@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP643720.RAZw1ihNJuQuA9M0Pwxc_nnEpU1Pu3J24Wha_nj9BizkQ
> .
@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:NP643720.RAZw1ihNJuQuA9M0Pwxc_nnEpU1Pu3J24Wha_nj9BizkQ130_head
{
this:
np:hasAssertion
dgn-np:NP643720.RAZw1ihNJuQuA9M0Pwxc_nnEpU1Pu3J24Wha_nj9BizkQ130_assertion
;
np:hasProvenance
dgn-np:NP643720.RAZw1ihNJuQuA9M0Pwxc_nnEpU1Pu3J24Wha_nj9BizkQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP643720.RAZw1ihNJuQuA9M0Pwxc_nnEpU1Pu3J24Wha_nj9BizkQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP643720.RAZw1ihNJuQuA9M0Pwxc_nnEpU1Pu3J24Wha_nj9BizkQ130_assertion
a
np:Assertion
.
dgn-np:NP643720.RAZw1ihNJuQuA9M0Pwxc_nnEpU1Pu3J24Wha_nj9BizkQ130_provenance
a
np:Provenance
.
dgn-np:NP643720.RAZw1ihNJuQuA9M0Pwxc_nnEpU1Pu3J24Wha_nj9BizkQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP643720.RAZw1ihNJuQuA9M0Pwxc_nnEpU1Pu3J24Wha_nj9BizkQ130_assertion
{
miriam-gene:1141
a
ncit:C16612
.
lld:C0014544
a
ncit:C7057
.
dgn-gda:DGN163105809cf33ea55287ea7b2b80e631
sio:SIO_000628
miriam-gene:1141
,
lld:C0014544
;
a
sio:SIO_001121
.
}
dgn-np:NP643720.RAZw1ihNJuQuA9M0Pwxc_nnEpU1Pu3J24Wha_nj9BizkQ130_provenance
{
dgn-np:NP643720.RAZw1ihNJuQuA9M0Pwxc_nnEpU1Pu3J24Wha_nj9BizkQ130_assertion
dcterms:description
"[We speculate that the gene dosage increase of CHRNB2, ADAR and KCNJ10 is most likely responsible for epilepsy, and the breakpoint at 1p13.2 in the supernumerary r(1) is most likely responsible for the development of multiple exostoses and osteochondroma in this patient.]. 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:22029168
;
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:NP643720.RAZw1ihNJuQuA9M0Pwxc_nnEpU1Pu3J24Wha_nj9BizkQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:28+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" .
}