@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP388354.RAFr6JrAeJrCfaFxuoAABZjSwCpeJ9CJw74RTSKqgnVGk
> .
@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:NP388354.RAFr6JrAeJrCfaFxuoAABZjSwCpeJ9CJw74RTSKqgnVGk130_head
{
this:
np:hasAssertion
dgn-np:NP388354.RAFr6JrAeJrCfaFxuoAABZjSwCpeJ9CJw74RTSKqgnVGk130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP388354.RAFr6JrAeJrCfaFxuoAABZjSwCpeJ9CJw74RTSKqgnVGk130_publicationInfo
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a
np:Nanopublication
.
dgn-np:NP388354.RAFr6JrAeJrCfaFxuoAABZjSwCpeJ9CJw74RTSKqgnVGk130_assertion
a
np:Assertion
.
dgn-np:NP388354.RAFr6JrAeJrCfaFxuoAABZjSwCpeJ9CJw74RTSKqgnVGk130_provenance
a
np:Provenance
.
dgn-np:NP388354.RAFr6JrAeJrCfaFxuoAABZjSwCpeJ9CJw74RTSKqgnVGk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP388354.RAFr6JrAeJrCfaFxuoAABZjSwCpeJ9CJw74RTSKqgnVGk130_assertion
{
miriam-gene:2132
a
ncit:C16612
.
lld:C0008626
a
ncit:C7057
.
dgn-gda:DGN6da89106a3ecc73b3b6d8679c837f505
sio:SIO_000628
miriam-gene:2132
,
lld:C0008626
;
a
sio:SIO_001121
.
}
dgn-np:NP388354.RAFr6JrAeJrCfaFxuoAABZjSwCpeJ9CJw74RTSKqgnVGk130_provenance
{
dgn-np:NP388354.RAFr6JrAeJrCfaFxuoAABZjSwCpeJ9CJw74RTSKqgnVGk130_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:NP388354.RAFr6JrAeJrCfaFxuoAABZjSwCpeJ9CJw74RTSKqgnVGk130_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
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;
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
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dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}