@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk
> .
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http://www.w3.org/2000/01/rdf-schema#
> .
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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#
> .
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{
this:
np:hasAssertion
dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_assertion
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np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_publicationInfo
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a
np:Nanopublication
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dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_assertion
a
np:Assertion
.
dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_provenance
a
np:Provenance
.
dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_publicationInfo
a
np:PublicationInfo
.
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dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_assertion
{
miriam-gene:2138
a
ncit:C16612
.
lld:C0546969
a
ncit:C7057
.
dgn-gda:DGNb927c158c92b0144952861b99f84373c
sio:SIO_000628
miriam-gene:2138
,
lld:C0546969
;
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.
}
dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_provenance
{
dgn-np:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_assertion
dcterms:description
"[We studied an extended family with AD inheritance of branchial arch anomalies (BAA), hearing loss, and ear pits, whose phenotype differed from that of patients with BOR in that none of the affected members had renal abnormalities or lacrimal duct stenosis.]. 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:9788564
;
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:NP244158.RADF2sOf80T1xVFG9_uEz_S5-rrCLKeJFBhEg4Hox9WVk130_publicationInfo
{
this:
dcterms:created
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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
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pav:authoredBy
<
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> , <
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> , <
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> ;
pav:createdBy
<
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pav:version
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