http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_head http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_assertion http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_provenance http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_assertion http://identifiers.org/ncbigene/6469 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/C0266667 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/DGN4055caf18b167b538291492df2e0f0fe http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/6469 http://rdf.disgenet.org/resource/gda/DGN4055caf18b167b538291492df2e0f0fe http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0266667 http://rdf.disgenet.org/resource/gda/DGN4055caf18b167b538291492df2e0f0fe http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_provenance http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_assertion http://purl.org/dc/terms/description [Heterozygous mutations in the Sonic hedgehog (SHH) gene are the most common genetic lesions associated with HPE, and loss of Shh function in the mouse produces cyclopia and alobar forebrain development.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_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/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16282375 http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_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/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://purl.org/dc/terms/created 2015-08-25T14:44:38+02:00 http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP693501.RAk6HbmXFPuWsw4KpZx-KKvzhnnZP3cLx3BrxwEo7RooI 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