@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP388427.RALiaPeEBguVW_Q6zT9atvwBi6ITMmpxvFjlt9aLn24CE
> .
@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/v3.0.0/void/
> .
dgn-np:NP388427.RALiaPeEBguVW_Q6zT9atvwBi6ITMmpxvFjlt9aLn24CE130_head
{
this:
np:hasAssertion
dgn-np:NP388427.RALiaPeEBguVW_Q6zT9atvwBi6ITMmpxvFjlt9aLn24CE130_assertion
;
np:hasProvenance
dgn-np:NP388427.RALiaPeEBguVW_Q6zT9atvwBi6ITMmpxvFjlt9aLn24CE130_provenance
;
np:hasPublicationInfo
dgn-np:NP388427.RALiaPeEBguVW_Q6zT9atvwBi6ITMmpxvFjlt9aLn24CE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP388427.RALiaPeEBguVW_Q6zT9atvwBi6ITMmpxvFjlt9aLn24CE130_assertion
a
np:Assertion
.
dgn-np:NP388427.RALiaPeEBguVW_Q6zT9atvwBi6ITMmpxvFjlt9aLn24CE130_provenance
a
np:Provenance
.
dgn-np:NP388427.RALiaPeEBguVW_Q6zT9atvwBi6ITMmpxvFjlt9aLn24CE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP388427.RALiaPeEBguVW_Q6zT9atvwBi6ITMmpxvFjlt9aLn24CE130_assertion
{
miriam-gene:2133
a
ncit:C16612
.
lld:C0008626
a
ncit:C7057
.
dgn-gda:DGN6e976226cb665644ca9009bda35e92c4
sio:SIO_000628
miriam-gene:2133
,
lld:C0008626
;
a
sio:SIO_001121
.
}
dgn-np:NP388427.RALiaPeEBguVW_Q6zT9atvwBi6ITMmpxvFjlt9aLn24CE130_provenance
{
dgn-np:NP388427.RALiaPeEBguVW_Q6zT9atvwBi6ITMmpxvFjlt9aLn24CE130_assertion
dcterms:description
"[These findings: 1) confirm previous observations of 8q24.1 karyotypic anomalies in sporadic osteochondroma, 2) reveal the presence of somatic chromosomal anomalies in hereditary osteochondromata, 3) suggest that similar to hereditary lesions, sporadic osteochondromas also are genetically heterogeneic (involvement of both 8q24.1 and 11p11-12), and 4) support the hypothesis that loss or mutation of EXT1 and EXT2, two putative tumor suppressor genes, may be important in the pathogenesis of sporadic as well as hereditary osteochondromata.]. 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:9576285
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP388427.RALiaPeEBguVW_Q6zT9atvwBi6ITMmpxvFjlt9aLn24CE130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:24+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}