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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 GeneticVariation CLINVAR Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis. 25133613

2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 CausalMutation CLINVAR Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. 21593743

2011
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 GeneticVariation CLINVAR Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. 20507924

2010
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 CausalMutation 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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 GeneticVariation CLINVAR Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 18273898

2008
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 CausalMutation CLINVAR Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 18273898

2008
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 CausalMutation 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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 CausalMutation 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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 GeneticVariation CLINVAR Spectrum of mutations in USH2A in British patients with Usher syndrome type II. 11311042

2001
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 CausalMutation CLINVAR Identification of novel USH2A mutations: implications for the structure of USH2A protein. 10909849

2000
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 GeneticVariation CLINVAR This single mutation was found in 4.5% of 224 patients with recessive RP, suggesting that USH2A could cause more cases of nonsyndromic recessive RP than does any other gene identified to date. 10775529

2000
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 CausalMutation CLINVAR Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 10729113

2000
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.700 CausalMutation CLINVAR Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 9624053

1998