@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP766393.RA45k7kqt-PCU-yIyvHIU2i8XyWzTdo9wED4TLlOFom7Q
> .
@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:NP766393.RA45k7kqt-PCU-yIyvHIU2i8XyWzTdo9wED4TLlOFom7Q130_head
{
this:
np:hasAssertion
dgn-np:NP766393.RA45k7kqt-PCU-yIyvHIU2i8XyWzTdo9wED4TLlOFom7Q130_assertion
;
np:hasProvenance
dgn-np:NP766393.RA45k7kqt-PCU-yIyvHIU2i8XyWzTdo9wED4TLlOFom7Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP766393.RA45k7kqt-PCU-yIyvHIU2i8XyWzTdo9wED4TLlOFom7Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP766393.RA45k7kqt-PCU-yIyvHIU2i8XyWzTdo9wED4TLlOFom7Q130_assertion
a
np:Assertion
.
dgn-np:NP766393.RA45k7kqt-PCU-yIyvHIU2i8XyWzTdo9wED4TLlOFom7Q130_provenance
a
np:Provenance
.
dgn-np:NP766393.RA45k7kqt-PCU-yIyvHIU2i8XyWzTdo9wED4TLlOFom7Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP766393.RA45k7kqt-PCU-yIyvHIU2i8XyWzTdo9wED4TLlOFom7Q130_assertion
{
miriam-gene:7021
a
ncit:C16612
.
lld:C1868570
a
ncit:C7057
.
dgn-gda:DGNc6277c4c0f3c90748fc57a99c1576922
sio:SIO_000628
miriam-gene:7021
,
lld:C1868570
;
a
sio:SIO_001121
.
}
dgn-np:NP766393.RA45k7kqt-PCU-yIyvHIU2i8XyWzTdo9wED4TLlOFom7Q130_provenance
{
dgn-np:NP766393.RA45k7kqt-PCU-yIyvHIU2i8XyWzTdo9wED4TLlOFom7Q130_assertion
dcterms:description
"[Recent analyses of autosomal dominant Char syndrome, which includes, with variable penetrance, patent ductus arteriosus as well as craniofacial and hand malformations, have shown that the syndrome is caused by mutations in the TFAP2B transcription factor 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:11376442
;
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:NP766393.RA45k7kqt-PCU-yIyvHIU2i8XyWzTdo9wED4TLlOFom7Q130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:44+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" .
}