RGR, retinal G protein coupled receptor, 5995

N. diseases: 43; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.530 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
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: C0854723
Disease: Retinal Dystrophies
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
Human anaplasmosis due to Anaplasma phagocytophilum
0.030 Biomarker disease BEFREE Therefore, Western immunoblot analysis using rP44 and rP30 may be useful in discriminating dually HME and HGE IFA-reactive sera. 11682518 2001
Human anaplasmosis due to Anaplasma phagocytophilum
0.030 Biomarker disease BEFREE This suggests that rP44 is an HGE-E. equi group-specific antigen. 9620397 1998
Human anaplasmosis due to Anaplasma phagocytophilum
0.030 Biomarker disease BEFREE Proteinase K treatment of the HGE agent or rP44 eliminated the ability to induce these three cytokines. 10816490 2000
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.020 GeneticVariation group BEFREE We describe the clinical features in two pedigrees with dominantly inherited retinopathy segregating the previously reported frameshifting mutation, c.836dupG (p.Ile280Asn*78) in the terminal exon of the RGR gene, and compare their haplotypes to that of the previously reported pedigree. 30347075 2018
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases
0.020 GeneticVariation group BEFREE The present study aims to systemically analyze the potential role of variants of RGR in retinal diseases. 27748892 2016
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 Biomarker disease BEFREE Furthermore, CGKRK and RGR peptides strongly bound to blood vessels in freshly resected human GBM, demonstrating shared peptide-binding activities in mouse and human primary brain tumour vessels. 29603739 2018
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 Biomarker disease BEFREE In Western blot assays, the RGR-d protein was detected in retinas of a large proportion ( approximately 53%) of individual donors, including patients with age-related macular degeneration (AMD). 16530760 2006
CUI: C1260959
Disease: Drusen
Drusen
0.010 Biomarker disease BEFREE RGR-d was analyzed in drusen and Bruch's membrane by immunohistochemical localization. 19450444 2009
CUI: C1282983
Disease: ehrlichiosis chafeensis (diagnosis)
ehrlichiosis chafeensis (diagnosis)
0.010 Biomarker disease BEFREE Neither human anti-Ehrlichia chaffeensis serum nor rabbit anti-Borrelia burgdorferi serum reacted with rP44. 9620397 1998
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.010 Biomarker disease BEFREE Furthermore, CGKRK and RGR peptides strongly bound to blood vessels in freshly resected human GBM, demonstrating shared peptide-binding activities in mouse and human primary brain tumour vessels. 29603739 2018
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies
0.110 CausalMutation group CLINVAR Mutations in RGR, encoding a light-sensitive opsin homologue, in patients with retinitis pigmentosa. 10581022 1999
CUI: C3151068
Disease: RETINITIS PIGMENTOSA 44
RETINITIS PIGMENTOSA 44
0.600 Biomarker disease CTD_human
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: C0027092
Disease: Myopia
Myopia
0.100 GeneticVariation disease GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration
0.010 GeneticVariation phenotype LHGDN Autosomal recessive retinitis pigmentosa and E150K mutation in the opsin gene. 16737970 2006
Diabetes Mellitus, Non-Insulin-Dependent
0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma
0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
0.100 Biomarker disease HPO
Sensorineural Hearing Loss (disorder)
0.100 Biomarker disease HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism
0.100 Biomarker disease HPO