rs1472566324, MYO7A

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Usher Syndrome, Type I
CUI: C1568247
Disease: Usher Syndrome, Type I
0.800 GeneticVariation CLINVAR Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss. 26969326 2016
Usher Syndrome, Type I
CUI: C1568247
Disease: Usher Syndrome, Type I
0.800 GeneticVariation CLINVAR Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome. 27583663 2016
Usher Syndrome, Type I
CUI: C1568247
Disease: Usher Syndrome, Type I
0.800 GeneticVariation UNIPROT American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. 24651602 2014
Usher Syndrome, Type I
CUI: C1568247
Disease: Usher Syndrome, Type I
0.800 GeneticVariation CLINVAR Four-year follow-up of diagnostic service in USH1 patients. 21436283 2011
Usher Syndrome, Type I
CUI: C1568247
Disease: Usher Syndrome, Type I
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Usher syndrome. 21697857 2011
Usher Syndrome, Type I
CUI: C1568247
Disease: Usher Syndrome, Type I
0.800 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
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