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- source_evidence_literature type ECO_0000212 NP541641.RAI0jgRAAk1nFEWSD_R6fuzZsO6z9WyealBERi8tKBk9k130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP541641.RAI0jgRAAk1nFEWSD_R6fuzZsO6z9WyealBERi8tKBk9k130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP541641.RAI0jgRAAk1nFEWSD_R6fuzZsO6z9WyealBERi8tKBk9k130_provenance.
- NP541641.RAI0jgRAAk1nFEWSD_R6fuzZsO6z9WyealBERi8tKBk9k130_assertion description "[Dominantly transmitted cases had (CAG)(n) expansions at the Machado-Joseph disease gene (MJD1) (63%), at SCA2 (3%), the gene for dentatorubropallidoluysian atrophy (DRPLA) (2%), SCA6 (1%), or SCA7 (1%) loci, or (CTG)(n) expansions at the SCA8 (2%) gene, whereas (GAA)(n) expansions in the Freidreich ataxia gene (FRDA) were found in 64% of families with recessive ataxia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP541641.RAI0jgRAAk1nFEWSD_R6fuzZsO6z9WyealBERi8tKBk9k130_provenance.
- NP541641.RAI0jgRAAk1nFEWSD_R6fuzZsO6z9WyealBERi8tKBk9k130_assertion evidence source_evidence_literature NP541641.RAI0jgRAAk1nFEWSD_R6fuzZsO6z9WyealBERi8tKBk9k130_provenance.
- NP541641.RAI0jgRAAk1nFEWSD_R6fuzZsO6z9WyealBERi8tKBk9k130_assertion SIO_000772 11939898 NP541641.RAI0jgRAAk1nFEWSD_R6fuzZsO6z9WyealBERi8tKBk9k130_provenance.
- NP541641.RAI0jgRAAk1nFEWSD_R6fuzZsO6z9WyealBERi8tKBk9k130_assertion wasDerivedFrom befree-20150227 NP541641.RAI0jgRAAk1nFEWSD_R6fuzZsO6z9WyealBERi8tKBk9k130_provenance.
- NP541641.RAI0jgRAAk1nFEWSD_R6fuzZsO6z9WyealBERi8tKBk9k130_assertion wasGeneratedBy ECO_0000203 NP541641.RAI0jgRAAk1nFEWSD_R6fuzZsO6z9WyealBERi8tKBk9k130_provenance.
- befree-20150227 importedOn "2015-02-27" NP541641.RAI0jgRAAk1nFEWSD_R6fuzZsO6z9WyealBERi8tKBk9k130_provenance.