rs111033334, USH2A

N. diseases: 9
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
RETINITIS PIGMENTOSA 39 (disorder)
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
0.700 CausalMutation CLINVAR An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients. 27460420 2016
Congenital sensorineural hearing loss
CUI: C1865866
Disease: Congenital sensorineural hearing loss
0.700 CausalMutation CLINVAR
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
0.700 CausalMutation CLINVAR
Progressive night blindness
CUI: C4024818
Disease: Progressive night blindness
0.700 CausalMutation CLINVAR
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
0.700 CausalMutation CLINVAR
Peripheral visual field loss
CUI: C0241688
Disease: Peripheral visual field loss
0.700 CausalMutation CLINVAR
Usher Syndrome
CUI: C0271097
Disease: Usher Syndrome
0.010 GeneticVariation BEFREE We found that four USH2A mutations (c.239-240insGTAC, c.1000C>T, c.2209C>T, and c.12067-2A>G) account for 64% of mutant alleles underlying USH2 in Jewish families of non-Ashkenazi descent. 18452394 2008
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.010 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