@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP855948.RAUurUhBBZc-yJN-EO47NULsksbFz62eOOrn7F43jZMPI
> .
@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:NP855948.RAUurUhBBZc-yJN-EO47NULsksbFz62eOOrn7F43jZMPI130_head
{
this:
np:hasAssertion
dgn-np:NP855948.RAUurUhBBZc-yJN-EO47NULsksbFz62eOOrn7F43jZMPI130_assertion
;
np:hasProvenance
dgn-np:NP855948.RAUurUhBBZc-yJN-EO47NULsksbFz62eOOrn7F43jZMPI130_provenance
;
np:hasPublicationInfo
dgn-np:NP855948.RAUurUhBBZc-yJN-EO47NULsksbFz62eOOrn7F43jZMPI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP855948.RAUurUhBBZc-yJN-EO47NULsksbFz62eOOrn7F43jZMPI130_assertion
a
np:Assertion
.
dgn-np:NP855948.RAUurUhBBZc-yJN-EO47NULsksbFz62eOOrn7F43jZMPI130_provenance
a
np:Provenance
.
dgn-np:NP855948.RAUurUhBBZc-yJN-EO47NULsksbFz62eOOrn7F43jZMPI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP855948.RAUurUhBBZc-yJN-EO47NULsksbFz62eOOrn7F43jZMPI130_assertion
{
miriam-gene:64327
a
ncit:C16612
.
lld:C0241397
a
ncit:C7057
.
dgn-gda:DGN566424d4e99974c0ffe14d742a44e394
sio:SIO_000628
miriam-gene:64327
,
lld:C0241397
;
a
sio:SIO_001121
.
}
dgn-np:NP855948.RAUurUhBBZc-yJN-EO47NULsksbFz62eOOrn7F43jZMPI130_provenance
{
dgn-np:NP855948.RAUurUhBBZc-yJN-EO47NULsksbFz62eOOrn7F43jZMPI130_assertion
dcterms:description
"[Point mutations within this non-coding regulatory region designated ZRS lead to ectopic expression of Shh in the anterior margin of the limb bud, as shown in mice, and cause the human triphalangeal thumb and polysyndactyly (TPT-PS) phenotype.]. 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:18178630
;
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:NP855948.RAUurUhBBZc-yJN-EO47NULsksbFz62eOOrn7F43jZMPI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:43+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" .
}