Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10594
Gene Symbol: PRPF8
PRPF8
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.500 GeneticVariation CLINVAR Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). 11468273

2001