Disease: RETINITIS PIGMENTOSA 54 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201284350
rs201284350
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		0.700 GeneticVariation UNIPROT Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. 21412943 2011
dbSNP: rs201284350
rs201284350
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		0.700 GeneticVariation UNIPROT Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71. 20398886 2010
dbSNP: rs201284350
rs201284350
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C3150691
Disease:
RETINITIS PIGMENTOSA 54 		0.700 GeneticVariation UNIPROT Mutations in C2ORF71 cause autosomal-recessive retinitis pigmentosa. 20398884 2010