@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP463410.RA1HsP3cx2WlOL55ZKNeuJEatRo9fKZwT86zQlCbuhVRE
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP463410.RA1HsP3cx2WlOL55ZKNeuJEatRo9fKZwT86zQlCbuhVRE130_head
{
this:
np:hasAssertion
dgn-np:NP463410.RA1HsP3cx2WlOL55ZKNeuJEatRo9fKZwT86zQlCbuhVRE130_assertion
;
np:hasProvenance
dgn-np:NP463410.RA1HsP3cx2WlOL55ZKNeuJEatRo9fKZwT86zQlCbuhVRE130_provenance
;
np:hasPublicationInfo
dgn-np:NP463410.RA1HsP3cx2WlOL55ZKNeuJEatRo9fKZwT86zQlCbuhVRE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP463410.RA1HsP3cx2WlOL55ZKNeuJEatRo9fKZwT86zQlCbuhVRE130_assertion
a
np:Assertion
.
dgn-np:NP463410.RA1HsP3cx2WlOL55ZKNeuJEatRo9fKZwT86zQlCbuhVRE130_provenance
a
np:Provenance
.
dgn-np:NP463410.RA1HsP3cx2WlOL55ZKNeuJEatRo9fKZwT86zQlCbuhVRE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP463410.RA1HsP3cx2WlOL55ZKNeuJEatRo9fKZwT86zQlCbuhVRE130_assertion
{
miriam-gene:3239
a
ncit:C16612
.
lld:C0740404
a
ncit:C7057
.
dgn-gda:DGN06e227228a5adca188b017864c7d17ba
sio:SIO_000628
miriam-gene:3239
,
lld:C0740404
;
a
sio:SIO_001121
.
}
dgn-np:NP463410.RA1HsP3cx2WlOL55ZKNeuJEatRo9fKZwT86zQlCbuhVRE130_provenance
{
dgn-np:NP463410.RA1HsP3cx2WlOL55ZKNeuJEatRo9fKZwT86zQlCbuhVRE130_assertion
dcterms:description
"[In a previous report, we described the clinical and radiographical features of three related subjects with the disease and suggest that due to the unusual combination of limb defects and to its phenotypic similarity with the limb malformative pattern induced by disrupting the Hoxd13 gene in mouse, the triphalangeal thumb-brachyectrodactyly syndrome might be caused by mutations in a HOX gene.]. 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:12382951
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP463410.RA1HsP3cx2WlOL55ZKNeuJEatRo9fKZwT86zQlCbuhVRE130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:42:12+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:disgenetv3.0rdf
;
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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}