PRPF8, pre-mRNA processing factor 8, 10594

N. diseases: 70; N. variants: 12
Disease: Retinitis Pigmentosa 13 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434240
rs121434240
Entrez Id: 10594;83547
Gene Symbol: PRPF8;RILP
PRPF8;RILP
CUI: C1838702
Disease:
Retinitis Pigmentosa 13 		0.800 GeneticVariation UNIPROT Structure of a multipartite protein-protein interaction domain in splicing factor prp8 and its link to retinitis pigmentosa. 17317632 2007
dbSNP: rs121434240
rs121434240
Entrez Id: 10594;83547
Gene Symbol: PRPF8;RILP
PRPF8;RILP
CUI: C1838702
Disease:
Retinitis Pigmentosa 13 		0.800 GeneticVariation UNIPROT Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. 12714658 2003
dbSNP: rs121434240
rs121434240
Entrez Id: 10594;83547
Gene Symbol: PRPF8;RILP
PRPF8;RILP
CUI: C1838702
Disease:
Retinitis Pigmentosa 13 		0.800 GeneticVariation UNIPROT Clinical characterization, linkage analysis, and PRPC8 mutation analysis of a family with autosomal dominant retinitis pigmentosa type 13 (RP13). 11910553 2002
dbSNP: rs121434240
rs121434240
Entrez Id: 10594;83547
Gene Symbol: PRPF8;RILP
PRPF8;RILP
CUI: C1838702
Disease:
Retinitis Pigmentosa 13 		0.800 GeneticVariation UNIPROT Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13). 11468273 2001
dbSNP: rs121434240
rs121434240
Entrez Id: 10594;83547
Gene Symbol: PRPF8;RILP
PRPF8;RILP
CUI: C1838702
Disease:
Retinitis Pigmentosa 13 		C 0.800 CausalMutation CLINVAR