@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1129423.RAipMkEGsRS_IIcBJLrP7-EukFGGdhPdJMvYVtdWttgEU
> .
@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/v4.0.0/void/
> .
dgn-np:NP1129423.RAipMkEGsRS_IIcBJLrP7-EukFGGdhPdJMvYVtdWttgEU130_head
{
this:
np:hasAssertion
dgn-np:NP1129423.RAipMkEGsRS_IIcBJLrP7-EukFGGdhPdJMvYVtdWttgEU130_assertion
;
np:hasProvenance
dgn-np:NP1129423.RAipMkEGsRS_IIcBJLrP7-EukFGGdhPdJMvYVtdWttgEU130_provenance
;
np:hasPublicationInfo
dgn-np:NP1129423.RAipMkEGsRS_IIcBJLrP7-EukFGGdhPdJMvYVtdWttgEU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1129423.RAipMkEGsRS_IIcBJLrP7-EukFGGdhPdJMvYVtdWttgEU130_assertion
a
np:Assertion
.
dgn-np:NP1129423.RAipMkEGsRS_IIcBJLrP7-EukFGGdhPdJMvYVtdWttgEU130_provenance
a
np:Provenance
.
dgn-np:NP1129423.RAipMkEGsRS_IIcBJLrP7-EukFGGdhPdJMvYVtdWttgEU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1129423.RAipMkEGsRS_IIcBJLrP7-EukFGGdhPdJMvYVtdWttgEU130_assertion
{
miriam-gene:6473
a
ncit:C16612
.
lld:C0003090
a
ncit:C7057
.
dgn-gda:DGNee13dbd86f6bad4edac0bcfc745fbad0
sio:SIO_000628
miriam-gene:6473
,
lld:C0003090
;
a
sio:SIO_001121
.
}
dgn-np:NP1129423.RAipMkEGsRS_IIcBJLrP7-EukFGGdhPdJMvYVtdWttgEU130_provenance
{
dgn-np:NP1129423.RAipMkEGsRS_IIcBJLrP7-EukFGGdhPdJMvYVtdWttgEU130_assertion
dcterms:description
"[We have reported previously that cranial neural-crest-specific inactivation of the homeobox gene Shox2, which is expressed in the mesenchymal cells of the maxilla-mandibular junction and later in the progenitor cells and perichondrium of the developing chondyle, leads to dysplasia and ankylosis of the TMJ and that replacement of the mouse Shox2 with the human SHOX gene rescues the dysplastic and ankylosis phenotypes but results in a prematurely worn out articular disc.]. 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:24248941
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1129423.RAipMkEGsRS_IIcBJLrP7-EukFGGdhPdJMvYVtdWttgEU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:18+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: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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}