@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM
> .
@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:NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_head
{
this:
np:hasAssertion
dgn-np:NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_assertion
;
np:hasProvenance
dgn-np:NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_provenance
;
np:hasPublicationInfo
dgn-np:NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_assertion
a
np:Assertion
.
dgn-np:NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_provenance
a
np:Provenance
.
dgn-np:NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_assertion
{
miriam-gene:5125
a
ncit:C16612
.
lld:C0300948
a
ncit:C7057
.
dgn-gda:DGN111c3292ffca67fe02a9dae442de34d9
sio:SIO_000628
miriam-gene:5125
,
lld:C0300948
;
a
sio:SIO_001121
.
}
dgn-np:NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_provenance
{
dgn-np:NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_assertion
dcterms:description
"[We identified nonsynonymous mutations in PCSK5 in patients with VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, limb malformation OMIM 192350) and caudal regression syndrome, the phenotypic features of which resemble the mouse mutation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:18519639
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP25530.RA97l_1QgG3fM8roU_b5jfenKq6RQ_mURfblaXO6uE6xM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:10+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" .
}