@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg
> .
@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:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_head
{
this:
np:hasAssertion
dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_assertion
;
np:hasProvenance
dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_provenance
;
np:hasPublicationInfo
dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_assertion
a
np:Assertion
.
dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_provenance
a
np:Provenance
.
dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_assertion
{
miriam-gene:5159
a
ncit:C16612
.
lld:C0432284
a
ncit:C7057
.
dgn-gda:DGN9bb84d15c3fbc56d41482a4460a5f86f
sio:SIO_000628
miriam-gene:5159
,
lld:C0432284
;
a
sio:SIO_001121
.
}
dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_provenance
{
dgn-np:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_assertion
dcterms:description
"[Distinct mutations in PDGFRB have been shown to cause infantile myofibromatosis, idiopathic basal ganglia calcification, and an overgrowth disorder with dysmorphic facies and psychosis, none of which overlaps with the clinical findings in Penttinen syndrome.]. 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:26279204
;
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:NP1292619.RAu0TD0otXmkaa6nwvVSvQwylWt-tE6TWiSwuawT4SBmg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:32+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" .
}