@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP630330.RAkH363QJSYnLd82b9a3sqJ2X7A3n-lud2S-IAr2dKEoc
> .
@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:NP630330.RAkH363QJSYnLd82b9a3sqJ2X7A3n-lud2S-IAr2dKEoc130_head
{
this:
np:hasAssertion
dgn-np:NP630330.RAkH363QJSYnLd82b9a3sqJ2X7A3n-lud2S-IAr2dKEoc130_assertion
;
np:hasProvenance
dgn-np:NP630330.RAkH363QJSYnLd82b9a3sqJ2X7A3n-lud2S-IAr2dKEoc130_provenance
;
np:hasPublicationInfo
dgn-np:NP630330.RAkH363QJSYnLd82b9a3sqJ2X7A3n-lud2S-IAr2dKEoc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP630330.RAkH363QJSYnLd82b9a3sqJ2X7A3n-lud2S-IAr2dKEoc130_assertion
a
np:Assertion
.
dgn-np:NP630330.RAkH363QJSYnLd82b9a3sqJ2X7A3n-lud2S-IAr2dKEoc130_provenance
a
np:Provenance
.
dgn-np:NP630330.RAkH363QJSYnLd82b9a3sqJ2X7A3n-lud2S-IAr2dKEoc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP630330.RAkH363QJSYnLd82b9a3sqJ2X7A3n-lud2S-IAr2dKEoc130_assertion
{
miriam-gene:55636
a
ncit:C16612
.
lld:C0271623
a
ncit:C7057
.
dgn-gda:DGN95ab9253a666803910eda88f3d9316ab
sio:SIO_000628
miriam-gene:55636
,
lld:C0271623
;
a
sio:SIO_001121
.
}
dgn-np:NP630330.RAkH363QJSYnLd82b9a3sqJ2X7A3n-lud2S-IAr2dKEoc130_provenance
{
dgn-np:NP630330.RAkH363QJSYnLd82b9a3sqJ2X7A3n-lud2S-IAr2dKEoc130_assertion
dcterms:description
"[We now report the cases of nine individuals with CHARGE association and hypogonadotropic hypogonadism, manifested by hypogenitalism and gonadotropins at or below minimal detectable levels at ages when these hormones should be readily measurable.]. 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:10995509
;
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:NP630330.RAkH363QJSYnLd82b9a3sqJ2X7A3n-lud2S-IAr2dKEoc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:20+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" .
}