@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP630383.RA8Eh3m1kM5u1swl7EpC6--I1a1QTQEUE-lKnq_Gcq4d4
> .
@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:NP630383.RA8Eh3m1kM5u1swl7EpC6--I1a1QTQEUE-lKnq_Gcq4d4130_head
{
this:
np:hasAssertion
dgn-np:NP630383.RA8Eh3m1kM5u1swl7EpC6--I1a1QTQEUE-lKnq_Gcq4d4130_assertion
;
np:hasProvenance
dgn-np:NP630383.RA8Eh3m1kM5u1swl7EpC6--I1a1QTQEUE-lKnq_Gcq4d4130_provenance
;
np:hasPublicationInfo
dgn-np:NP630383.RA8Eh3m1kM5u1swl7EpC6--I1a1QTQEUE-lKnq_Gcq4d4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP630383.RA8Eh3m1kM5u1swl7EpC6--I1a1QTQEUE-lKnq_Gcq4d4130_assertion
a
np:Assertion
.
dgn-np:NP630383.RA8Eh3m1kM5u1swl7EpC6--I1a1QTQEUE-lKnq_Gcq4d4130_provenance
a
np:Provenance
.
dgn-np:NP630383.RA8Eh3m1kM5u1swl7EpC6--I1a1QTQEUE-lKnq_Gcq4d4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP630383.RA8Eh3m1kM5u1swl7EpC6--I1a1QTQEUE-lKnq_Gcq4d4130_assertion
{
miriam-gene:4041
a
ncit:C16612
.
lld:C0019247
a
ncit:C7057
.
dgn-gda:DGNe2ad5486393fc1a86074882e565ba4c7
sio:SIO_000628
miriam-gene:4041
,
lld:C0019247
;
a
sio:SIO_001121
.
}
dgn-np:NP630383.RA8Eh3m1kM5u1swl7EpC6--I1a1QTQEUE-lKnq_Gcq4d4130_provenance
{
dgn-np:NP630383.RA8Eh3m1kM5u1swl7EpC6--I1a1QTQEUE-lKnq_Gcq4d4130_assertion
dcterms:description
"[Individuals with unexplained HBM have an excess of clinical characteristics associated with skeletal dysplasia and their relatives are commonly affected, suggesting many may harbour an underlying genetic disorder affecting bone mass.]. 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:21455762
;
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:NP630383.RA8Eh3m1kM5u1swl7EpC6--I1a1QTQEUE-lKnq_Gcq4d4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:20+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" .
}