@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP81305.RAd--_smKAnlMS6v79xYfXi0Gor4KjRP8sHVPPUbKFEQc
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP81305.RAd--_smKAnlMS6v79xYfXi0Gor4KjRP8sHVPPUbKFEQc130_head
{
this:
np:hasAssertion
dgn-np:NP81305.RAd--_smKAnlMS6v79xYfXi0Gor4KjRP8sHVPPUbKFEQc130_assertion
;
np:hasProvenance
dgn-np:NP81305.RAd--_smKAnlMS6v79xYfXi0Gor4KjRP8sHVPPUbKFEQc130_provenance
;
np:hasPublicationInfo
dgn-np:NP81305.RAd--_smKAnlMS6v79xYfXi0Gor4KjRP8sHVPPUbKFEQc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP81305.RAd--_smKAnlMS6v79xYfXi0Gor4KjRP8sHVPPUbKFEQc130_assertion
a
np:Assertion
.
dgn-np:NP81305.RAd--_smKAnlMS6v79xYfXi0Gor4KjRP8sHVPPUbKFEQc130_provenance
a
np:Provenance
.
dgn-np:NP81305.RAd--_smKAnlMS6v79xYfXi0Gor4KjRP8sHVPPUbKFEQc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP81305.RAd--_smKAnlMS6v79xYfXi0Gor4KjRP8sHVPPUbKFEQc130_assertion
{
miriam-gene:6647
a
ncit:C16612
.
lld:C0022578
a
ncit:C7057
.
dgn-gda:DGNc64c99e6db1a0d3ac0cfb93dd0e89edb
sio:SIO_000628
miriam-gene:6647
,
lld:C0022578
;
a
sio:SIO_001122
.
}
dgn-np:NP81305.RAd--_smKAnlMS6v79xYfXi0Gor4KjRP8sHVPPUbKFEQc130_provenance
{
dgn-np:NP81305.RAd--_smKAnlMS6v79xYfXi0Gor4KjRP8sHVPPUbKFEQc130_assertion
dc:description
"[The absence of pathogenic mutations in VSX1, SOD1, COL4A3, and COL4A4 genes in our large number of unrelated keratoconus patients indicates that other genetic factors are involved in the development of this disorder; nevertheless, a significant correlation of a few polymorphisms indicates that there could be a link between specific polymorphisms and KC disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:20664914
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP81305.RAd--_smKAnlMS6v79xYfXi0Gor4KjRP8sHVPPUbKFEQc130_publicationInfo
{
this:
dc:created
"2014-10-02T12:32:40+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}