@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP251245.RAz4IDhOVOQUN3Y_lTiezqyvjni5CjRXPdAXwq8KjoDJM
> .
@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:NP251245.RAz4IDhOVOQUN3Y_lTiezqyvjni5CjRXPdAXwq8KjoDJM130_head
{
this:
np:hasAssertion
dgn-np:NP251245.RAz4IDhOVOQUN3Y_lTiezqyvjni5CjRXPdAXwq8KjoDJM130_assertion
;
np:hasProvenance
dgn-np:NP251245.RAz4IDhOVOQUN3Y_lTiezqyvjni5CjRXPdAXwq8KjoDJM130_provenance
;
np:hasPublicationInfo
dgn-np:NP251245.RAz4IDhOVOQUN3Y_lTiezqyvjni5CjRXPdAXwq8KjoDJM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP251245.RAz4IDhOVOQUN3Y_lTiezqyvjni5CjRXPdAXwq8KjoDJM130_assertion
a
np:Assertion
.
dgn-np:NP251245.RAz4IDhOVOQUN3Y_lTiezqyvjni5CjRXPdAXwq8KjoDJM130_provenance
a
np:Provenance
.
dgn-np:NP251245.RAz4IDhOVOQUN3Y_lTiezqyvjni5CjRXPdAXwq8KjoDJM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP251245.RAz4IDhOVOQUN3Y_lTiezqyvjni5CjRXPdAXwq8KjoDJM130_assertion
{
miriam-gene:54113
a
ncit:C16612
.
lld:C0009363
a
ncit:C7057
.
dgn-gda:DGNe2aff6dab247daafa3ae5852f1a2c334
sio:SIO_000628
miriam-gene:54113
,
lld:C0009363
;
a
sio:SIO_001121
.
}
dgn-np:NP251245.RAz4IDhOVOQUN3Y_lTiezqyvjni5CjRXPdAXwq8KjoDJM130_provenance
{
dgn-np:NP251245.RAz4IDhOVOQUN3Y_lTiezqyvjni5CjRXPdAXwq8KjoDJM130_assertion
dcterms:description
"[We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux).]. 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:2051459
;
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:NP251245.RAz4IDhOVOQUN3Y_lTiezqyvjni5CjRXPdAXwq8KjoDJM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:20+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" .
}