@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP554283.RAnn5l1CkPdXSojRqHSMb0eyr5pPLasbexo7z9YoeqHs0
> .
@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:NP554283.RAnn5l1CkPdXSojRqHSMb0eyr5pPLasbexo7z9YoeqHs0130_head
{
this:
np:hasAssertion
dgn-np:NP554283.RAnn5l1CkPdXSojRqHSMb0eyr5pPLasbexo7z9YoeqHs0130_assertion
;
np:hasProvenance
dgn-np:NP554283.RAnn5l1CkPdXSojRqHSMb0eyr5pPLasbexo7z9YoeqHs0130_provenance
;
np:hasPublicationInfo
dgn-np:NP554283.RAnn5l1CkPdXSojRqHSMb0eyr5pPLasbexo7z9YoeqHs0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP554283.RAnn5l1CkPdXSojRqHSMb0eyr5pPLasbexo7z9YoeqHs0130_assertion
a
np:Assertion
.
dgn-np:NP554283.RAnn5l1CkPdXSojRqHSMb0eyr5pPLasbexo7z9YoeqHs0130_provenance
a
np:Provenance
.
dgn-np:NP554283.RAnn5l1CkPdXSojRqHSMb0eyr5pPLasbexo7z9YoeqHs0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP554283.RAnn5l1CkPdXSojRqHSMb0eyr5pPLasbexo7z9YoeqHs0130_assertion
{
miriam-gene:5621
a
ncit:C16612
.
lld:C0017495
a
ncit:C7057
.
dgn-gda:DGN2f7101b2949f3a57fc23432aa3538e8d
sio:SIO_000628
miriam-gene:5621
,
lld:C0017495
;
a
sio:SIO_001121
.
}
dgn-np:NP554283.RAnn5l1CkPdXSojRqHSMb0eyr5pPLasbexo7z9YoeqHs0130_provenance
{
dgn-np:NP554283.RAnn5l1CkPdXSojRqHSMb0eyr5pPLasbexo7z9YoeqHs0130_assertion
dcterms:description
"[Despite their experimental transmissibility, missense and insertional mutations in the prion protein gene are associated with both GSS and familial CJD, demonstrating that the human familial cases are autosomal dominant diseases.]. 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:1677164
;
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:NP554283.RAnn5l1CkPdXSojRqHSMb0eyr5pPLasbexo7z9YoeqHs0130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:56+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" .
}