PRPH2, peripherin 2, 5961

N. diseases: 152; N. variants: 61
Disease: Butterfly-shaped pigmentary macular dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4511237
Disease: Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigmentary macular dystrophy 		0.310 GeneticVariation disease BEFREE The peripherin/RDS gene when defective is associated with butterfly-shaped pattern dystrophy. 8545803 1996
CUI: C4511237
Disease: Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigmentary macular dystrophy 		0.310 GermlineCausalMutation disease ORPHANET Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. 8485574 1993