USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: USHER SYNDROME, TYPE IIA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		A 0.800 GeneticVariation CLINVAR Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. 24944099 2014
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families. 23737954 2013
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT 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
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. 22004887 2011
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. 21593743 2011
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		A 0.800 GeneticVariation CLINVAR Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999 2010
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Novel USH2A compound heterozygous mutations cause RP/USH2 in a Chinese family. 20309401 2010
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. 20507924 2010
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. 19683999 2010
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. 20440071 2010
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		A 0.800 GeneticVariation CLINVAR Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. 18273898 2008
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Four USH2A founder mutations underlie the majority of Usher syndrome type 2 cases among non-Ashkenazi Jews. 18452394 2008
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. 17085681 2006
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Genetic analysis of 2299delG and C759F mutations (USH2A) in patients with visual and/or auditory impairments. 14970843 2004
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Mutational spectrum in Usher syndrome type II. 15025721 2004
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT USH2A mutation analysis in 70 Dutch families with Usher syndrome type II. 15241801 2004
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. 15325563 2004
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. 12525556 2003
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Mutations in myosin VIIA (MYO7A) and usherin (USH2A) in Spanish patients with Usher syndrome types I and II, respectively. 12112664 2002
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Spectrum of mutations in USH2A in British patients with Usher syndrome type II. 11311042 2001
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Three novel mutations and twelve polymorphisms identified in the USH2A gene in Israeli USH2 families. 10738000 2000
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. 10729113 2000
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		0.800 GeneticVariation UNIPROT Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa. 9624053 1998
dbSNP: rs80338902
rs80338902
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		A 0.800 CausalMutation CLINVAR