PRPF31, pre-mRNA processing factor 31, 26121

N. diseases: 150; N. variants: 23
Disease: Retinitis Pigmentosa 11 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 Biomarker disease MGD Three gene-targeted mouse models of RNA splicing factor RP show late-onset RPE and retinal degeneration. 20811066 2011
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 GeneticVariation disease BEFREE Missense mutations in the splicing factor gene PRPF31 cause a dominant form of retinitis pigmentosa (RP11) with reduced penetrance. 18431455 2008
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 Biomarker disease BEFREE Genes coding for components of the U4/U6.U5 tri small nuclear ribonucleoprotein (tri-snRNP) complex of the spliceosome stand out, because mutations in four genes cause RP, i.e., RP9 (PAP1), RP11 (PRPF31), RP13 (PRPF8), and RP18 (PRPF3), while there is no degeneration outside the retina despite global expression of these genes. 18334927 2008
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 GeneticVariation disease UNIPROT Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. 17412961 2007
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 GeneticVariation disease BEFREE Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications. 17295140 2007
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 AlteredExpression disease BEFREE Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. 16708387 2006
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 GeneticVariation disease UNIPROT Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family. 12923864 2003
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 GeneticVariation disease UNIPROT Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. 12444105 2002
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 GeneticVariation disease BEFREE This study investigates the functional consequences of two mutations, A194E and A216P, in the splicing factor gene PRPF31 linked to autosomal dominant retinitis pigmentosa (RP11). 12444105 2002
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 GeneticVariation disease UNIPROT A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). 11545739 2001
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 GeneticVariation disease UNIPROT Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. 8808602 1996
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 CausalMutation disease CLINVAR
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 Biomarker disease GENOMICS_ENGLAND
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 Biomarker disease CTD_human
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 Biomarker disease GENOMICS_ENGLAND