@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP188805.RAjSy4SQxEOngWhUlIp4U05L4ny0gC6jh6oN9jjcgz9IY
> .
@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:NP188805.RAjSy4SQxEOngWhUlIp4U05L4ny0gC6jh6oN9jjcgz9IY130_head
{
this:
np:hasAssertion
dgn-np:NP188805.RAjSy4SQxEOngWhUlIp4U05L4ny0gC6jh6oN9jjcgz9IY130_assertion
;
np:hasProvenance
dgn-np:NP188805.RAjSy4SQxEOngWhUlIp4U05L4ny0gC6jh6oN9jjcgz9IY130_provenance
;
np:hasPublicationInfo
dgn-np:NP188805.RAjSy4SQxEOngWhUlIp4U05L4ny0gC6jh6oN9jjcgz9IY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP188805.RAjSy4SQxEOngWhUlIp4U05L4ny0gC6jh6oN9jjcgz9IY130_assertion
a
np:Assertion
.
dgn-np:NP188805.RAjSy4SQxEOngWhUlIp4U05L4ny0gC6jh6oN9jjcgz9IY130_provenance
a
np:Provenance
.
dgn-np:NP188805.RAjSy4SQxEOngWhUlIp4U05L4ny0gC6jh6oN9jjcgz9IY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP188805.RAjSy4SQxEOngWhUlIp4U05L4ny0gC6jh6oN9jjcgz9IY130_assertion
{
miriam-gene:1471
a
ncit:C16612
.
lld:C0002726
a
ncit:C7057
.
dgn-gda:DGNb9c78b87e8e705ba79a6c4ec989cbf3f
sio:SIO_000628
miriam-gene:1471
,
lld:C0002726
;
a
sio:SIO_001121
.
}
dgn-np:NP188805.RAjSy4SQxEOngWhUlIp4U05L4ny0gC6jh6oN9jjcgz9IY130_provenance
{
dgn-np:NP188805.RAjSy4SQxEOngWhUlIp4U05L4ny0gC6jh6oN9jjcgz9IY130_assertion
dcterms:description
"[A variant of cystatin C lacking the first NH2-terminal residues and having one amino acid substitution at position 68 forms amyloid deposits mainly in the walls of brain arteries, causing fatal strokes in Icelandic patients with familial cerebral hemorrhage secondary to a form of an autosomal dominant amyloidosis.]. 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:2541223
;
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:NP188805.RAjSy4SQxEOngWhUlIp4U05L4ny0gC6jh6oN9jjcgz9IY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:43+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" .
}