@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP384032.RAOD0R95MriKG9vkQk6XYiSU6qMSxUlst7l55amXFHVmk
> .
@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:NP384032.RAOD0R95MriKG9vkQk6XYiSU6qMSxUlst7l55amXFHVmk130_head
{
this:
np:hasAssertion
dgn-np:NP384032.RAOD0R95MriKG9vkQk6XYiSU6qMSxUlst7l55amXFHVmk130_assertion
;
np:hasProvenance
dgn-np:NP384032.RAOD0R95MriKG9vkQk6XYiSU6qMSxUlst7l55amXFHVmk130_provenance
;
np:hasPublicationInfo
dgn-np:NP384032.RAOD0R95MriKG9vkQk6XYiSU6qMSxUlst7l55amXFHVmk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP384032.RAOD0R95MriKG9vkQk6XYiSU6qMSxUlst7l55amXFHVmk130_assertion
a
np:Assertion
.
dgn-np:NP384032.RAOD0R95MriKG9vkQk6XYiSU6qMSxUlst7l55amXFHVmk130_provenance
a
np:Provenance
.
dgn-np:NP384032.RAOD0R95MriKG9vkQk6XYiSU6qMSxUlst7l55amXFHVmk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP384032.RAOD0R95MriKG9vkQk6XYiSU6qMSxUlst7l55amXFHVmk130_assertion
{
miriam-gene:7038
a
ncit:C16612
.
lld:C0023895
a
ncit:C7057
.
dgn-gda:DGN9bcfa235ea317bb8fb16b9dc4f85b3d8
sio:SIO_000628
miriam-gene:7038
,
lld:C0023895
;
a
sio:SIO_001121
.
}
dgn-np:NP384032.RAOD0R95MriKG9vkQk6XYiSU6qMSxUlst7l55amXFHVmk130_provenance
{
dgn-np:NP384032.RAOD0R95MriKG9vkQk6XYiSU6qMSxUlst7l55amXFHVmk130_assertion
dcterms:description
"[Both patients presented with neonatal diabetes mellitus, severe resistant hypothyroidism in the presence of elevated thyroglobulin and normal thyroid anatomy, degenerative liver disease, cystic renal dysplasia, recurrent infections and facial dysmorphism.]. 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:21139041
;
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:NP384032.RAOD0R95MriKG9vkQk6XYiSU6qMSxUlst7l55amXFHVmk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:48+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" .
}