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 CausalMutation CLINVAR A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. 27318125

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa. 27318125

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 CausalMutation CLINVAR A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. 25649381

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. 25649381

2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR A genetic basis for mechanosensory traits in humans. 22563300

2012
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 CausalMutation CLINVAR A paradigm shift in the delivery of services for diagnosis of inherited retinal disease. 22581970

2012
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR An audit of genetic testing in diagnosis of inherited retinal disorders: a prerequisite for gene-specific intervention. 19788668

2009
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 CausalMutation CLINVAR 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
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR 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
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 CausalMutation CLINVAR Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies. 28838317

2017
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
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 CausalMutation CLINVAR Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies. 24516651

2014
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 CausalMutation 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 Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 CausalMutation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326

2016
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 CausalMutation 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 CausalMutation CLINVAR Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. 25324289

2014
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 a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. 25324289

2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 CausalMutation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
RETINITIS PIGMENTOSA 39 (disorder) 		0.700 GeneticVariation CLINVAR Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643

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

2004