@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP919599.RAK30W-AZzSyfzMQfYeABM5gnf2iUzXPeWxN9_B2x15b4
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP919599.RAK30W-AZzSyfzMQfYeABM5gnf2iUzXPeWxN9_B2x15b4130_head
{
this:
np:hasAssertion
dgn-np:NP919599.RAK30W-AZzSyfzMQfYeABM5gnf2iUzXPeWxN9_B2x15b4130_assertion
;
np:hasProvenance
dgn-np:NP919599.RAK30W-AZzSyfzMQfYeABM5gnf2iUzXPeWxN9_B2x15b4130_provenance
;
np:hasPublicationInfo
dgn-np:NP919599.RAK30W-AZzSyfzMQfYeABM5gnf2iUzXPeWxN9_B2x15b4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP919599.RAK30W-AZzSyfzMQfYeABM5gnf2iUzXPeWxN9_B2x15b4130_assertion
a
np:Assertion
.
dgn-np:NP919599.RAK30W-AZzSyfzMQfYeABM5gnf2iUzXPeWxN9_B2x15b4130_provenance
a
np:Provenance
.
dgn-np:NP919599.RAK30W-AZzSyfzMQfYeABM5gnf2iUzXPeWxN9_B2x15b4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP919599.RAK30W-AZzSyfzMQfYeABM5gnf2iUzXPeWxN9_B2x15b4130_assertion
{
miriam-gene:55636
a
ncit:C16612
.
lld:C0003126
a
ncit:C7057
.
dgn-gda:DGNbca06e8bb41cc64dc83babaccfa8d41e
sio:SIO_000628
miriam-gene:55636
,
lld:C0003126
;
a
sio:SIO_001121
.
}
dgn-np:NP919599.RAK30W-AZzSyfzMQfYeABM5gnf2iUzXPeWxN9_B2x15b4130_provenance
{
dgn-np:NP919599.RAK30W-AZzSyfzMQfYeABM5gnf2iUzXPeWxN9_B2x15b4130_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-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP919599.RAK30W-AZzSyfzMQfYeABM5gnf2iUzXPeWxN9_B2x15b4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:01+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}