991456

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Usher syndrome in Denmark: mutation spectrum and some clinical observations. 27957503

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Usher syndrome: an effective sequencing approach to establish a genetic and clinical diagnosis. 25575603

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. 24516651

2014