Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease BEFREE Usher Syndrome 2 (USH2): Moderate to severe congenital sensorineural hearing loss on audiometry (predominantly for higher frequencies), normal vestibular function, and typical RP (onset by 20 years of age); accounts for about 26% of all Usher cases. 30578505 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease BEFREE Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene. 30685615 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease BEFREE The early retinal organoids derived from the RP patient with the USH2A mutation exhibited significant defects in terms of morphology, immunofluorescence staining and transcriptional profiling. 31481876 2019
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease BEFREE Generation of an iPSC line, INMi001-A, carrying the two most common USH2A mutations from a compound heterozygote with non-syndromic retinitis pigmentosa. 30453153 2018
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease BEFREE Mutations in USH2A are the most frequent cause of Usher syndrome and autosomal recessive nonsyndromic retinitis pigmentosa. 29777677 2018
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 Biomarker disease BEFREE Generation of an iPS cell line via a non-integrative method using urine-derived cells from a patient with USH2A-associated retinitis pigmentosa. 29660607 2018
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease BEFREE Mutations in USH2A cause both isolated Retinitis Pigmentosa (RP) and Usher syndrome (that implies RP and hearing impairment). 29912909 2018
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 Biomarker disease BEFREE In summary, for the first time, we generated a ush2a knockout zebrafish line with auditory disorder and retinal degeneration which mimicked the symptoms of patients, and revealed that disruption of fibronectin assembly may be one of the factors underlying RP. 30242501 2018
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease BEFREE Two non-syndromic RP and 11 USH2 patients with previously identified USH2A mutations were included. 28678594 2018
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 Biomarker disease BEFREE USH2A can cause retinitis pigmentosa (RP) with or without hearing loss. 29899460 2018
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease BEFREE Four patients had autosomal recessive RP (four with USH2A mutations). 27880076 2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease BEFREE Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP. 28894305 2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease BEFREE Combined retinal degeneration and sensorineural hearing impairment is mostly due to autosomal recessive Usher syndrome (USH1: congenital deafness, early retinitis pigmentosa (RP); USH2: progressive hearing impairment, RP). 28944237 2017
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease BEFREE Consecutive patients with Usher syndrome type IIa (n = 152) and nonsyndromic RP (n = 73) resulting from USH2A mutations from ophthalmogenetic clinics in the Netherlands and Belgium. 26927203 2016
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease BEFREE Mutations in USH2A are a common cause of Retinitis Pigmentosa (RP). 25823529 2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 Biomarker disease BEFREE Three clinical subtypes (USH1, USH2, and USH3) are described, of which USH1 is the most severe form, characterized by congenital profound deafness, constant vestibular dysfunction, and a prepubertal onset of retinitis pigmentosa. 25798947 2015
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease BEFREE Recessive variants in the USH2A gene are an important cause of both Usher syndrome and nonsyndromic retinitis pigmentosa. 24607488 2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease 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
0.700 GeneticVariation disease BEFREE Novel deletions involving the USH2A gene in patients with Usher syndrome and retinitis pigmentosa. 25352746 2014
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease CLINVAR Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis. 23940504 2013
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
0.700 GeneticVariation disease 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
0.700 CausalMutation disease 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
0.700 GeneticVariation disease BEFREE The results further support that mutations of USH2A are also responsible for non-syndromic RP. 21686329 2011