Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 CausalMutation CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376

2015
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 CausalMutation CLINVAR Novel C2orf71 mutations account for ∼1% of cases in a large French arRP cohort. 21412943

2011
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 GeneticVariation CLINVAR