@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig
> .
@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/v3.0.0/void/
> .
dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_head
{
this:
np:hasAssertion
dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_assertion
;
np:hasProvenance
dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_provenance
;
np:hasPublicationInfo
dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_assertion
a
np:Assertion
.
dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_provenance
a
np:Provenance
.
dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_assertion
{
miriam-gene:1471
a
ncit:C16612
.
lld:C2936349
a
ncit:C7057
.
dgn-gda:DGN8a8f00f316d4d8470da0139852f4d092
sio:SIO_000628
miriam-gene:1471
,
lld:C2936349
;
a
sio:SIO_001121
.
}
dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_provenance
{
dgn-np:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_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-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP333620.RAhxJ4zMs7QAtWtsXDwWVH-4kdB-TV1_c2oeD-GAZp8ig130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:40:52+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}