Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
DEAFNESS, AUTOSOMAL RECESSIVE 2
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
0.700 GeneticVariation CLINVAR Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663 2016
DEAFNESS, AUTOSOMAL RECESSIVE 2
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
0.700 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
DEAFNESS, AUTOSOMAL RECESSIVE 2
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
0.700 GeneticVariation CLINVAR Four-year follow-up of diagnostic service in USH1 patients. 21436283 2011
DEAFNESS, AUTOSOMAL RECESSIVE 2
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
0.700 GeneticVariation CLINVAR Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%. 16679490 2006