RBP3, retinol binding protein 3, 5949

N. diseases: 73; N. variants: 5
Disease: Autosomal recessive retinitis pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.020 GeneticVariation disease BEFREE Sequencing of RBP3, contained in this region, was performed in this family and others with recessive RP. 19074801 2009
CUI: C0339526
Disease: Autosomal recessive retinitis pigmentosa
Autosomal recessive retinitis pigmentosa 		0.020 GeneticVariation disease BEFREE The inheritance of two intragenic markers within the interstitial retinol binding protein (IRBP) gene was established in 45 Spanish families with a history of ARRP. 9895244 1998