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: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia
0.100 Biomarker phenotype HPO
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy
0.100 Biomarker disease HPO
CUI: C0085636
Disease: Photophobia
Photophobia
0.100 Biomarker phenotype HPO
CUI: C0086543
Disease: Cataract
Cataract
0.100 Biomarker disease HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia
0.100 Biomarker phenotype HPO
CUI: C0235095
Disease: Visual field constriction
Visual field constriction
0.100 Biomarker phenotype HPO
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis
0.100 Biomarker disease HPO
CUI: C0456909
Disease: Blindness
Blindness
0.100 Biomarker phenotype HPO
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal
0.100 Biomarker phenotype HPO
Decreased light- and dark-adapted electroretinogram amplitude
0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
0.100 Biomarker phenotype HPO
CUI: C1840457
Disease: Retinal pigment epithelial atrophy
Retinal pigment epithelial atrophy
0.100 Biomarker phenotype HPO
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
0.100 Biomarker phenotype HPO
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
0.100 Biomarker phenotype HPO
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
0.100 Biomarker phenotype HPO
Attenuation of retinal blood vessels
0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.100 Biomarker group HPO
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin
0.100 Biomarker phenotype HPO
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness
0.100 Biomarker phenotype HPO
CUI: C4551714
Disease: Rod-Cone Dystrophy
Rod-Cone Dystrophy
0.100 Biomarker disease HPO
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
0.100 Biomarker phenotype 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
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
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
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