Disease: RETINITIS PIGMENTOSA 54 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 Biomarker disease MGD Animals deficient in C2Orf71, an autosomal recessive retinitis pigmentosa-associated locus, develop severe early-onset retinal degeneration. 25616964 2015
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 GeneticVariation disease UNIPROT Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. 21412943 2011
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 GeneticVariation disease UNIPROT Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. 20398884 2010
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 GeneticVariation disease UNIPROT Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. 20398886 2010
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 Biomarker disease CTD_human
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C3150691
Disease: RETINITIS PIGMENTOSA 54
RETINITIS PIGMENTOSA 54 		0.900 CausalMutation disease CLINVAR