http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_head http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_assertion http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_provenance http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_assertion http://identifiers.org/ncbigene/289 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/C0003119 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/DGNdcb0d016af9c9adf3d5d3e8984fe235f http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/289 http://rdf.disgenet.org/resource/gda/DGNdcb0d016af9c9adf3d5d3e8984fe235f http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0003119 http://rdf.disgenet.org/resource/gda/DGNdcb0d016af9c9adf3d5d3e8984fe235f http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_provenance http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_assertion http://purl.org/dc/terms/description [We have improved the definition of the phenotype in males with anophthalmia linked to the ANOP1 locus, as microcephaly, ocular colobomas, and severe renal malformations have not been described in families linked to ANOP1.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_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/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16114045 http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_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/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://purl.org/dc/terms/created 2015-08-25T14:39:56+02:00 http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP238838.RA8LLWMbyWPYYtZdfhQpIHTXBRdG42bC7N6V3lcVf2iKw 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