Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.210 Biomarker disease BEFREE Here we report that defects in spliceosome-associated protein CWC27 are associated with a spectrum of disease phenotypes ranging from isolated RP to severe syndromic forms. 28285769 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.210 Biomarker disease MGD