RLBP1, retinaldehyde binding protein 1, 6017

N. diseases: 67; N. variants: 6
Disease: Bothnia Retinal Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		0.900 Biomarker disease MGD Visual cycle impairment in cellular retinaldehyde binding protein (CRALBP) knockout mice results in delayed dark adaptation. 11301032 2001
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		0.900 GeneticVariation disease UNIPROT Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. 10102298 1999
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		0.900 GermlineCausalMutation disease ORPHANET Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. 10102298 1999
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		0.900 GeneticVariation disease CLINVAR
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		0.900 Biomarker disease CTD_human
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		0.900 CausalMutation disease CLINVAR
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		0.900 Biomarker disease GENOMICS_ENGLAND