@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP822147.RA7DESPwRGcvfWSBSflpKm-uVoxkspjgsv2l6DmdCNdbg
> .
@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:NP822147.RA7DESPwRGcvfWSBSflpKm-uVoxkspjgsv2l6DmdCNdbg130_head
{
this:
np:hasAssertion
dgn-np:NP822147.RA7DESPwRGcvfWSBSflpKm-uVoxkspjgsv2l6DmdCNdbg130_assertion
;
np:hasProvenance
dgn-np:NP822147.RA7DESPwRGcvfWSBSflpKm-uVoxkspjgsv2l6DmdCNdbg130_provenance
;
np:hasPublicationInfo
dgn-np:NP822147.RA7DESPwRGcvfWSBSflpKm-uVoxkspjgsv2l6DmdCNdbg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP822147.RA7DESPwRGcvfWSBSflpKm-uVoxkspjgsv2l6DmdCNdbg130_assertion
a
np:Assertion
.
dgn-np:NP822147.RA7DESPwRGcvfWSBSflpKm-uVoxkspjgsv2l6DmdCNdbg130_provenance
a
np:Provenance
.
dgn-np:NP822147.RA7DESPwRGcvfWSBSflpKm-uVoxkspjgsv2l6DmdCNdbg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP822147.RA7DESPwRGcvfWSBSflpKm-uVoxkspjgsv2l6DmdCNdbg130_assertion
{
miriam-gene:657
a
ncit:C16612
.
lld:C0266617
a
ncit:C7057
.
dgn-gda:DGN5a4aa4dda60190b18fc279dd3ab9cec7
sio:SIO_000628
miriam-gene:657
,
lld:C0266617
;
a
sio:SIO_001121
.
}
dgn-np:NP822147.RA7DESPwRGcvfWSBSflpKm-uVoxkspjgsv2l6DmdCNdbg130_provenance
{
dgn-np:NP822147.RA7DESPwRGcvfWSBSflpKm-uVoxkspjgsv2l6DmdCNdbg130_assertion
dcterms:description
"[Bone morphogenetic protein (BMP) receptor type 1A (BMPR1A) mutations are associated with facial dysmorphism, which is one of the main clinical signs in both juvenile polyposis and chromosome 10q23 deletion syndromes.]. 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:22773757
;
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:NP822147.RA7DESPwRGcvfWSBSflpKm-uVoxkspjgsv2l6DmdCNdbg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:23+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" .
}