@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP255601.RAuU7VKYZpnuIEpagcKsw_NuLom4T6QXT2hAHlx8Bww8c
> .
@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:NP255601.RAuU7VKYZpnuIEpagcKsw_NuLom4T6QXT2hAHlx8Bww8c130_head
{
this:
np:hasAssertion
dgn-np:NP255601.RAuU7VKYZpnuIEpagcKsw_NuLom4T6QXT2hAHlx8Bww8c130_assertion
;
np:hasProvenance
dgn-np:NP255601.RAuU7VKYZpnuIEpagcKsw_NuLom4T6QXT2hAHlx8Bww8c130_provenance
;
np:hasPublicationInfo
dgn-np:NP255601.RAuU7VKYZpnuIEpagcKsw_NuLom4T6QXT2hAHlx8Bww8c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP255601.RAuU7VKYZpnuIEpagcKsw_NuLom4T6QXT2hAHlx8Bww8c130_assertion
a
np:Assertion
.
dgn-np:NP255601.RAuU7VKYZpnuIEpagcKsw_NuLom4T6QXT2hAHlx8Bww8c130_provenance
a
np:Provenance
.
dgn-np:NP255601.RAuU7VKYZpnuIEpagcKsw_NuLom4T6QXT2hAHlx8Bww8c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP255601.RAuU7VKYZpnuIEpagcKsw_NuLom4T6QXT2hAHlx8Bww8c130_assertion
{
miriam-gene:128674
a
ncit:C16612
.
lld:C0162809
a
ncit:C7057
.
dgn-gda:DGNc90f6e8c160b2024007572e8988b223e
sio:SIO_000628
miriam-gene:128674
,
lld:C0162809
;
a
sio:SIO_001121
.
}
dgn-np:NP255601.RAuU7VKYZpnuIEpagcKsw_NuLom4T6QXT2hAHlx8Bww8c130_provenance
{
dgn-np:NP255601.RAuU7VKYZpnuIEpagcKsw_NuLom4T6QXT2hAHlx8Bww8c130_assertion
dcterms:description
"[Some cases of mutations of FGFR1, and more rarely of its ligand FGF8, or of PROKR2 or its ligand PROK2 have been shown in women suffering from Kallmann syndrome or its hyposmic or normosmic variant.]. 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:20363464
;
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:NP255601.RAuU7VKYZpnuIEpagcKsw_NuLom4T6QXT2hAHlx8Bww8c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:23+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" .
}