@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP52018.RAazhD6igJ1j50vetoYidnkFZvyFzSWsNswcp7Wjni4sM
> .
@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:NP52018.RAazhD6igJ1j50vetoYidnkFZvyFzSWsNswcp7Wjni4sM130_head
{
this:
np:hasAssertion
dgn-np:NP52018.RAazhD6igJ1j50vetoYidnkFZvyFzSWsNswcp7Wjni4sM130_assertion
;
np:hasProvenance
dgn-np:NP52018.RAazhD6igJ1j50vetoYidnkFZvyFzSWsNswcp7Wjni4sM130_provenance
;
np:hasPublicationInfo
dgn-np:NP52018.RAazhD6igJ1j50vetoYidnkFZvyFzSWsNswcp7Wjni4sM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP52018.RAazhD6igJ1j50vetoYidnkFZvyFzSWsNswcp7Wjni4sM130_assertion
a
np:Assertion
.
dgn-np:NP52018.RAazhD6igJ1j50vetoYidnkFZvyFzSWsNswcp7Wjni4sM130_provenance
a
np:Provenance
.
dgn-np:NP52018.RAazhD6igJ1j50vetoYidnkFZvyFzSWsNswcp7Wjni4sM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP52018.RAazhD6igJ1j50vetoYidnkFZvyFzSWsNswcp7Wjni4sM130_assertion
{
miriam-gene:5265
a
ncit:C16612
.
lld:C0023895
a
ncit:C7057
.
dgn-gda:DGN03a78acf40fd4c12de8b3129c43ef5ab
sio:SIO_000628
miriam-gene:5265
,
lld:C0023895
;
a
sio:SIO_001122
.
}
dgn-np:NP52018.RAazhD6igJ1j50vetoYidnkFZvyFzSWsNswcp7Wjni4sM130_provenance
{
dgn-np:NP52018.RAazhD6igJ1j50vetoYidnkFZvyFzSWsNswcp7Wjni4sM130_assertion
dcterms:description
"[ Patients with heterozygous AATD of PiZ type bear an increased risk for chronic liver disease. If at all, this genetic defect will become clinically relevant only in middle-aged or old adults. It rarely causes liver cirrhosis even without concurrent liver disease. It can aggravate or can be aggravated by advanced coexistent chronic liver diseases. PiZ immunohistochemistry is an easy, highly specific method to detect this metabolic defect on liver biopsies.]. 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:11131449
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP52018.RAazhD6igJ1j50vetoYidnkFZvyFzSWsNswcp7Wjni4sM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:24+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" .
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"v2.1.0" .
}