@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP687654.RAumOoPjPTNKw0K8FY5g8gbFGWUOg5MyXiz1NGWnMLf4Q
> .
@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:NP687654.RAumOoPjPTNKw0K8FY5g8gbFGWUOg5MyXiz1NGWnMLf4Q130_head
{
this:
np:hasAssertion
dgn-np:NP687654.RAumOoPjPTNKw0K8FY5g8gbFGWUOg5MyXiz1NGWnMLf4Q130_assertion
;
np:hasProvenance
dgn-np:NP687654.RAumOoPjPTNKw0K8FY5g8gbFGWUOg5MyXiz1NGWnMLf4Q130_provenance
;
np:hasPublicationInfo
dgn-np:NP687654.RAumOoPjPTNKw0K8FY5g8gbFGWUOg5MyXiz1NGWnMLf4Q130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP687654.RAumOoPjPTNKw0K8FY5g8gbFGWUOg5MyXiz1NGWnMLf4Q130_assertion
a
np:Assertion
.
dgn-np:NP687654.RAumOoPjPTNKw0K8FY5g8gbFGWUOg5MyXiz1NGWnMLf4Q130_provenance
a
np:Provenance
.
dgn-np:NP687654.RAumOoPjPTNKw0K8FY5g8gbFGWUOg5MyXiz1NGWnMLf4Q130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP687654.RAumOoPjPTNKw0K8FY5g8gbFGWUOg5MyXiz1NGWnMLf4Q130_assertion
{
miriam-gene:55143
a
ncit:C16612
.
lld:C0000768
a
ncit:C7057
.
dgn-gda:DGNe1d056c89bf29eb03c625728f3467d3c
sio:SIO_000628
miriam-gene:55143
,
lld:C0000768
;
a
sio:SIO_001121
.
}
dgn-np:NP687654.RAumOoPjPTNKw0K8FY5g8gbFGWUOg5MyXiz1NGWnMLf4Q130_provenance
{
dgn-np:NP687654.RAumOoPjPTNKw0K8FY5g8gbFGWUOg5MyXiz1NGWnMLf4Q130_assertion
dcterms:description
"[Branchio-oto-renal (BOR) and branchio-oto (BO) syndromes are autosomal dominant hereditary disorders characterized by the presence of hearing loss and branchial fistulae and cysts, with (BOR syndrome) or without (BO syndrome) renal malformations of varying degrees of severity.]. 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:18763178
;
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:NP687654.RAumOoPjPTNKw0K8FY5g8gbFGWUOg5MyXiz1NGWnMLf4Q130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:58+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" .
}