http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_head
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion
http://identifiers.org/ncbigene/5080
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/C0344559
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/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/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_provenance
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_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/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/10441571
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v4.0.0/void/uniprot-2016
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v4.0.0/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/v4.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v4.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/v4.0.0/void/uniprot-2016
http://purl.org/pav/importedOn
2016-01-25
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk130_publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://purl.org/dc/terms/created
2016-05-13T12:41:50+02:00
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v4.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v4.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP318.RAYNXyX9QSykHN7pZBYawslpBzzOGis983Gwc2WTmivDk
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