http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#head
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#assertion
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#provenance
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#assertion
http://rdf.disgenet.org/resource/gda/DGNebe520303459783d823c8eb31f32398e
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/5080
http://rdf.disgenet.org/resource/gda/DGNebe520303459783d823c8eb31f32398e
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1853230
http://rdf.disgenet.org/resource/gda/DGNebe520303459783d823c8eb31f32398e
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#provenance
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#assertion
http://purl.org/dc/terms/description
[While A/M has been reported as a rare feature, this is the first report of congenital primary aphakia in association with PAX6 and the identified allele represents the first variant in the PAX6 homeodomain to be associated with A/M.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#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/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/26130484
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/BEFREE
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#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/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://purl.org/dc/terms/created
2017-10-17T13:15:12+02:00
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP788653.RAGZJ8sI4SB_RUgBU-9UjNw1Pb4IYrxi7-r7RSfnEhdAM
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