@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1255672.RARWIzTPvx4Ra_JNheHPIgvp0rodTn99LQd1MqZjwrE1Q
> .
@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:NP1255672.RARWIzTPvx4Ra_JNheHPIgvp0rodTn99LQd1MqZjwrE1Q130_head
{
this:
np:hasAssertion
dgn-np:NP1255672.RARWIzTPvx4Ra_JNheHPIgvp0rodTn99LQd1MqZjwrE1Q130_assertion
;
np:hasProvenance
dgn-np:NP1255672.RARWIzTPvx4Ra_JNheHPIgvp0rodTn99LQd1MqZjwrE1Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP1255672.RARWIzTPvx4Ra_JNheHPIgvp0rodTn99LQd1MqZjwrE1Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1255672.RARWIzTPvx4Ra_JNheHPIgvp0rodTn99LQd1MqZjwrE1Q130_assertion
a
np:Assertion
.
dgn-np:NP1255672.RARWIzTPvx4Ra_JNheHPIgvp0rodTn99LQd1MqZjwrE1Q130_provenance
a
np:Provenance
.
dgn-np:NP1255672.RARWIzTPvx4Ra_JNheHPIgvp0rodTn99LQd1MqZjwrE1Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1255672.RARWIzTPvx4Ra_JNheHPIgvp0rodTn99LQd1MqZjwrE1Q130_assertion
{
miriam-gene:7020
a
ncit:C16612
.
lld:C0376524
a
ncit:C7057
.
dgn-gda:DGN28b77f96722f1c6283e0fb1c9e318410
sio:SIO_000628
miriam-gene:7020
,
lld:C0376524
;
a
sio:SIO_001121
.
}
dgn-np:NP1255672.RARWIzTPvx4Ra_JNheHPIgvp0rodTn99LQd1MqZjwrE1Q130_provenance
{
dgn-np:NP1255672.RARWIzTPvx4Ra_JNheHPIgvp0rodTn99LQd1MqZjwrE1Q130_assertion
dcterms:description
"[Branchio-oculo-facial syndrome (BOFS, OMIM# 113620) is a rare autosomal dominant disorder characterised by branchial cleft sinus defects, ocular anomalies and facial dysmorphisms, including lip or palate cleft or pseudocleft, and is associated with mutations in the TFAP2A 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:25590586
;
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:NP1255672.RARWIzTPvx4Ra_JNheHPIgvp0rodTn99LQd1MqZjwrE1Q130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:15+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" .
}