@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP736896.RA8VTxB2WmzFcJqGCFJU74IclK7ajeD7qM2f5ikw3fJ3E
> .
@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:NP736896.RA8VTxB2WmzFcJqGCFJU74IclK7ajeD7qM2f5ikw3fJ3E130_head
{
this:
np:hasAssertion
dgn-np:NP736896.RA8VTxB2WmzFcJqGCFJU74IclK7ajeD7qM2f5ikw3fJ3E130_assertion
;
np:hasProvenance
dgn-np:NP736896.RA8VTxB2WmzFcJqGCFJU74IclK7ajeD7qM2f5ikw3fJ3E130_provenance
;
np:hasPublicationInfo
dgn-np:NP736896.RA8VTxB2WmzFcJqGCFJU74IclK7ajeD7qM2f5ikw3fJ3E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP736896.RA8VTxB2WmzFcJqGCFJU74IclK7ajeD7qM2f5ikw3fJ3E130_assertion
a
np:Assertion
.
dgn-np:NP736896.RA8VTxB2WmzFcJqGCFJU74IclK7ajeD7qM2f5ikw3fJ3E130_provenance
a
np:Provenance
.
dgn-np:NP736896.RA8VTxB2WmzFcJqGCFJU74IclK7ajeD7qM2f5ikw3fJ3E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP736896.RA8VTxB2WmzFcJqGCFJU74IclK7ajeD7qM2f5ikw3fJ3E130_assertion
{
miriam-gene:3164
a
ncit:C16612
.
lld:C0020676
a
ncit:C7057
.
dgn-gda:DGNf0aac33ec2b178178bf04d6b9106ff85
sio:SIO_000628
miriam-gene:3164
,
lld:C0020676
;
a
sio:SIO_001121
.
}
dgn-np:NP736896.RA8VTxB2WmzFcJqGCFJU74IclK7ajeD7qM2f5ikw3fJ3E130_provenance
{
dgn-np:NP736896.RA8VTxB2WmzFcJqGCFJU74IclK7ajeD7qM2f5ikw3fJ3E130_assertion
dcterms:description
"[We describe the analysis of a thyroid hormone receptor (TR) beta causing resistance to thyroid hormone, the patient exhibiting hypothyroid symptoms (severe mental retardation, hypoactivity, obesity) and hyperthyroid symptoms (tachycardia, low serum cholesterol) and, additionally, relative early puberty, advanced bone age, and short stature.]. 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:9100577
;
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:NP736896.RA8VTxB2WmzFcJqGCFJU74IclK7ajeD7qM2f5ikw3fJ3E130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:27+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" .
}