http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_head http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_assertion http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_assertion http://identifiers.org/ncbigene/4179 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C0497327 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/resource/gda/DGN7a52324bb2cab1f43f0bde9cd04503e1 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4179 http://rdf.disgenet.org/resource/gda/DGN7a52324bb2cab1f43f0bde9cd04503e1 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0497327 http://rdf.disgenet.org/resource/gda/DGN7a52324bb2cab1f43f0bde9cd04503e1 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_provenance http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15009163 http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000212 http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://purl.org/dc/terms/created 2016-05-13T12:45:02+02:00 http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP434807.RA8idZ1pxpVZAVWHBpm-fxb3tUGwO3BlJZNtAzsgGlOkQ http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0