Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 Biomarker disease BEFREE CHOROIDAL AND RETINAL ATROPHY OF BIETTI CRYSTALLINE DYSTROPHY PATIENTS WITH CYP4V2 MUTATIONS COMPARED TO RETINITIS PIGMENTOSA PATIENTS WITH EYS MUTATIONS. 27658286 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation disease BEFREE Choroidal Vasculature in Bietti Crystalline Dystrophy With CYP4V2 Mutations and in Retinitis Pigmentosa With EYS Mutations. 28763560 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation disease CLINVAR Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy. 24480711 2014
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 GeneticVariation disease BEFREE Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa. 22693542 2012
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.430 Biomarker disease GENOMICS_ENGLAND