@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP52029.RACACo5uYtUp7oTA6v9PtRhbpj5F3detnBY62gwU-juWw
> .
@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:NP52029.RACACo5uYtUp7oTA6v9PtRhbpj5F3detnBY62gwU-juWw130_head
{
this:
np:hasAssertion
dgn-np:NP52029.RACACo5uYtUp7oTA6v9PtRhbpj5F3detnBY62gwU-juWw130_assertion
;
np:hasProvenance
dgn-np:NP52029.RACACo5uYtUp7oTA6v9PtRhbpj5F3detnBY62gwU-juWw130_provenance
;
np:hasPublicationInfo
dgn-np:NP52029.RACACo5uYtUp7oTA6v9PtRhbpj5F3detnBY62gwU-juWw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP52029.RACACo5uYtUp7oTA6v9PtRhbpj5F3detnBY62gwU-juWw130_assertion
a
np:Assertion
.
dgn-np:NP52029.RACACo5uYtUp7oTA6v9PtRhbpj5F3detnBY62gwU-juWw130_provenance
a
np:Provenance
.
dgn-np:NP52029.RACACo5uYtUp7oTA6v9PtRhbpj5F3detnBY62gwU-juWw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP52029.RACACo5uYtUp7oTA6v9PtRhbpj5F3detnBY62gwU-juWw130_assertion
{
miriam-gene:5265
a
ncit:C16612
.
lld:C0221757
a
ncit:C7057
.
dgn-gda:DGN809cf9b6d3e62a73049c68d86ef21b5c
sio:SIO_000628
miriam-gene:5265
,
lld:C0221757
;
a
sio:SIO_001122
.
}
dgn-np:NP52029.RACACo5uYtUp7oTA6v9PtRhbpj5F3detnBY62gwU-juWw130_provenance
{
dgn-np:NP52029.RACACo5uYtUp7oTA6v9PtRhbpj5F3detnBY62gwU-juWw130_assertion
dcterms:description
"[Alpha-1-antitrypsin deficiency (AAT deficiency) is one of the most common serious hereditary disorders in the world, as its affects all major racial subgroups worldwide, and there are an estimated 120.5 million carriers and deficient subjects worldwide.]. 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:14616761
;
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:NP52029.RACACo5uYtUp7oTA6v9PtRhbpj5F3detnBY62gwU-juWw130_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" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}