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- source_evidence_literature type ECO_0000212 NP549685.RABn1pr__7_vyGWhLq4ZXocZO87n6DOJxQ6H9aCkrzxYE130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP549685.RABn1pr__7_vyGWhLq4ZXocZO87n6DOJxQ6H9aCkrzxYE130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP549685.RABn1pr__7_vyGWhLq4ZXocZO87n6DOJxQ6H9aCkrzxYE130_provenance.
- NP549685.RABn1pr__7_vyGWhLq4ZXocZO87n6DOJxQ6H9aCkrzxYE130_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." NP549685.RABn1pr__7_vyGWhLq4ZXocZO87n6DOJxQ6H9aCkrzxYE130_provenance.
- NP549685.RABn1pr__7_vyGWhLq4ZXocZO87n6DOJxQ6H9aCkrzxYE130_assertion evidence source_evidence_literature NP549685.RABn1pr__7_vyGWhLq4ZXocZO87n6DOJxQ6H9aCkrzxYE130_provenance.
- NP549685.RABn1pr__7_vyGWhLq4ZXocZO87n6DOJxQ6H9aCkrzxYE130_assertion SIO_000772 15009163 NP549685.RABn1pr__7_vyGWhLq4ZXocZO87n6DOJxQ6H9aCkrzxYE130_provenance.
- NP549685.RABn1pr__7_vyGWhLq4ZXocZO87n6DOJxQ6H9aCkrzxYE130_assertion wasDerivedFrom befree-20150227 NP549685.RABn1pr__7_vyGWhLq4ZXocZO87n6DOJxQ6H9aCkrzxYE130_provenance.
- NP549685.RABn1pr__7_vyGWhLq4ZXocZO87n6DOJxQ6H9aCkrzxYE130_assertion wasGeneratedBy ECO_0000203 NP549685.RABn1pr__7_vyGWhLq4ZXocZO87n6DOJxQ6H9aCkrzxYE130_provenance.
- befree-20150227 importedOn "2015-02-27" NP549685.RABn1pr__7_vyGWhLq4ZXocZO87n6DOJxQ6H9aCkrzxYE130_provenance.