RBP3, retinol binding protein 3, 5949

N. diseases: 73; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11204213
rs11204213
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
CUI: C0524957
Disease:
Corneal Topography 		T 0.800 GeneticVariation GWASCAT CMPK1 and RBP3 are associated with corneal curvature in Asian populations. 24963161 2014
dbSNP: rs11204213
rs11204213
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
CUI: C0524957
Disease:
Corneal Topography 		T 0.800 GeneticVariation GWASDB CMPK1 and RBP3 are associated with corneal curvature in Asian populations. 24963161 2014
dbSNP: rs146150511
rs146150511
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
CUI: C3715216
Disease:
RETINITIS PIGMENTOSA 66 		0.800 GeneticVariation UNIPROT Secretory defect and cytotoxicity: the potential disease mechanisms for the retinitis pigmentosa (RP)-associated interphotoreceptor retinoid-binding protein (IRBP). 23486466 2013
dbSNP: rs146150511
rs146150511
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
CUI: C3715216
Disease:
RETINITIS PIGMENTOSA 66 		0.800 GeneticVariation UNIPROT A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. 19074801 2009
dbSNP: rs146150511
rs146150511
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
CUI: C3715216
Disease:
RETINITIS PIGMENTOSA 66 		A 0.800 CausalMutation CLINVAR A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. 19074801 2009
dbSNP: rs782215106
rs782215106
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
CUI: C0854723
Disease:
Retinal Dystrophies 		A 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
dbSNP: rs782469310
rs782469310
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
CUI: C0854723
Disease:
Retinal Dystrophies 		T 0.700 GeneticVariation CLINVAR Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease. 26872967 2016
dbSNP: rs782604129
rs782604129
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
CUI: C0339535
Disease:
Night blindness, congenital stationary 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs146150511
rs146150511
Entrez Id: 5949
Gene Symbol: RBP3
RBP3
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.010 GeneticVariation BEFREE Recently, a D1080N mutation in IRBP was found in patients with retinitis pigmentosa, a frequent cause of retinal degeneration. 23486466 2013