@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP254748.RAxOnnY4dsiAVBjTaGmhAuYq42VcfWqOsqD3QOVOpKpbM
> .
@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:NP254748.RAxOnnY4dsiAVBjTaGmhAuYq42VcfWqOsqD3QOVOpKpbM130_head
{
this:
np:hasAssertion
dgn-np:NP254748.RAxOnnY4dsiAVBjTaGmhAuYq42VcfWqOsqD3QOVOpKpbM130_assertion
;
np:hasProvenance
dgn-np:NP254748.RAxOnnY4dsiAVBjTaGmhAuYq42VcfWqOsqD3QOVOpKpbM130_provenance
;
np:hasPublicationInfo
dgn-np:NP254748.RAxOnnY4dsiAVBjTaGmhAuYq42VcfWqOsqD3QOVOpKpbM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP254748.RAxOnnY4dsiAVBjTaGmhAuYq42VcfWqOsqD3QOVOpKpbM130_assertion
a
np:Assertion
.
dgn-np:NP254748.RAxOnnY4dsiAVBjTaGmhAuYq42VcfWqOsqD3QOVOpKpbM130_provenance
a
np:Provenance
.
dgn-np:NP254748.RAxOnnY4dsiAVBjTaGmhAuYq42VcfWqOsqD3QOVOpKpbM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP254748.RAxOnnY4dsiAVBjTaGmhAuYq42VcfWqOsqD3QOVOpKpbM130_assertion
{
miriam-gene:19
a
ncit:C16612
.
lld:C0019247
a
ncit:C7057
.
dgn-gda:DGNe8da62bd2973c6679347caeb469a1662
sio:SIO_000628
miriam-gene:19
,
lld:C0019247
;
a
sio:SIO_001121
.
}
dgn-np:NP254748.RAxOnnY4dsiAVBjTaGmhAuYq42VcfWqOsqD3QOVOpKpbM130_provenance
{
dgn-np:NP254748.RAxOnnY4dsiAVBjTaGmhAuYq42VcfWqOsqD3QOVOpKpbM130_assertion
dcterms:description
"[Mutations in ABCA1, a member of the ATP-binding cassette family, have been shown to underlie Tangier disease (TD) and familial hypoalphalipoproteinemia (FHA), which are genetic disorders that are characterized by depressed concentrations of plasma high density lipoprotein (HDL) cholesterol.]. 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:10938021
;
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:NP254748.RAxOnnY4dsiAVBjTaGmhAuYq42VcfWqOsqD3QOVOpKpbM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:22+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" .
}