@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP46643.RAhvS4PudWOOV6xdixDxLSGlaS9x_XoFLlahXbebryzPE
> .
@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 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:NP46643.RAhvS4PudWOOV6xdixDxLSGlaS9x_XoFLlahXbebryzPE130_head
{
this:
np:hasAssertion
dgn-np:NP46643.RAhvS4PudWOOV6xdixDxLSGlaS9x_XoFLlahXbebryzPE130_assertion
;
np:hasProvenance
dgn-np:NP46643.RAhvS4PudWOOV6xdixDxLSGlaS9x_XoFLlahXbebryzPE130_provenance
;
np:hasPublicationInfo
dgn-np:NP46643.RAhvS4PudWOOV6xdixDxLSGlaS9x_XoFLlahXbebryzPE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP46643.RAhvS4PudWOOV6xdixDxLSGlaS9x_XoFLlahXbebryzPE130_assertion
a
np:Assertion
.
dgn-np:NP46643.RAhvS4PudWOOV6xdixDxLSGlaS9x_XoFLlahXbebryzPE130_provenance
a
np:Provenance
.
dgn-np:NP46643.RAhvS4PudWOOV6xdixDxLSGlaS9x_XoFLlahXbebryzPE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP46643.RAhvS4PudWOOV6xdixDxLSGlaS9x_XoFLlahXbebryzPE130_assertion
{
miriam-gene:1298
a
ncit:C16612
.
lld:C0029408
a
ncit:C7057
.
dgn-gda:DGN13536a10a1569fa99d04ebf5f5d29694
sio:SIO_000628
miriam-gene:1298
,
lld:C0029408
;
a
sio:SIO_001122
.
}
dgn-np:NP46643.RAhvS4PudWOOV6xdixDxLSGlaS9x_XoFLlahXbebryzPE130_provenance
{
dgn-np:NP46643.RAhvS4PudWOOV6xdixDxLSGlaS9x_XoFLlahXbebryzPE130_assertion
dct:description
"[ Early-onset OA demonstrates locus and allelic heterogeneity since the identified variations were in three different collagen genes and each of the six probands had a different mutation. It is also possible that some OA cases represent the mild end of the chondrodysplasia phenotypic spectrum. The major susceptibility alleles in this form of OA, however, remain to be identified.]. 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:15922184
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP46643.RAhvS4PudWOOV6xdixDxLSGlaS9x_XoFLlahXbebryzPE130_publicationInfo
{
this:
dct:created
"2014-10-02T12:32:21+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}