@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP820480.RADAYE7QsUIUhbn7sEaL1BZOMbvjIz8bf8Tp7rZ1BxCZw
> .
@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:NP820480.RADAYE7QsUIUhbn7sEaL1BZOMbvjIz8bf8Tp7rZ1BxCZw130_head
{
this:
np:hasAssertion
dgn-np:NP820480.RADAYE7QsUIUhbn7sEaL1BZOMbvjIz8bf8Tp7rZ1BxCZw130_assertion
;
np:hasProvenance
dgn-np:NP820480.RADAYE7QsUIUhbn7sEaL1BZOMbvjIz8bf8Tp7rZ1BxCZw130_provenance
;
np:hasPublicationInfo
dgn-np:NP820480.RADAYE7QsUIUhbn7sEaL1BZOMbvjIz8bf8Tp7rZ1BxCZw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP820480.RADAYE7QsUIUhbn7sEaL1BZOMbvjIz8bf8Tp7rZ1BxCZw130_assertion
a
np:Assertion
.
dgn-np:NP820480.RADAYE7QsUIUhbn7sEaL1BZOMbvjIz8bf8Tp7rZ1BxCZw130_provenance
a
np:Provenance
.
dgn-np:NP820480.RADAYE7QsUIUhbn7sEaL1BZOMbvjIz8bf8Tp7rZ1BxCZw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP820480.RADAYE7QsUIUhbn7sEaL1BZOMbvjIz8bf8Tp7rZ1BxCZw130_assertion
{
miriam-gene:1028
a
ncit:C16612
.
lld:C0265294
a
ncit:C7057
.
dgn-gda:DGN26d11054bee6d23629b31237fa54e5a1
sio:SIO_000628
miriam-gene:1028
,
lld:C0265294
;
a
sio:SIO_001121
.
}
dgn-np:NP820480.RADAYE7QsUIUhbn7sEaL1BZOMbvjIz8bf8Tp7rZ1BxCZw130_provenance
{
dgn-np:NP820480.RADAYE7QsUIUhbn7sEaL1BZOMbvjIz8bf8Tp7rZ1BxCZw130_assertion
dcterms:description
"[Interestingly, a recent study discovered that loss of function or gain of function of CDKN1C also causes clinically opposite disorders, BWS and IMAGe (intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies) syndrome, respectively.]. 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:23719190
;
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:NP820480.RADAYE7QsUIUhbn7sEaL1BZOMbvjIz8bf8Tp7rZ1BxCZw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:22+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" .
}