|
RETINITIS PIGMENTOSA 36
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Palmitoylation of Progressive Rod-Cone Degeneration (PRCD) Regulates Protein Stability and Localization.
|
27613864 |
2016 |
|
RETINITIS PIGMENTOSA 36
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
The progressive rod-cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway.
|
24992209 |
2014 |
|
RETINITIS PIGMENTOSA 36
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.
|
16938425 |
2006 |
|
RETINITIS PIGMENTOSA 36
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
RETINITIS PIGMENTOSA 36
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
RETINITIS PIGMENTOSA 36
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
RETINITIS PIGMENTOSA 36
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
|
Retinitis Pigmentosa
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the PRCD gene are associated with RP in both dogs and humans.
|
24992209 |
2014 |
|
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 |
|
Retinitis Pigmentosa
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
To date, this is the only RP-causing mutation of PRCD reported in humans.
|
20507925 |
2010 |
|
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 |
|
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 |
|
Retinitis Pigmentosa
|
0.460 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Retinitis Pigmentosa
|
0.460 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Disorder of eye
|
0.300 |
Biomarker
|
group |
GENOMICS_ENGLAND |
|
|
|
|
Blindness
|
0.130 |
GeneticVariation
|
phenotype |
BEFREE |
Until now, the function of PRCD has remained enigmatic despite multiple demonstrations that its mutations cause blindness in humans and dogs.
|
31189593 |
2019 |
|
Blindness
|
0.130 |
GeneticVariation
|
phenotype |
BEFREE |
Remarkably, one of them is PRCD, a protein whose mutations have been shown to cause blindness, yet cellular localization remained completely unknown.
|
23672200 |
2013 |
|
Blindness
|
0.130 |
Biomarker
|
phenotype |
BEFREE |
Progressive rod-cone degeneration (prcd) is the most widespread hereditary retinal disease leading to blindness in dogs and phenotypically is the canine counterpart of retinitis pigmentosa (RP) in humans.
|
9501213 |
1998 |
|
Blindness
|
0.130 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Microalbuminuria
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
A variant within the FTO confers susceptibility to diabetic nephropathy in Japanese patients with type 2 diabetes.
|
30566433 |
2018 |
|
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Glaucoma
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|