@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP180731.RATUk7gTjr4NY2GiweXANh14j40qO00uUDQckJoV930lA
> .
@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:NP180731.RATUk7gTjr4NY2GiweXANh14j40qO00uUDQckJoV930lA130_head
{
this:
np:hasAssertion
dgn-np:NP180731.RATUk7gTjr4NY2GiweXANh14j40qO00uUDQckJoV930lA130_assertion
;
np:hasProvenance
dgn-np:NP180731.RATUk7gTjr4NY2GiweXANh14j40qO00uUDQckJoV930lA130_provenance
;
np:hasPublicationInfo
dgn-np:NP180731.RATUk7gTjr4NY2GiweXANh14j40qO00uUDQckJoV930lA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP180731.RATUk7gTjr4NY2GiweXANh14j40qO00uUDQckJoV930lA130_assertion
a
np:Assertion
.
dgn-np:NP180731.RATUk7gTjr4NY2GiweXANh14j40qO00uUDQckJoV930lA130_provenance
a
np:Provenance
.
dgn-np:NP180731.RATUk7gTjr4NY2GiweXANh14j40qO00uUDQckJoV930lA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP180731.RATUk7gTjr4NY2GiweXANh14j40qO00uUDQckJoV930lA130_assertion
{
miriam-gene:1300
a
ncit:C16612
.
lld:C0343284
a
ncit:C7057
.
dgn-gda:DGNcdb87bb9a352b4b71d18abcd15248881
sio:SIO_000628
miriam-gene:1300
,
lld:C0343284
;
a
sio:SIO_001121
.
}
dgn-np:NP180731.RATUk7gTjr4NY2GiweXANh14j40qO00uUDQckJoV930lA130_provenance
{
dgn-np:NP180731.RATUk7gTjr4NY2GiweXANh14j40qO00uUDQckJoV930lA130_assertion
dcterms:description
"[The precise function of type X collagen is not known, but its specific pattern of expression suggests that mutations within the encoding gene (COL10A1) that alter the structure or synthesis of the protein may cause heritable forms of chondrodysplasia.]. 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:8304336
;
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:NP180731.RATUk7gTjr4NY2GiweXANh14j40qO00uUDQckJoV930lA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:38+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" .
}