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- source_evidence_literature type ECO_0000212 NP1066807.RAW-diszYO10uIMKlHJKUZowIpVLjccACXrOCFXVCMeAA130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1066807.RAW-diszYO10uIMKlHJKUZowIpVLjccACXrOCFXVCMeAA130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1066807.RAW-diszYO10uIMKlHJKUZowIpVLjccACXrOCFXVCMeAA130_provenance.
- NP1066807.RAW-diszYO10uIMKlHJKUZowIpVLjccACXrOCFXVCMeAA130_assertion description "[The growing list ofneurodegenerative and neuromuscular diseases caused by dynamic mutations includes Huntington's disease (HD), spinobulbar muscular atrophy (SBMA), dentatorubral-pallidoluysian atrophy (DRPLA), a number of spinocerebellar ataxias (SCAs), oculopharyngeal muscular dystrophy (OPMD), myotonic dystrophy Type 1 and 2 (DM1 and 2), Huntington's disease-like 2 (HDL-2), Friedrich's ataxia (FRDA), Fragile X associated tremor ataxia syndrome (FXTAS), Fragile XE (FRAXE) and Fragile XA (FRAXA).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1066807.RAW-diszYO10uIMKlHJKUZowIpVLjccACXrOCFXVCMeAA130_provenance.
- NP1066807.RAW-diszYO10uIMKlHJKUZowIpVLjccACXrOCFXVCMeAA130_assertion evidence source_evidence_literature NP1066807.RAW-diszYO10uIMKlHJKUZowIpVLjccACXrOCFXVCMeAA130_provenance.
- NP1066807.RAW-diszYO10uIMKlHJKUZowIpVLjccACXrOCFXVCMeAA130_assertion SIO_000772 23560305 NP1066807.RAW-diszYO10uIMKlHJKUZowIpVLjccACXrOCFXVCMeAA130_provenance.
- NP1066807.RAW-diszYO10uIMKlHJKUZowIpVLjccACXrOCFXVCMeAA130_assertion wasDerivedFrom befree-2016 NP1066807.RAW-diszYO10uIMKlHJKUZowIpVLjccACXrOCFXVCMeAA130_provenance.
- NP1066807.RAW-diszYO10uIMKlHJKUZowIpVLjccACXrOCFXVCMeAA130_assertion wasGeneratedBy ECO_0000203 NP1066807.RAW-diszYO10uIMKlHJKUZowIpVLjccACXrOCFXVCMeAA130_provenance.
- befree-2016 importedOn "2016-02-19" NP1066807.RAW-diszYO10uIMKlHJKUZowIpVLjccACXrOCFXVCMeAA130_provenance.