RP9, RP9 pre-mRNA splicing factor, 6100

N. diseases: 54; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1301509
Disease: Severe visual impairment
Severe visual impairment
0.010 GeneticVariation disease BEFREE Mutations in the pre-mRNA splicing factor, RP9 (also known as PAP1), predispose autosomal dominant retinitis pigmentosa (adRP) with an early onset and severe vision loss. 28216641 2017