http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc#head http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc#assertion http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc#provenance http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc#assertion http://rdf.disgenet.org/resource/gda/DGN24c437ab27320f10e6f48552177f7695 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5727 http://rdf.disgenet.org/resource/gda/DGN24c437ab27320f10e6f48552177f7695 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C3811653 http://rdf.disgenet.org/resource/gda/DGN24c437ab27320f10e6f48552177f7695 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc#provenance http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc#assertion http://purl.org/dc/terms/description [Germline mutations of the human patched gene, PTCH, are responsible for the nevoid basal cell carcinoma (NBCC) syndrome or Gorlin's syndrome, characterized by multiple skin cancers, internal cancers and severe developmental abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc#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/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10838143 http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc#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/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://purl.org/dc/terms/created 2017-10-17T13:15:44+02:00 http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP871106.RAle4M0DUjO_KAgNYlSXaxrqMCBfOoIGx6sIDbOBkofUc 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