| Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
Multiple congenital anomalies
|
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 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. | 24944099 | 2014 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Expressivity of hearing loss in cases with Usher syndrome type IIA. | 24160897 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. | 23352160 | 2013 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Patterns and rates of exonic de novo mutations in autism spectrum disorders. | 22495311 | 2012 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | An update on the genetics of usher syndrome. | 21234346 | 2011 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Phenotypes in defined genotypes including siblings with Usher syndrome. | 21174530 | 2011 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | The USH2A c.2299delG mutation: dating its common origin in a Southern European population. | 20145675 | 2010 | |||||
Multiple congenital anomalies
|
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 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Novel USH2A mutations in Israeli patients with retinitis pigmentosa and Usher syndrome type 2. | 17296898 | 2007 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. | 15325563 | 2004 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. | 12525556 | 2003 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Spectrum of mutations in USH2A in British patients with Usher syndrome type II. | 11311042 | 2001 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Missense mutation in the USH2A gene: association with recessive retinitis pigmentosa without hearing loss. | 10775529 | 2000 | |||||
Multiple congenital anomalies
|
0.700 | GeneticVariation | CLINVAR | Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. | 10729113 | 2000 |