Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bilateral nanophthalmos
CUI: C4280422
Disease: Bilateral nanophthalmos
0.010 GeneticVariation BEFREE Here we report simultaneous occurrence of RP associated with bilateral nanophthalmos and acute angle-closure glaucoma in patient with a new mutation in rhodopsin (R135W). 30635925 2019