PRPF8, pre-mRNA processing factor 8, 10594

N. diseases: 70; N. variants: 12
Disease: Autosomal dominant retinitis pigmentosa ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434238
rs121434238
Entrez Id: 10594;83547
Gene Symbol: PRPF8;RILP
PRPF8;RILP
CUI: C0339525
Disease:
Autosomal dominant retinitis pigmentosa 		0.010 GeneticVariation BEFREE Importantly, autosomal dominant retinitis pigmentosa (adRP)-associated PRPF8 mutant R2310K is defective in regulating mitophagy. 30103670 2018