@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP644994.RA8uO7-E5N2TxfPLooNMcLIb8Io9lLYO4b2YNsitkn1vM
> .
@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:NP644994.RA8uO7-E5N2TxfPLooNMcLIb8Io9lLYO4b2YNsitkn1vM130_head
{
this:
np:hasAssertion
dgn-np:NP644994.RA8uO7-E5N2TxfPLooNMcLIb8Io9lLYO4b2YNsitkn1vM130_assertion
;
np:hasProvenance
dgn-np:NP644994.RA8uO7-E5N2TxfPLooNMcLIb8Io9lLYO4b2YNsitkn1vM130_provenance
;
np:hasPublicationInfo
dgn-np:NP644994.RA8uO7-E5N2TxfPLooNMcLIb8Io9lLYO4b2YNsitkn1vM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP644994.RA8uO7-E5N2TxfPLooNMcLIb8Io9lLYO4b2YNsitkn1vM130_assertion
a
np:Assertion
.
dgn-np:NP644994.RA8uO7-E5N2TxfPLooNMcLIb8Io9lLYO4b2YNsitkn1vM130_provenance
a
np:Provenance
.
dgn-np:NP644994.RA8uO7-E5N2TxfPLooNMcLIb8Io9lLYO4b2YNsitkn1vM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP644994.RA8uO7-E5N2TxfPLooNMcLIb8Io9lLYO4b2YNsitkn1vM130_assertion
{
miriam-gene:5265
a
ncit:C16612
.
lld:C0030326
a
ncit:C7057
.
dgn-gda:DGN920298d96e045aa758c4d2685d5c3356
sio:SIO_000628
miriam-gene:5265
,
lld:C0030326
;
a
sio:SIO_001121
.
}
dgn-np:NP644994.RA8uO7-E5N2TxfPLooNMcLIb8Io9lLYO4b2YNsitkn1vM130_provenance
{
dgn-np:NP644994.RA8uO7-E5N2TxfPLooNMcLIb8Io9lLYO4b2YNsitkn1vM130_assertion
dcterms:description
"[Alpha-1-antitrypsin deficiency (AATD) is a genetic disorder that manifests as pulmonary emphysema, liver cirrhosis and, rarely, as the skin disease panniculitis, and is characterized by low serum levels of AAT, the main protease inhibitor (PI) in human serum.]. 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:18565211
;
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:NP644994.RA8uO7-E5N2TxfPLooNMcLIb8Io9lLYO4b2YNsitkn1vM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:28+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" .
}