@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP215239.RA_oFC6gQzo9TiPzcF2_N9hpqSTsgOyCHFSoB9JaZjh-4
> .
@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:NP215239.RA_oFC6gQzo9TiPzcF2_N9hpqSTsgOyCHFSoB9JaZjh-4130_head
{
this:
np:hasAssertion
dgn-np:NP215239.RA_oFC6gQzo9TiPzcF2_N9hpqSTsgOyCHFSoB9JaZjh-4130_assertion
;
np:hasProvenance
dgn-np:NP215239.RA_oFC6gQzo9TiPzcF2_N9hpqSTsgOyCHFSoB9JaZjh-4130_provenance
;
np:hasPublicationInfo
dgn-np:NP215239.RA_oFC6gQzo9TiPzcF2_N9hpqSTsgOyCHFSoB9JaZjh-4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP215239.RA_oFC6gQzo9TiPzcF2_N9hpqSTsgOyCHFSoB9JaZjh-4130_assertion
a
np:Assertion
.
dgn-np:NP215239.RA_oFC6gQzo9TiPzcF2_N9hpqSTsgOyCHFSoB9JaZjh-4130_provenance
a
np:Provenance
.
dgn-np:NP215239.RA_oFC6gQzo9TiPzcF2_N9hpqSTsgOyCHFSoB9JaZjh-4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP215239.RA_oFC6gQzo9TiPzcF2_N9hpqSTsgOyCHFSoB9JaZjh-4130_assertion
{
miriam-gene:1277
a
ncit:C16612
.
lld:C0029434
a
ncit:C7057
.
dgn-gda:DGN3b437716abde97a9dcaf14b45f476141
sio:SIO_000628
miriam-gene:1277
,
lld:C0029434
;
a
sio:SIO_001121
.
}
dgn-np:NP215239.RA_oFC6gQzo9TiPzcF2_N9hpqSTsgOyCHFSoB9JaZjh-4130_provenance
{
dgn-np:NP215239.RA_oFC6gQzo9TiPzcF2_N9hpqSTsgOyCHFSoB9JaZjh-4130_assertion
dcterms:description
"[Some cases of clinical otosclerosis may be related to mutations within the COL1A1 gene that are similar to those found in mild forms of osteogenesis imperfecta and result in null expression of the mutant allele.]. 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:9752968
;
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:NP215239.RA_oFC6gQzo9TiPzcF2_N9hpqSTsgOyCHFSoB9JaZjh-4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:59+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" .
}