@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP221189.RApQvfBmqf-1et5Dj1EfsG5tQKRw6FAAuTossjHgdhJNM
> .
@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:NP221189.RApQvfBmqf-1et5Dj1EfsG5tQKRw6FAAuTossjHgdhJNM130_head
{
this:
np:hasAssertion
dgn-np:NP221189.RApQvfBmqf-1et5Dj1EfsG5tQKRw6FAAuTossjHgdhJNM130_assertion
;
np:hasProvenance
dgn-np:NP221189.RApQvfBmqf-1et5Dj1EfsG5tQKRw6FAAuTossjHgdhJNM130_provenance
;
np:hasPublicationInfo
dgn-np:NP221189.RApQvfBmqf-1et5Dj1EfsG5tQKRw6FAAuTossjHgdhJNM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP221189.RApQvfBmqf-1et5Dj1EfsG5tQKRw6FAAuTossjHgdhJNM130_assertion
a
np:Assertion
.
dgn-np:NP221189.RApQvfBmqf-1et5Dj1EfsG5tQKRw6FAAuTossjHgdhJNM130_provenance
a
np:Provenance
.
dgn-np:NP221189.RApQvfBmqf-1et5Dj1EfsG5tQKRw6FAAuTossjHgdhJNM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP221189.RApQvfBmqf-1et5Dj1EfsG5tQKRw6FAAuTossjHgdhJNM130_assertion
{
miriam-gene:2688
a
ncit:C16612
.
lld:C0878787
a
ncit:C7057
.
dgn-gda:DGNbafd5f68cb6929f06ebc58055ae3e53d
sio:SIO_000628
miriam-gene:2688
,
lld:C0878787
;
a
sio:SIO_001121
.
}
dgn-np:NP221189.RApQvfBmqf-1et5Dj1EfsG5tQKRw6FAAuTossjHgdhJNM130_provenance
{
dgn-np:NP221189.RApQvfBmqf-1et5Dj1EfsG5tQKRw6FAAuTossjHgdhJNM130_assertion
dcterms:description
"[Whereas mutations in the GH-1 and GHRHR genes account for the majority of mutations detectable in patients with Isolated Growth Hormone Deficiency (IGHD) resulting in postnatal growth failure, the overall detection of genetic defects in these patients remains low with app.]. 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:22423511
;
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:NP221189.RApQvfBmqf-1et5Dj1EfsG5tQKRw6FAAuTossjHgdhJNM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:02+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" .
}