http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs#head http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs#assertion http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs#provenance http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs#assertion http://rdf.disgenet.org/resource/gda/DGN33c01ebc91b159d4f9f20fb24e571140 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/5080 http://rdf.disgenet.org/resource/gda/DGN33c01ebc91b159d4f9f20fb24e571140 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C0344559 http://rdf.disgenet.org/resource/gda/DGN33c01ebc91b159d4f9f20fb24e571140 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs#provenance http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs#assertion http://purl.org/dc/terms/description [The PAX6 gene is involved in ocular morphogenesis, and PAX6 mutations have been detected in various types of ocular anomalies, including aniridia, Peters anomaly, corneal dystrophy, congenital cataract, and foveal hypoplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs#assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs#assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/10441571 http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs#assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs#assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/ECO_0000218 http://rdf.disgenet.org/v5.0.0/void/UNIPROT http://purl.org/pav/importedOn 2017-01-25 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/ECO_0000205 http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs#publicationInfo http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://purl.org/dc/terms/created 2017-10-17T13:15:12+02:00 http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v5.0.0/void/IBIGroup http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://purl.org/pav/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://purl.org/pav/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://purl.org/pav/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs http://purl.org/pav/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/resource/nanopub/NP789163.RAgk4lNIpRES4LyNMMd9U60Tn_yGrC7pmsuEpThFmahBs 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