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http://rdf.disgenet.org/nanopublications.trig#NP532278.RAc8ZhRJ2A_BW7M5VUWisPIUdZgKnY5jShUFLZ-MXNgno
> .
@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:NP532278.RAc8ZhRJ2A_BW7M5VUWisPIUdZgKnY5jShUFLZ-MXNgno130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
dgn-np:NP532278.RAc8ZhRJ2A_BW7M5VUWisPIUdZgKnY5jShUFLZ-MXNgno130_publicationInfo
;
a
np:Nanopublication
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dgn-np:NP532278.RAc8ZhRJ2A_BW7M5VUWisPIUdZgKnY5jShUFLZ-MXNgno130_assertion
a
np:Assertion
.
dgn-np:NP532278.RAc8ZhRJ2A_BW7M5VUWisPIUdZgKnY5jShUFLZ-MXNgno130_provenance
a
np:Provenance
.
dgn-np:NP532278.RAc8ZhRJ2A_BW7M5VUWisPIUdZgKnY5jShUFLZ-MXNgno130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:2202
a
ncit:C16612
.
lld:C1260959
a
ncit:C7057
.
dgn-gda:DGN113812ca8d821d1d0afa337b884f2fd3
sio:SIO_000628
miriam-gene:2202
,
lld:C1260959
;
a
sio:SIO_001121
.
}
dgn-np:NP532278.RAc8ZhRJ2A_BW7M5VUWisPIUdZgKnY5jShUFLZ-MXNgno130_provenance
{
dgn-np:NP532278.RAc8ZhRJ2A_BW7M5VUWisPIUdZgKnY5jShUFLZ-MXNgno130_assertion
dcterms:description
"[The Arg345Trp disease-associated allele of the EFEMP1 gene does not appear to be associated with cases of early onset drusen that fall outside the diagnosis of malattia leventinese or Doyne honeycomb retinal dystrophy, nor does it appear to play a role in familial age-related macular degeneration.]. 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:12427233
;
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:NP532278.RAc8ZhRJ2A_BW7M5VUWisPIUdZgKnY5jShUFLZ-MXNgno130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:21+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
<
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> , <
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> , <
http://orcid.org/0000-0002-9383-528X
> , <
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> ;
pav:createdBy
<
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> ;
pav:version
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dgn-void:disgenetrdf
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}