@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP852547.RAMMkZqUnFQ_xG9xOAXRcn7t3G7DI2tK3tWFHxyqnIjDs
> .
@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:NP852547.RAMMkZqUnFQ_xG9xOAXRcn7t3G7DI2tK3tWFHxyqnIjDs130_head
{
this:
np:hasAssertion
dgn-np:NP852547.RAMMkZqUnFQ_xG9xOAXRcn7t3G7DI2tK3tWFHxyqnIjDs130_assertion
;
np:hasProvenance
dgn-np:NP852547.RAMMkZqUnFQ_xG9xOAXRcn7t3G7DI2tK3tWFHxyqnIjDs130_provenance
;
np:hasPublicationInfo
dgn-np:NP852547.RAMMkZqUnFQ_xG9xOAXRcn7t3G7DI2tK3tWFHxyqnIjDs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP852547.RAMMkZqUnFQ_xG9xOAXRcn7t3G7DI2tK3tWFHxyqnIjDs130_assertion
a
np:Assertion
.
dgn-np:NP852547.RAMMkZqUnFQ_xG9xOAXRcn7t3G7DI2tK3tWFHxyqnIjDs130_provenance
a
np:Provenance
.
dgn-np:NP852547.RAMMkZqUnFQ_xG9xOAXRcn7t3G7DI2tK3tWFHxyqnIjDs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP852547.RAMMkZqUnFQ_xG9xOAXRcn7t3G7DI2tK3tWFHxyqnIjDs130_assertion
{
miriam-gene:3897
a
ncit:C16612
.
lld:C0733682
a
ncit:C7057
.
dgn-gda:DGN8d8b0d774d6f4cdae9292a44cc222aed
sio:SIO_000628
miriam-gene:3897
,
lld:C0733682
;
a
sio:SIO_001121
.
}
dgn-np:NP852547.RAMMkZqUnFQ_xG9xOAXRcn7t3G7DI2tK3tWFHxyqnIjDs130_provenance
{
dgn-np:NP852547.RAMMkZqUnFQ_xG9xOAXRcn7t3G7DI2tK3tWFHxyqnIjDs130_assertion
dcterms:description
"[While it is obvious that additional studies are necessary to further delineate the association between XLH and HSCR in the presence of L1CAM mutations, the documentation of this new patient reinforces the role of this gene acting either in a direct or indirect way in the pathogenesis of Hirschsprung 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:22344793
;
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:NP852547.RAMMkZqUnFQ_xG9xOAXRcn7t3G7DI2tK3tWFHxyqnIjDs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:41+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" .
}