http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_head http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_assertion http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_provenance http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_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/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_provenance http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_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/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v4.0.0/void/source_evidence_literature http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/19956411 http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000203 http://rdf.disgenet.org/v4.0.0/void/befree-2016 http://purl.org/pav/importedOn 2016-02-19 http://rdf.disgenet.org/v4.0.0/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/v4.0.0/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/v4.0.0/void/source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws130_publicationInfo http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://purl.org/dc/terms/created 2016-05-13T12:47:38+02:00 http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v4.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP779074.RA54AmcOG_RywRCexxs1aVAGigj3-Wef2PjEvhW77--Ws http://purl.org/pav/version v4.0.0.0 http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf http://purl.org/pav/version v4.0.0