@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP371819.RAt5mnGx4Ak_WsvWpAmmcflxYawBMVbHzmIeAwT9XeRrE
> .
@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:NP371819.RAt5mnGx4Ak_WsvWpAmmcflxYawBMVbHzmIeAwT9XeRrE130_head
{
this:
np:hasAssertion
dgn-np:NP371819.RAt5mnGx4Ak_WsvWpAmmcflxYawBMVbHzmIeAwT9XeRrE130_assertion
;
np:hasProvenance
dgn-np:NP371819.RAt5mnGx4Ak_WsvWpAmmcflxYawBMVbHzmIeAwT9XeRrE130_provenance
;
np:hasPublicationInfo
dgn-np:NP371819.RAt5mnGx4Ak_WsvWpAmmcflxYawBMVbHzmIeAwT9XeRrE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP371819.RAt5mnGx4Ak_WsvWpAmmcflxYawBMVbHzmIeAwT9XeRrE130_assertion
a
np:Assertion
.
dgn-np:NP371819.RAt5mnGx4Ak_WsvWpAmmcflxYawBMVbHzmIeAwT9XeRrE130_provenance
a
np:Provenance
.
dgn-np:NP371819.RAt5mnGx4Ak_WsvWpAmmcflxYawBMVbHzmIeAwT9XeRrE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP371819.RAt5mnGx4Ak_WsvWpAmmcflxYawBMVbHzmIeAwT9XeRrE130_assertion
{
miriam-gene:2131
a
ncit:C16612
.
lld:C0029423
a
ncit:C7057
.
dgn-gda:DGN82008196816468adb9c6e862ac3f8bdc
sio:SIO_000628
miriam-gene:2131
,
lld:C0029423
;
a
sio:SIO_001121
.
}
dgn-np:NP371819.RAt5mnGx4Ak_WsvWpAmmcflxYawBMVbHzmIeAwT9XeRrE130_provenance
{
dgn-np:NP371819.RAt5mnGx4Ak_WsvWpAmmcflxYawBMVbHzmIeAwT9XeRrE130_assertion
dcterms:description
"[These findings indicate that a significant subset of osteochondromas harbor genetic aberrations at the EXT1 locus and suggest that loss or mutation of EXT1 plays an important role in the pathogenesis of sporadic as well as hereditary osteochondromas.]. 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:12393280
;
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:NP371819.RAt5mnGx4Ak_WsvWpAmmcflxYawBMVbHzmIeAwT9XeRrE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:34+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" .
}