@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP744125.RABK9ek0OCwOVdaFO13aHewwkzaktB-NjcFPQYRa9JflA
> .
@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:NP744125.RABK9ek0OCwOVdaFO13aHewwkzaktB-NjcFPQYRa9JflA130_head
{
this:
np:hasAssertion
dgn-np:NP744125.RABK9ek0OCwOVdaFO13aHewwkzaktB-NjcFPQYRa9JflA130_assertion
;
np:hasProvenance
dgn-np:NP744125.RABK9ek0OCwOVdaFO13aHewwkzaktB-NjcFPQYRa9JflA130_provenance
;
np:hasPublicationInfo
dgn-np:NP744125.RABK9ek0OCwOVdaFO13aHewwkzaktB-NjcFPQYRa9JflA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP744125.RABK9ek0OCwOVdaFO13aHewwkzaktB-NjcFPQYRa9JflA130_assertion
a
np:Assertion
.
dgn-np:NP744125.RABK9ek0OCwOVdaFO13aHewwkzaktB-NjcFPQYRa9JflA130_provenance
a
np:Provenance
.
dgn-np:NP744125.RABK9ek0OCwOVdaFO13aHewwkzaktB-NjcFPQYRa9JflA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP744125.RABK9ek0OCwOVdaFO13aHewwkzaktB-NjcFPQYRa9JflA130_assertion
{
miriam-gene:2253
a
ncit:C16612
.
lld:C0022735
a
ncit:C7057
.
dgn-gda:DGNf9e108b67aa8fff51efe7c4f6084f544
sio:SIO_000628
miriam-gene:2253
,
lld:C0022735
;
a
sio:SIO_001121
.
}
dgn-np:NP744125.RABK9ek0OCwOVdaFO13aHewwkzaktB-NjcFPQYRa9JflA130_provenance
{
dgn-np:NP744125.RABK9ek0OCwOVdaFO13aHewwkzaktB-NjcFPQYRa9JflA130_assertion
dcterms:description
"[Substantial variation in clinical expression, from complete anosmia and hypogonadotropic hypogonadism to delayed puberty and normosmia, of the same Kallmann syndrome gene defects including in newer ones (FGF8 and CHD7) continues to be repeatedly observed.]. 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:20543690
;
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:NP744125.RABK9ek0OCwOVdaFO13aHewwkzaktB-NjcFPQYRa9JflA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:31+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" .
}