http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ#head http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ#assertion http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ#provenance http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ#assertion http://rdf.disgenet.org/resource/gda/DGN4870f3788b9b59461c1a1e282b55db87 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/10585 http://rdf.disgenet.org/resource/gda/DGN4870f3788b9b59461c1a1e282b55db87 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0265221 http://rdf.disgenet.org/resource/gda/DGN4870f3788b9b59461c1a1e282b55db87 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ#provenance http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ#assertion http://purl.org/dc/terms/description [While initially a clear correlation between gene defect and phenotype was observed for each of these 6 genes (for example, Walker Warburg syndrome was associated with mutations in POMT1 and POMT2, Fukuyama congenital muscular dystrophy associated with fukutin mutations, and Muscle Eye Brain disease associated with POMGnT1 mutations), we have recently demonstrated that allelic mutations in each of these 6 genes can result in a much wider spectrum of clinical conditions.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/18646561 http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v5.0.0/void/BEFREE http://purl.org/pav/importedOn 2017-02-19 http://rdf.disgenet.org/v5.0.0/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/v5.0.0/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/v5.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://purl.org/dc/terms/created 2017-10-17T13:17:59+02:00 http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1222514.RAa80xBRnU7N7RgeoUdypWfGrgGmUSmC7Onr_uE9XVLeQ http://purl.org/pav/version v5.0.0.0 http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v5.0.0