RLBP1, retinaldehyde binding protein 1, 6017

N. diseases: 67; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015398
Disease: Eye Diseases, Hereditary
Eye Diseases, Hereditary 		0.300 Biomarker group CTD_human Diseases caused by defects in the visual cycle: retinoids as potential therapeutic agents. 16968212 2007
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 Biomarker group HPO
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.110 GeneticVariation group BEFREE Because of the high density of Alu elements in RLBP1, a systematic search should be made for deletions in this gene when one or both alleles lack point mutations, in the case of RPA or flecked retinal dystrophy. 17065479 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.030 GeneticVariation group BEFREE The two RLBP1 genotypes presented a phenotypical and electrophysiological expression of progressive retinal disease similar to that previously described in homozygotes for the c.700C>T (p.R234W) RLBP1 mutation. 22551409 2013
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.030 Biomarker group BEFREE These additional mutations will aid ongoing functional studies and add to our understanding of the molecular pathology pertaining to RLBP1-associated retinopathies. 15234312 2004
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		0.030 GeneticVariation group BEFREE Mutations in the RLBP1 gene encoding the cellular retinaldehyde-binding protein (CRALBP) cause autosomal recessive progressive retinopathy, such as retinitis punctata albescens (RPA), Bothnia-type dystrophy (BD), Newfoundland rod-cone dystrophy (NFRCD), retinitis pigmentosa (RP) and fundus albipunctatus (FA). 25429852 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 AlteredExpression group BEFREE Biopsies of tumor and healthy tissues from 25 patients with OSCC were collected and subjected to RNA and protein extraction to confirm upregulation of RLBP1 in tumor tissues. 31336396 2019
CUI: C0009398
Disease: Color vision defect
Color vision defect 		0.100 Biomarker phenotype HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 Biomarker phenotype HPO
CUI: C0036454
Disease: Scotoma
Scotoma 		0.100 Biomarker phenotype HPO
CUI: C0085636
Disease: Photophobia
Photophobia 		0.100 Biomarker phenotype HPO
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 Biomarker phenotype HPO
CUI: C0152191
Disease: Scotoma, Central
Scotoma, Central 		0.100 Biomarker phenotype HPO
CUI: C0241688
Disease: Peripheral visual field loss
Peripheral visual field loss 		0.100 Biomarker phenotype HPO
CUI: C0423420
Disease: Absent foveal reflex
Absent foveal reflex 		0.100 Biomarker phenotype HPO
CUI: C0423421
Disease: Atrophic macular change
Atrophic macular change 		0.100 Biomarker phenotype HPO
CUI: C0456909
Disease: Blindness
Blindness 		0.100 Biomarker phenotype HPO
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		0.100 Biomarker phenotype HPO
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		0.100 Biomarker phenotype HPO
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		0.100 Biomarker phenotype HPO
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		0.100 Biomarker phenotype HPO