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: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.320 GeneticVariation disease BEFREE Here, we utilize the CRISPR/Cas9 system to generate both the Rp9 gene knockout (KO) and point mutation knock in (KI) (Rp9, c.A386T, P.H129L) which is analogous to the reported one in the retinitis pigmentosa patients (RP9, c.A410T, P.H137L) in 661 W retinal photoreceptor cells in vitro. 28216641 2017
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.320 GeneticVariation disease LHGDN Mutations in a protein target of the Pim-1 kinase associated with the RP9 form of autosomal dominant retinitis pigmentosa. 12032732 2002
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.320 Biomarker disease GENOMICS_ENGLAND