Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.530 Biomarker disease GENOMICS_ENGLAND
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.530 Biomarker disease CTD_human Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. 10581022 1999
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.530 Biomarker disease CTD_human Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents. 16968212 2007
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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
CUI: C0035334
Disease: Retinitis Pigmentosa
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