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- source_evidence_literature type ECO_0000212 NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_provenance.
- NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_assertion description "[Systems frequently affected in MCP are the peripheral nervous system (myopathy, polyneuropathy, lactacidosis), brain (leucencephalopathy, calcifications, stroke-like episodes, atrophy with dementia, epilepsy, upper motor neuron signs, ataxia, extrapyramidal manifestations, fatigue), endocrinium (short stature, hyperhidrosis, diabetes, hyperlipidaemia, hypogonadism, amenorrhoea, delayed puberty), heart (impulse generation or conduction defects, cardiomyopathy, left ventricular non-compaction heart failure), eyes (cataract, glaucoma, pigmentary retinopathy, optic atrophy), ears (deafness, tinnitus, peripheral vertigo), guts (dysphagia, vomiting, diarrhoea, hepatopathy, pseudo-obstruction, pancreatitis, pancreas insufficiency), kidney (renal failure, cysts) and bone marrow (sideroblastic anaemia).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_provenance.
- NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_assertion evidence source_evidence_literature NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_provenance.
- NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_assertion SIO_000772 15009163 NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_provenance.
- NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_assertion wasDerivedFrom befree-20150227 NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_provenance.
- NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_assertion wasGeneratedBy ECO_0000203 NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP280240.RACemjIb3Eu0-tpKQYnC4TiNzQAuVXL0HETZe-qn_DNR0130_provenance.