http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_head http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_assertion http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_provenance http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_assertion http://identifiers.org/ncbigene/4488 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/C0262374 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/DGN4bc3a2a8756a44e28cf46f33ff6bd55e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/4488 http://rdf.disgenet.org/resource/gda/DGN4bc3a2a8756a44e28cf46f33ff6bd55e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0262374 http://rdf.disgenet.org/resource/gda/DGN4bc3a2a8756a44e28cf46f33ff6bd55e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_provenance http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_assertion http://purl.org/dc/terms/description [Recognised clinical signs include EXT, FPP, mental retardation, facial asymmetry, asymmetric calcification of coronary sutures, defective vision (severe myopia, nystagmus, strabismus), skeletal anomalies (small hands and feet, tapering fingers), heart defect, and anal stenosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_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/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/14872200 http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_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/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://purl.org/dc/terms/created 2016-05-13T12:45:00+02:00 http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP431340.RAvTC616CTg8d86HC2xmlAQW9oN9z9LMNCivNwahhAVwM 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