@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP436974.RAZe0efHrZf5uw5l8qcL5U0bmEebATCQlMKDYgWHXSbYg
> .
@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:NP436974.RAZe0efHrZf5uw5l8qcL5U0bmEebATCQlMKDYgWHXSbYg130_head
{
this:
np:hasAssertion
dgn-np:NP436974.RAZe0efHrZf5uw5l8qcL5U0bmEebATCQlMKDYgWHXSbYg130_assertion
;
np:hasProvenance
dgn-np:NP436974.RAZe0efHrZf5uw5l8qcL5U0bmEebATCQlMKDYgWHXSbYg130_provenance
;
np:hasPublicationInfo
dgn-np:NP436974.RAZe0efHrZf5uw5l8qcL5U0bmEebATCQlMKDYgWHXSbYg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP436974.RAZe0efHrZf5uw5l8qcL5U0bmEebATCQlMKDYgWHXSbYg130_assertion
a
np:Assertion
.
dgn-np:NP436974.RAZe0efHrZf5uw5l8qcL5U0bmEebATCQlMKDYgWHXSbYg130_provenance
a
np:Provenance
.
dgn-np:NP436974.RAZe0efHrZf5uw5l8qcL5U0bmEebATCQlMKDYgWHXSbYg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP436974.RAZe0efHrZf5uw5l8qcL5U0bmEebATCQlMKDYgWHXSbYg130_assertion
{
miriam-gene:1311
a
ncit:C16612
.
lld:C0013336
a
ncit:C7057
.
dgn-gda:DGN2cf16db818127cf35df1490be6479655
sio:SIO_000628
miriam-gene:1311
,
lld:C0013336
;
a
sio:SIO_001121
.
}
dgn-np:NP436974.RAZe0efHrZf5uw5l8qcL5U0bmEebATCQlMKDYgWHXSbYg130_provenance
{
dgn-np:NP436974.RAZe0efHrZf5uw5l8qcL5U0bmEebATCQlMKDYgWHXSbYg130_assertion
dcterms:description
"[Pseudoachondroplasia (PSACH) is associated with mutations in the cartilage oligomeric matrix protein (COMP) gene and the clinical characteristics include short stature, deformities of the extremities involving the epiphyses and metaphyses, early onset arthritis, and ligament laxity.]. 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:15552564
;
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:NP436974.RAZe0efHrZf5uw5l8qcL5U0bmEebATCQlMKDYgWHXSbYg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:18+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" .
}