@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP494726.RATGQIq1PxgD42c4V9q8fsdUrbLxu0eewjHVIKjIc1rxM
> .
@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:NP494726.RATGQIq1PxgD42c4V9q8fsdUrbLxu0eewjHVIKjIc1rxM130_head
{
this:
np:hasAssertion
dgn-np:NP494726.RATGQIq1PxgD42c4V9q8fsdUrbLxu0eewjHVIKjIc1rxM130_assertion
;
np:hasProvenance
dgn-np:NP494726.RATGQIq1PxgD42c4V9q8fsdUrbLxu0eewjHVIKjIc1rxM130_provenance
;
np:hasPublicationInfo
dgn-np:NP494726.RATGQIq1PxgD42c4V9q8fsdUrbLxu0eewjHVIKjIc1rxM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP494726.RATGQIq1PxgD42c4V9q8fsdUrbLxu0eewjHVIKjIc1rxM130_assertion
a
np:Assertion
.
dgn-np:NP494726.RATGQIq1PxgD42c4V9q8fsdUrbLxu0eewjHVIKjIc1rxM130_provenance
a
np:Provenance
.
dgn-np:NP494726.RATGQIq1PxgD42c4V9q8fsdUrbLxu0eewjHVIKjIc1rxM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP494726.RATGQIq1PxgD42c4V9q8fsdUrbLxu0eewjHVIKjIc1rxM130_assertion
{
miriam-gene:1836
a
ncit:C16612
.
lld:C0001079
a
ncit:C7057
.
dgn-gda:DGNac98d3acda57e8a0f6dfd01c86190b7b
sio:SIO_000628
miriam-gene:1836
,
lld:C0001079
;
a
sio:SIO_001121
.
}
dgn-np:NP494726.RATGQIq1PxgD42c4V9q8fsdUrbLxu0eewjHVIKjIc1rxM130_provenance
{
dgn-np:NP494726.RATGQIq1PxgD42c4V9q8fsdUrbLxu0eewjHVIKjIc1rxM130_assertion
dcterms:description
"[Molecular analysis in the presented case of achondrogenesis type IA did not reveal mutations in the COL2A1 and SLC26A2 genes, which are known to cause achondrogenesis types IB and type II.]. 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:17638425
;
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:NP494726.RATGQIq1PxgD42c4V9q8fsdUrbLxu0eewjHVIKjIc1rxM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:55+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" .
}