http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg#head http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg#assertion http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg#provenance http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg#assertion http://rdf.disgenet.org/resource/gda/DGN8dc76a15953f2d2a10dcab6ee09c7a62 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/8820 http://rdf.disgenet.org/resource/gda/DGN8dc76a15953f2d2a10dcab6ee09c7a62 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0338503 http://rdf.disgenet.org/resource/gda/DGN8dc76a15953f2d2a10dcab6ee09c7a62 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg#provenance http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg#assertion http://purl.org/dc/terms/description [The presence of a heterozygous HESX1 mutation in one case suggests this gene is important in the development of both ectopic posterior pituitary lobe and periventricular heterotopia and supports their place in the spectrum of septo-optic dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg#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/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/12372734 http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg#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/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://purl.org/dc/terms/created 2017-10-17T13:17:35+02:00 http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP1160381.RA0RadMC_frXKVJiS9UlE475h6Irru-sRuQVMiTy27dhg 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