@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP283765.RAn9pZrj25dWCZNh5X3seh9d_zKUwNeJom0wvOrDDPcto
> .
@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:NP283765.RAn9pZrj25dWCZNh5X3seh9d_zKUwNeJom0wvOrDDPcto130_head
{
this:
np:hasAssertion
dgn-np:NP283765.RAn9pZrj25dWCZNh5X3seh9d_zKUwNeJom0wvOrDDPcto130_assertion
;
np:hasProvenance
dgn-np:NP283765.RAn9pZrj25dWCZNh5X3seh9d_zKUwNeJom0wvOrDDPcto130_provenance
;
np:hasPublicationInfo
dgn-np:NP283765.RAn9pZrj25dWCZNh5X3seh9d_zKUwNeJom0wvOrDDPcto130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP283765.RAn9pZrj25dWCZNh5X3seh9d_zKUwNeJom0wvOrDDPcto130_assertion
a
np:Assertion
.
dgn-np:NP283765.RAn9pZrj25dWCZNh5X3seh9d_zKUwNeJom0wvOrDDPcto130_provenance
a
np:Provenance
.
dgn-np:NP283765.RAn9pZrj25dWCZNh5X3seh9d_zKUwNeJom0wvOrDDPcto130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP283765.RAn9pZrj25dWCZNh5X3seh9d_zKUwNeJom0wvOrDDPcto130_assertion
{
miriam-gene:128674
a
ncit:C16612
.
lld:C0162809
a
ncit:C7057
.
dgn-gda:DGNec5e4c6fcab383630448caf8bf243edd
sio:SIO_000628
miriam-gene:128674
,
lld:C0162809
;
a
sio:SIO_001121
.
}
dgn-np:NP283765.RAn9pZrj25dWCZNh5X3seh9d_zKUwNeJom0wvOrDDPcto130_provenance
{
dgn-np:NP283765.RAn9pZrj25dWCZNh5X3seh9d_zKUwNeJom0wvOrDDPcto130_assertion
dcterms:description
"[Several themes have emerged as the genetic basis of HH has gradually been uncovered, including the association of some genes such as FGFR1, FGF8, PROK2 and PROKR2, both with HH in association with hyposmia/anosmia (Kallmann syndrome) and with normosmic HH, thus blurring the clinical distinction between ontogenic and purely functional defects in the axis.]. 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:19719764
;
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:NP283765.RAn9pZrj25dWCZNh5X3seh9d_zKUwNeJom0wvOrDDPcto130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:40+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" .
}