Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1879328
Disease: Blindness both eyes NOS (disorder)
Blindness both eyes NOS (disorder)
0.010 GeneticVariation phenotype BEFREE RGPR was the first gene found to be mutated in XLRP, the subtype of RP displaying the most severe form of retinal degeneration with partial or complete blindness in the third or fourth decade of life. 12402343 2002