Source: ALL
Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.700 | GeneticVariation | disease | UNIPROT | Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa. | 24319334 | 2013 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Contribution of SNRNP200 sequence variations to retinitis pigmentosa. | 23887765 | 2013 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chinese family. | 23029027 | 2012 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Structural basis for functional cooperation between tandem helicase cassettes in Brr2-mediated remodeling of the spliceosome. | 23045696 | 2012 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. | 21618346 | 2011 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family. | 19710410 | 2010 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. | 19878916 | 2009 | ||||
|
0.700 | GeneticVariation | disease | UNIPROT | The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. | 16723661 | 2006 | ||||
|
0.700 | CausalMutation | disease | CLINVAR | |||||||
|
0.700 | Biomarker | disease | CTD_human | |||||||
|
0.700 | Biomarker | disease | GENOMICS_ENGLAND | |||||||
|
0.300 | Biomarker | disease | GENOMICS_ENGLAND |