@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP881947.RAh1J9g7faY6XpXrW3HGAgfNfy6DlswtI_unLv9B8Ab2o
> .
@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:NP881947.RAh1J9g7faY6XpXrW3HGAgfNfy6DlswtI_unLv9B8Ab2o130_head
{
this:
np:hasAssertion
dgn-np:NP881947.RAh1J9g7faY6XpXrW3HGAgfNfy6DlswtI_unLv9B8Ab2o130_assertion
;
np:hasProvenance
dgn-np:NP881947.RAh1J9g7faY6XpXrW3HGAgfNfy6DlswtI_unLv9B8Ab2o130_provenance
;
np:hasPublicationInfo
dgn-np:NP881947.RAh1J9g7faY6XpXrW3HGAgfNfy6DlswtI_unLv9B8Ab2o130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP881947.RAh1J9g7faY6XpXrW3HGAgfNfy6DlswtI_unLv9B8Ab2o130_assertion
a
np:Assertion
.
dgn-np:NP881947.RAh1J9g7faY6XpXrW3HGAgfNfy6DlswtI_unLv9B8Ab2o130_provenance
a
np:Provenance
.
dgn-np:NP881947.RAh1J9g7faY6XpXrW3HGAgfNfy6DlswtI_unLv9B8Ab2o130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP881947.RAh1J9g7faY6XpXrW3HGAgfNfy6DlswtI_unLv9B8Ab2o130_assertion
{
miriam-gene:7405
a
ncit:C16612
.
lld:C0008925
a
ncit:C7057
.
dgn-gda:DGN147356534fac9001bb367537428aad2a
sio:SIO_000628
miriam-gene:7405
,
lld:C0008925
;
a
sio:SIO_001121
.
}
dgn-np:NP881947.RAh1J9g7faY6XpXrW3HGAgfNfy6DlswtI_unLv9B8Ab2o130_provenance
{
dgn-np:NP881947.RAh1J9g7faY6XpXrW3HGAgfNfy6DlswtI_unLv9B8Ab2o130_assertion
dcterms:description
"[The EEC syndrome, consisting of ectrodactyly (E), ectodermal dysplasia (E) and cleft lip (C) with or without cleft palate, is the prototype of these syndromes with the presence of heterozygote mutation in the p63 gene in most of the patients.]. 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:21434540
;
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:NP881947.RAh1J9g7faY6XpXrW3HGAgfNfy6DlswtI_unLv9B8Ab2o130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:24+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" .
}