@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8
> .
@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/v4.0.0/void/
> .
dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_head
{
this:
np:hasAssertion
dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_assertion
;
np:hasProvenance
dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_provenance
;
np:hasPublicationInfo
dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_assertion
a
np:Assertion
.
dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_provenance
a
np:Provenance
.
dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_assertion
{
miriam-gene:4882
a
ncit:C16612
.
lld:C0149887
a
ncit:C7057
.
dgn-gda:DGN430b6af04342a52e5e967f6aaba7f295
sio:SIO_000628
miriam-gene:4882
,
lld:C0149887
;
a
sio:SIO_001121
.
}
dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_provenance
{
dgn-np:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_assertion
dcterms:description
"[We identified a four-generation family with an overgrowth syndrome characterized by tall stature, macrodactyly of the great toes, scoliosis, coxa valga and slipped capital femoral epiphysis, similar to those previously reported in association with CNP/NPR2 overactivity.]. 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:24259409
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1130073.RAmpP_S9mplOrjsL9vXABxR0lqx0IWgg2vZCR7cvCLzb8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:18+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}