Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Autosomal dominant retinitis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 85 65 0.010 None 1.000 1 2013 2013
CUI: C0339528
Disease: X-linked retinitis pigmentosa
X-linked retinitis pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 29 7 0.010 None 1.000 1 1998 1998