RETINITIS PIGMENTOSA 44
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.
|
10581022 |
1999 |
RETINITIS PIGMENTOSA 44
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
RETINITIS PIGMENTOSA 44
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
RETINITIS PIGMENTOSA 44
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Retinitis Pigmentosa
|
0.530 |
GeneticVariation
|
disease |
BEFREE |
It has been previously reported that mutations in retinal G protein coupled receptor (RGR) are associated with retinitis pigmentosa.
|
27748892 |
2016 |
Retinitis Pigmentosa
|
0.530 |
GeneticVariation
|
disease |
BEFREE |
We used denaturing high performance liquid chromatography (D-HPLC) and direct sequencing to screen 216 patients (134 with autosomal recessive or sporadic retinitis pigmentosa (RP) and 82 with other retinal dystrophies) for RBP1 and RBP3, and 331 patients for RGR (79 cases with autosomal dominant RP and 36 RP cases with undetermined inheritance were added to the 216 previous patients).
|
21067480 |
2010 |
Retinitis Pigmentosa
|
0.530 |
Biomarker
|
disease |
CTD_human |
Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents.
|
16968212 |
2007 |
Retinitis Pigmentosa
|
0.530 |
Biomarker
|
disease |
BEFREE |
Since rhodopsin and RGR, another opsin-like protein, cause retinitis pigmentosa, we used D-HPLC to screen for the peropsin gene RRH in 331 patients (288 with retinitis pigmentosa and 82 with other retinal dystrophies).
|
17454745 |
2007 |
Retinitis Pigmentosa
|
0.530 |
Biomarker
|
disease |
CTD_human |
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.
|
10581022 |
1999 |
Retinitis Pigmentosa
|
0.530 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
|
|
|
Retinal Dystrophies
|
0.110 |
Biomarker
|
group |
BEFREE |
Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.
|
27623334 |
2016 |
Retinal Dystrophies
|
0.110 |
CausalMutation
|
group |
CLINVAR |
Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa.
|
10581022 |
1999 |
Myopia
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Detection and interpretation of shared genetic influences on 42 human traits.
|
27182965 |
2016 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Glaucoma
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Conductive hearing loss
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Sensorineural Hearing Loss (disorder)
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hyperinsulinism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Hypogonadism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Keratoconus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Nystagmus
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Obesity
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|