http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0#head http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0#assertion http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0#provenance http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0#assertion http://rdf.disgenet.org/resource/gda/DGN8cd3fed891398505bb7c23298586863d http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/2697 http://rdf.disgenet.org/resource/gda/DGN8cd3fed891398505bb7c23298586863d http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0017601 http://rdf.disgenet.org/resource/gda/DGN8cd3fed891398505bb7c23298586863d http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0#provenance http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0#assertion http://purl.org/dc/terms/description [In this family harboring both structural alterations, two patients who carried the GJA1 (Ala253Val) and FOXC1 (Trp152STOP) mutations developed less severe glaucoma compared with family members presenting the FOXC1 (Trp152STOP) mutation alone.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0#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/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16638984 http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/BEFREE http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0#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/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://purl.org/dc/terms/created 2017-10-17T13:12:59+02:00 http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP440315.RAs6vD5z7y-x8ABJcXfHQ0EDyG4AlEayb7POCR-RQIpt0 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