@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1253982.RADhwfSlPkZ908Et3M_ItEAvqstkZTYnNQ4Mk3EAKNV3s
> .
@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:NP1253982.RADhwfSlPkZ908Et3M_ItEAvqstkZTYnNQ4Mk3EAKNV3s130_head
{
this:
np:hasAssertion
dgn-np:NP1253982.RADhwfSlPkZ908Et3M_ItEAvqstkZTYnNQ4Mk3EAKNV3s130_assertion
;
np:hasProvenance
dgn-np:NP1253982.RADhwfSlPkZ908Et3M_ItEAvqstkZTYnNQ4Mk3EAKNV3s130_provenance
;
np:hasPublicationInfo
dgn-np:NP1253982.RADhwfSlPkZ908Et3M_ItEAvqstkZTYnNQ4Mk3EAKNV3s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1253982.RADhwfSlPkZ908Et3M_ItEAvqstkZTYnNQ4Mk3EAKNV3s130_assertion
a
np:Assertion
.
dgn-np:NP1253982.RADhwfSlPkZ908Et3M_ItEAvqstkZTYnNQ4Mk3EAKNV3s130_provenance
a
np:Provenance
.
dgn-np:NP1253982.RADhwfSlPkZ908Et3M_ItEAvqstkZTYnNQ4Mk3EAKNV3s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1253982.RADhwfSlPkZ908Et3M_ItEAvqstkZTYnNQ4Mk3EAKNV3s130_assertion
{
miriam-gene:4313
a
ncit:C16612
.
lld:C0037268
a
ncit:C7057
.
dgn-gda:DGN0f9308698076f625ebb56b55c19515c2
sio:SIO_000628
miriam-gene:4313
,
lld:C0037268
;
a
sio:SIO_001121
.
}
dgn-np:NP1253982.RADhwfSlPkZ908Et3M_ItEAvqstkZTYnNQ4Mk3EAKNV3s130_provenance
{
dgn-np:NP1253982.RADhwfSlPkZ908Et3M_ItEAvqstkZTYnNQ4Mk3EAKNV3s130_assertion
dcterms:description
"[Furthermore, the loss of MMP2 activity suggests that fibrotic skin abnormalities in GAPO syndrome are, in part, the consequence of pathophysiological mechanisms underlying syndromes (NAO, Torg and Winchester) with multicentric skin nodulosis and osteolysis caused by homozygous loss-of-function mutations in MMP2.]. 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:25572963
;
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:NP1253982.RADhwfSlPkZ908Et3M_ItEAvqstkZTYnNQ4Mk3EAKNV3s130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:14+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" .
}