@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP379861.RAOifxFmlfdg3MGnS_bs6GymMarVvkDR8iVxnLNLsvtKc
> .
@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 dcterms: <
http://purl.org/dc/terms/
> .
@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:NP379861.RAOifxFmlfdg3MGnS_bs6GymMarVvkDR8iVxnLNLsvtKc130_head
{
this:
np:hasAssertion
dgn-np:NP379861.RAOifxFmlfdg3MGnS_bs6GymMarVvkDR8iVxnLNLsvtKc130_assertion
;
np:hasProvenance
dgn-np:NP379861.RAOifxFmlfdg3MGnS_bs6GymMarVvkDR8iVxnLNLsvtKc130_provenance
;
np:hasPublicationInfo
dgn-np:NP379861.RAOifxFmlfdg3MGnS_bs6GymMarVvkDR8iVxnLNLsvtKc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP379861.RAOifxFmlfdg3MGnS_bs6GymMarVvkDR8iVxnLNLsvtKc130_assertion
a
np:Assertion
.
dgn-np:NP379861.RAOifxFmlfdg3MGnS_bs6GymMarVvkDR8iVxnLNLsvtKc130_provenance
a
np:Provenance
.
dgn-np:NP379861.RAOifxFmlfdg3MGnS_bs6GymMarVvkDR8iVxnLNLsvtKc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP379861.RAOifxFmlfdg3MGnS_bs6GymMarVvkDR8iVxnLNLsvtKc130_assertion
{
miriam-gene:203068
a
ncit:C16612
.
lld:C0022521
a
ncit:C7057
.
dgn-gda:DGN36bf5509d09a90eea28046dbd855c070
sio:SIO_000628
miriam-gene:203068
,
lld:C0022521
;
a
sio:SIO_001121
.
}
dgn-np:NP379861.RAOifxFmlfdg3MGnS_bs6GymMarVvkDR8iVxnLNLsvtKc130_provenance
{
dgn-np:NP379861.RAOifxFmlfdg3MGnS_bs6GymMarVvkDR8iVxnLNLsvtKc130_assertion
dcterms:description
"[The possible involvement of the HSET gene and a beta-tubulin gene (TUBB) in the pathogenesis of immotile cilia syndrome (ICS) was studied by screening two unrelated ICS families with microtubular defects and suspected HLA linkage for mutations within the HSET gene and the TUBB gene.]. 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:10369922
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP379861.RAOifxFmlfdg3MGnS_bs6GymMarVvkDR8iVxnLNLsvtKc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:44+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms: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" .
}