PRPH2, peripherin 2, 5961

N. diseases: 4; N. variants: 32
Source: UNIPROT ×
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: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 18 0.910 limited 1.000 11 18 1985 2016
CUI: C1842914
Disease: Adult-Onset Vitelliform Macular Dystrophy
Adult-Onset Vitelliform Macular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 1 6 0.750 limited 1.000 5 6 1997 2016
CUI: C2751290
Disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2
CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2 		disease Eye Diseases Disease or Syndrome 1 2 0.700 limited 1.000 4 2 2006 2016
CUI: C4551999
Disease: MACULAR DYSTROPHY, PATTERNED, 1
MACULAR DYSTROPHY, PATTERNED, 1 		disease Eye Diseases Disease or Syndrome 1 9 0.600 limited 1.000 4 9 1993 2016