Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.010 GeneticVariation BEFREE Furthermore, the ear phenotype in the Clrn1(N48K) mouse suggests that it is a valuable model for ear disease in CLRN1(N48K), the most prevalent Usher syndrome III mutation in North America. 22787034 2012