http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_head http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_assertion http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_provenance http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_assertion http://identifiers.org/ncbigene/5015 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/C0339527 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/DGN6b310f2c5c8133ba7a6a54d59212d9e6 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5015 http://rdf.disgenet.org/resource/gda/DGN6b310f2c5c8133ba7a6a54d59212d9e6 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0339527 http://rdf.disgenet.org/resource/gda/DGN6b310f2c5c8133ba7a6a54d59212d9e6 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_provenance http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_assertion http://purl.org/dc/terms/description [Mutations in OTX2 have been reported in association with major developmental malformations of the eye, with retinal dystrophies such as LCA, and with pituitary dysfunction and seizure activity in some cases.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_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/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19956411 http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v3.0.0/void/befree-20150227 http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_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/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://purl.org/dc/terms/created 2015-08-25T14:43:41+02:00 http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v3.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v3.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP604254.RA3WCaK5TpL5KgQckOoA5oAM2YV9p_ngIj6IfwrTTCoqw 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