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: C3151068
Disease: RETINITIS PIGMENTOSA 44
RETINITIS PIGMENTOSA 44
0.600 Biomarker disease CTD_human
CUI: C3151068
Disease: RETINITIS PIGMENTOSA 44
RETINITIS PIGMENTOSA 44
0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C3151068
Disease: RETINITIS PIGMENTOSA 44
RETINITIS PIGMENTOSA 44
0.600 GeneticVariation disease UNIPROT 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 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 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 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 GENOMICS_ENGLAND
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
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
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
0.100 Biomarker disease HPO
CUI: C0022578
Disease: Keratoconus
Keratoconus
0.100 Biomarker disease HPO
CUI: C0027092
Disease: Myopia
Myopia
0.100 GeneticVariation disease GWASCAT Detection and interpretation of shared genetic influences on 42 human traits. 27182965 2016
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity
0.100 Biomarker disease HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.100 Biomarker disease HPO
CUI: C0086543
Disease: Cataract
Cataract
0.100 Biomarker disease HPO
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis
0.100 Biomarker disease HPO
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
0.100 Biomarker disease HPO
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