PRPF8, pre-mRNA processing factor 8, 10594

N. diseases: 70; N. variants: 12
Disease: Retinitis Pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752997229
rs752997229
Entrez Id: 10594;83547
Gene Symbol: PRPF8;RILP
PRPF8;RILP
CUI: C0035334
Disease:
Retinitis Pigmentosa 		C 0.700 GeneticVariation CLINVAR Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). 11468273 2001