@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8
> .
@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:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_head
{
this:
np:hasAssertion
dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_assertion
;
np:hasProvenance
dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_provenance
;
np:hasPublicationInfo
dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_assertion
a
np:Assertion
.
dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_provenance
a
np:Provenance
.
dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_assertion
{
miriam-gene:2304
a
ncit:C16612
.
lld:C1563716
a
ncit:C7057
.
dgn-gda:DGNd2a133b334ae1b556d739833c4415b9c
sio:SIO_000628
miriam-gene:2304
,
lld:C1563716
;
a
sio:SIO_001121
.
}
dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_provenance
{
dgn-np:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_assertion
dcterms:description
"[Most permanent cases (80-85%) result from alterations in the formation of the thyroid gland during embryogenesis (thyroid dysgenesis), and several were shown recently to be produced by mutations in genes responsible for the development of thyroid follicular cells (TITF1, TITF2, PAX8 and TSHR).]. 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:10637573
;
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:NP247880.RADtsaXWh_i4ADrEe1DrnHFcluh8wYKOVqSwe_o1UlFe8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:18+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" .
}