Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
0.300 GermlineCausalMutation disease ORPHANET Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation. 25789692 2015
CUI: C3489532
Disease: Cone-Rod Dystrophy 2
Cone-Rod Dystrophy 2
0.300 GermlineCausalMutation disease ORPHANET QRX, a novel homeobox gene, modulates photoreceptor gene expression. 15028672 2004