@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP145216.RAVPeCAU8fWsP1SIyzwwj8_KjLr2EV9CVXBFPHhc7N9OE
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP145216.RAVPeCAU8fWsP1SIyzwwj8_KjLr2EV9CVXBFPHhc7N9OE130_assertion
;
np:hasProvenance
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;
np:hasPublicationInfo
dgn-np:NP145216.RAVPeCAU8fWsP1SIyzwwj8_KjLr2EV9CVXBFPHhc7N9OE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP145216.RAVPeCAU8fWsP1SIyzwwj8_KjLr2EV9CVXBFPHhc7N9OE130_assertion
a
np:Assertion
.
dgn-np:NP145216.RAVPeCAU8fWsP1SIyzwwj8_KjLr2EV9CVXBFPHhc7N9OE130_provenance
a
np:Provenance
.
dgn-np:NP145216.RAVPeCAU8fWsP1SIyzwwj8_KjLr2EV9CVXBFPHhc7N9OE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP145216.RAVPeCAU8fWsP1SIyzwwj8_KjLr2EV9CVXBFPHhc7N9OE130_assertion
{
miriam-gene:7045
a
ncit:C16612
.
lld:C0002726
a
ncit:C7057
.
dgn-gda:DGNb3dcd48de68b87dd54223221a4bf9627
sio:SIO_000628
miriam-gene:7045
,
lld:C0002726
;
a
sio:SIO_001122
.
}
dgn-np:NP145216.RAVPeCAU8fWsP1SIyzwwj8_KjLr2EV9CVXBFPHhc7N9OE130_provenance
{
dgn-np:NP145216.RAVPeCAU8fWsP1SIyzwwj8_KjLr2EV9CVXBFPHhc7N9OE130_assertion
dcterms:description
"[Corneal amyloidosis with an autosomal dominant mode of inheritance is characterized clinically by the presence of refractile polymorphic corneal opacities, which is caused by an A546D mutation in the TGFBI 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:15177960
;
prov:wasDerivedFrom
dgn-void:lhgdn-20090331
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:lhgdn-20090331
pav:importedOn
"2009-03-31"^^
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:NP145216.RAVPeCAU8fWsP1SIyzwwj8_KjLr2EV9CVXBFPHhc7N9OE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:16+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" .
}