Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.450 | GeneticVariation | disease | BEFREE | Pre-mRNA processing factor 4 (PRPF4), a core protein in U4/U6 snRNP, maintains snRNP structures by interacting with PRPF3 and cyclophilin H. Expression of the PRPF4 gene affects cell survival as well as apoptosis and is responsible for retinitis pigmentosa (RP). | 31445970 | 2019 | ||||
|
0.450 | GeneticVariation | disease | BEFREE | Our study expands the spectrum of PRPF3 mutations in RP. | 27886254 | 2016 | ||||
|
0.450 | GeneticVariation | disease | BEFREE | To characterize the clinical, psychophysical, and electrophysiological phenotypes in a five-generation Swiss family with dominantly inherited retinitis pigmentosa caused by a T494M mutation in the Precursor mRNA-Processing factor 3 (PRPF3) gene, and to relate the phenotype to the underlying genetic mutation. | 20309403 | 2010 | ||||
|
0.450 | PosttranslationalModification | disease | LHGDN | Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex. | 17932117 | 2008 | ||||
|
0.450 | GeneticVariation | disease | BEFREE | Mutation in the splicing factor Hprp3p linked to retinitis pigmentosa impairs interactions within the U4/U6 snRNP complex. | 17932117 | 2008 | ||||
|
0.450 | GeneticVariation | disease | BEFREE | A locus (RP18) for autosomal dominant RP was previously mapped by linkage analysis in two large pedigrees to chromosome 1p13-q21. | 11773002 | 2002 | ||||
|
0.450 | GeneticVariation | disease | LHGDN | A locus (RP18) for autosomal dominant RP was previously mapped by linkage analysis in two large pedigrees to chromosome 1p13-q21. | 11773002 | 2002 | ||||
|
0.450 | CausalMutation | disease | CLINVAR | |||||||
|
0.450 | Biomarker | disease | GENOMICS_ENGLAND |