PRPF6, pre-mRNA processing factor 6, 24148

N. diseases: 76; N. variants: 3
Disease: Retinitis Pigmentosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.420 GeneticVariation disease BEFREE In addition, a pAsn477Ser change in the neighboring gene PRPF6, a gene previously found to be associated with retinitis pigmentosa, segregated with the ADKD phenotype. 22235333 2012
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.420 GeneticVariation disease BEFREE Our results identify PRPF6 as the sixth gene involved in pre-mRNA splicing and dominant RP, corroborating the hypothesis that deficiencies in the spliceosome play an important role in the molecular pathology of this disease. 21549338 2011
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.420 GeneticVariation disease CLINVAR
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.420 Biomarker disease GENOMICS_ENGLAND