PRCD, photoreceptor disc component, 768206

N. diseases: 40; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.460 Biomarker disease BEFREE In this study, we find that PRCD is post-translationally modified by a palmitoyl lipid group at the cysteine residue linked with RP. 27613864 2016
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.460 GeneticVariation disease BEFREE Mutations of the PRCD gene are associated with RP in both dogs and humans. 24992209 2014
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.460 GeneticVariation disease BEFREE We found a novel mutation in PRCD (c.52C>T, p.R18X) in three siblings affected by RP and present detailed morphologic and functional parameters. 23805042 2013
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.460 GeneticVariation disease BEFREE To date, this is the only RP-causing mutation of PRCD reported in humans. 20507925 2010
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.460 Biomarker disease BEFREE Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans. 16938425 2006
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.460 GeneticVariation disease BEFREE Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans. 9501213 1998
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.460 Biomarker disease GENOMICS_ENGLAND
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.460 CausalMutation disease CLINVAR