@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP619397.RA4HgrWDPhfN_Wt6x2JJ-mPV-2hWD2jcUnGPn6Scb43Xo
> .
@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:NP619397.RA4HgrWDPhfN_Wt6x2JJ-mPV-2hWD2jcUnGPn6Scb43Xo130_head
{
this:
np:hasAssertion
dgn-np:NP619397.RA4HgrWDPhfN_Wt6x2JJ-mPV-2hWD2jcUnGPn6Scb43Xo130_assertion
;
np:hasProvenance
dgn-np:NP619397.RA4HgrWDPhfN_Wt6x2JJ-mPV-2hWD2jcUnGPn6Scb43Xo130_provenance
;
np:hasPublicationInfo
dgn-np:NP619397.RA4HgrWDPhfN_Wt6x2JJ-mPV-2hWD2jcUnGPn6Scb43Xo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP619397.RA4HgrWDPhfN_Wt6x2JJ-mPV-2hWD2jcUnGPn6Scb43Xo130_assertion
a
np:Assertion
.
dgn-np:NP619397.RA4HgrWDPhfN_Wt6x2JJ-mPV-2hWD2jcUnGPn6Scb43Xo130_provenance
a
np:Provenance
.
dgn-np:NP619397.RA4HgrWDPhfN_Wt6x2JJ-mPV-2hWD2jcUnGPn6Scb43Xo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP619397.RA4HgrWDPhfN_Wt6x2JJ-mPV-2hWD2jcUnGPn6Scb43Xo130_assertion
{
miriam-gene:6899
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGN4157f66a0eecdd52bb0245a463c44771
sio:SIO_000628
miriam-gene:6899
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP619397.RA4HgrWDPhfN_Wt6x2JJ-mPV-2hWD2jcUnGPn6Scb43Xo130_provenance
{
dgn-np:NP619397.RA4HgrWDPhfN_Wt6x2JJ-mPV-2hWD2jcUnGPn6Scb43Xo130_assertion
dcterms:description
"[Haploinsufficiency of the TBX1 gene has been shown to be sufficient to cause the core physical malformations associated with 22q11DS in mice and humans and via abnormal brain development could contribute to 22q11DS-related and isolated psychiatric disease.]. 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:17622328
;
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:NP619397.RA4HgrWDPhfN_Wt6x2JJ-mPV-2hWD2jcUnGPn6Scb43Xo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:26+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" .
}