Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 GeneticVariation UNIPROT Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. 17412961

2007
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 GeneticVariation UNIPROT Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family. 12923864

2003
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 GeneticVariation UNIPROT Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. 12444105

2002
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 GeneticVariation UNIPROT A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). 11545739

2001
Entrez Id: 26121
Gene Symbol: PRPF31
PRPF31
CUI: C1838601
Disease: Retinitis Pigmentosa 11
Retinitis Pigmentosa 11 		0.950 GeneticVariation UNIPROT Evidence for a major retinitis pigmentosa locus on 19q13.4 (RP11) and association with a unique bimodal expressivity phenotype. 8808602

1996