Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9128
Gene Symbol: PRPF4
PRPF4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.330 GermlineCausalMutation ORPHANET Here, we identified two heterozygous variants in PRPF4, including c.-114_-97del in a simplex RP patient and c.C944T (p.Pro315Leu), which co-segregates with disease phenotype in a family with adRP. 24419317

2014