PCDH15, protocadherin related 15, 65217

N. diseases: 36; N. variants: 118
Disease: Hereditary retinal dystrophy ×
Source: CURATED ×
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.
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 7 1 0.500 definitive 1.000 7 2001 2014