@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP937894.RAGULlxHOiuy9wB2epXZTycSvdvu3Iz7Yl1-rg3BgU94k
> .
@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:NP937894.RAGULlxHOiuy9wB2epXZTycSvdvu3Iz7Yl1-rg3BgU94k130_head
{
this:
np:hasAssertion
dgn-np:NP937894.RAGULlxHOiuy9wB2epXZTycSvdvu3Iz7Yl1-rg3BgU94k130_assertion
;
np:hasProvenance
dgn-np:NP937894.RAGULlxHOiuy9wB2epXZTycSvdvu3Iz7Yl1-rg3BgU94k130_provenance
;
np:hasPublicationInfo
dgn-np:NP937894.RAGULlxHOiuy9wB2epXZTycSvdvu3Iz7Yl1-rg3BgU94k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP937894.RAGULlxHOiuy9wB2epXZTycSvdvu3Iz7Yl1-rg3BgU94k130_assertion
a
np:Assertion
.
dgn-np:NP937894.RAGULlxHOiuy9wB2epXZTycSvdvu3Iz7Yl1-rg3BgU94k130_provenance
a
np:Provenance
.
dgn-np:NP937894.RAGULlxHOiuy9wB2epXZTycSvdvu3Iz7Yl1-rg3BgU94k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP937894.RAGULlxHOiuy9wB2epXZTycSvdvu3Iz7Yl1-rg3BgU94k130_assertion
{
miriam-gene:19
a
ncit:C16612
.
lld:C1865343
a
ncit:C7057
.
dgn-gda:DGN0a14a8595dcd2d520f624a71f903b62a
sio:SIO_000628
miriam-gene:19
,
lld:C1865343
;
a
sio:SIO_001121
.
}
dgn-np:NP937894.RAGULlxHOiuy9wB2epXZTycSvdvu3Iz7Yl1-rg3BgU94k130_provenance
{
dgn-np:NP937894.RAGULlxHOiuy9wB2epXZTycSvdvu3Iz7Yl1-rg3BgU94k130_assertion
dcterms:description
"[To clarify the genetic factors that predispose to OPLL, we have studied ttw (tiptoe walking), a mouse model that presents ectopic ossification of the spinal ligaments similar to OPLL and have found that the ttw phenotype is caused by the nonsense mutation of the gene encoding nucleotide pyrophosphatase (NPPS), a membrane-bound glycoprotein thought to produce inorganic pyrophosphate, a major inhibitor of calcification and mineralization.]. 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:10453738
;
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:NP937894.RAGULlxHOiuy9wB2epXZTycSvdvu3Iz7Yl1-rg3BgU94k130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:34+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" .
}