Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0005754
Disease: Congenital blindness
Congenital blindness
0.110 GeneticVariation disease BEFREE Mutations truncating RD3 cause severe congenital blindness by preventing the inhibitory binding of RD3 to the cyclase. 30559291 2019
CUI: C0005754
Disease: Congenital blindness
Congenital blindness
0.110 Biomarker disease HPO