rs111033334, USH2A

N. diseases: 9
Disease: Usher syndrome type 2 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Usher syndrome type 2
CUI: C0339534
Disease: Usher syndrome type 2
0.710 GeneticVariation BEFREE Compound heterozygotes for 2 null mutations (Thr80fs and Arg737stop) in MOL0051 suffered from USH2 while compound heterozygotes for 1 of the null mutations and a novel missense mutation (Gly4674Arg) had nonsyndromic RP. 17296898 2007
Usher syndrome type 2
CUI: C0339534
Disease: Usher syndrome type 2
0.710 CausalMutation CLINVAR