Disease: Retinitis Pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs267606691
rs267606691
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0035334
Disease:
Retinitis Pigmentosa 		0.710 GeneticVariation BEFREE Mutation analysis detected a 1 bp deletion (c.946 del; p.Asn237MetfsX5) segregating with RP in the Dutch family, whereas a nonsense mutation (c.556C > T; p.Gln186X) was identified in the Israeli family. 20398884 2010
dbSNP: rs267606691
rs267606691
Entrez Id: 388939
Gene Symbol: PCARE
PCARE
CUI: C0035334
Disease:
Retinitis Pigmentosa 		A 0.710 CausalMutation CLINVAR