http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_head
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Assertion
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Provenance
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_publicationInfo
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#PublicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion
http://identifiers.org/ncbigene/2697
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/C0017601
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/gene-disease-association.ttl#DGNd63114d13051f5daec5b3c208a015605
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/2697
http://rdf.disgenet.org/gene-disease-association.ttl#DGNd63114d13051f5daec5b3c208a015605
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0017601
http://rdf.disgenet.org/gene-disease-association.ttl#DGNd63114d13051f5daec5b3c208a015605
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_provenance
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_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/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/16638984
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/eco.owl#ECO_0000203
http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225
http://purl.org/pav/2.0/importedOn
2014-02-25
http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/eco.owl#ECO_0000212
http://rdf.disgenet.org/v2.1.0/void.ttl#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/v2.1.0/void.ttl#source_evidence_literature
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - LITERATURE
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM130_publicationInfo
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://purl.org/dc/terms/created
2014-10-02T12:37:57+02:00
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://purl.org/pav/2.0/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://purl.org/pav/2.0/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/nanopublications.trig#NP593929.RA5JECL6XjZUDaUTfpJQOsaNNy7On3uztxT5t6rVMJ2wM
http://purl.org/pav/2.0/version
v2.1.0.0
http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf
http://purl.org/pav/2.0/version
v2.1.0