@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP657882.RAkVhyEy-szstPlcv7qo7Cux4DZEVPallvNp8R55Un4Vg
> .
@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:NP657882.RAkVhyEy-szstPlcv7qo7Cux4DZEVPallvNp8R55Un4Vg130_head
{
this:
np:hasAssertion
dgn-np:NP657882.RAkVhyEy-szstPlcv7qo7Cux4DZEVPallvNp8R55Un4Vg130_assertion
;
np:hasProvenance
dgn-np:NP657882.RAkVhyEy-szstPlcv7qo7Cux4DZEVPallvNp8R55Un4Vg130_provenance
;
np:hasPublicationInfo
dgn-np:NP657882.RAkVhyEy-szstPlcv7qo7Cux4DZEVPallvNp8R55Un4Vg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP657882.RAkVhyEy-szstPlcv7qo7Cux4DZEVPallvNp8R55Un4Vg130_assertion
a
np:Assertion
.
dgn-np:NP657882.RAkVhyEy-szstPlcv7qo7Cux4DZEVPallvNp8R55Un4Vg130_provenance
a
np:Provenance
.
dgn-np:NP657882.RAkVhyEy-szstPlcv7qo7Cux4DZEVPallvNp8R55Un4Vg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP657882.RAkVhyEy-szstPlcv7qo7Cux4DZEVPallvNp8R55Un4Vg130_assertion
{
miriam-gene:4488
a
ncit:C16612
.
lld:C1868598
a
ncit:C7057
.
dgn-gda:DGN5dd1678e635eb50032fb75020fb2e167
sio:SIO_000628
miriam-gene:4488
,
lld:C1868598
;
a
sio:SIO_001121
.
}
dgn-np:NP657882.RAkVhyEy-szstPlcv7qo7Cux4DZEVPallvNp8R55Un4Vg130_provenance
{
dgn-np:NP657882.RAkVhyEy-szstPlcv7qo7Cux4DZEVPallvNp8R55Un4Vg130_assertion
dcterms:description
"[This implies that Boston type craniosynostosis and FPP are allelic variants of the same gene, with FPP caused by loss of MSX2 function and craniosynostosis Boston type due to gain of MSX2 function.]. 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:10767351
;
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:NP657882.RAkVhyEy-szstPlcv7qo7Cux4DZEVPallvNp8R55Un4Vg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:36+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" .
}