rs398124619, USH2A

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
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
RETINITIS PIGMENTOSA 39 (disorder)
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
0.700 CausalMutation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276 2012
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
0.700 CausalMutation CLINVAR Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. 22135276 2012
USHER SYNDROME, TYPE IIA
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
0.700 CausalMutation CLINVAR Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. 19881469 2009
RETINITIS PIGMENTOSA 39 (disorder)
CUI: C3151138
Disease: RETINITIS PIGMENTOSA 39 (disorder)
0.700 CausalMutation CLINVAR Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II. 19881469 2009
Severe hearing loss
CUI: C3874334
Disease: Severe hearing loss
0.700 CausalMutation CLINVAR
Prelingual sensorineural hearing impairment
CUI: C4021806
Disease: Prelingual sensorineural hearing impairment
0.700 CausalMutation CLINVAR
obsolete Rod-cone dystrophy
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
0.700 CausalMutation CLINVAR