http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_head http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_assertion http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_provenance http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_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/C0026848 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/DGN23c1349a1f791c6ad80628bb08513d4f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4179 http://rdf.disgenet.org/resource/gda/DGN23c1349a1f791c6ad80628bb08513d4f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0026848 http://rdf.disgenet.org/resource/gda/DGN23c1349a1f791c6ad80628bb08513d4f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_provenance http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_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/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v3.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/15009163 http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://purl.org/pav/importedOn 2015-02-27 http://rdf.disgenet.org/v3.0.0/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/v3.0.0/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/v3.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://purl.org/dc/terms/created 2015-08-25T14:43:05+02:00 http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP549732.RANZywqAcE_-LDTAgYb1U1PYgK2xcGHoZ3mehRoedqBNI http://purl.org/pav/version v3.0.0.0 http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v3.0.0