@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1363085.RAzQcWHLQBUoZd5To-L0qxAatXTQgBUCEnOEKywvFn7Ug
> .
@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/v4.0.0/void/
> .
dgn-np:NP1363085.RAzQcWHLQBUoZd5To-L0qxAatXTQgBUCEnOEKywvFn7Ug130_head
{
this:
np:hasAssertion
dgn-np:NP1363085.RAzQcWHLQBUoZd5To-L0qxAatXTQgBUCEnOEKywvFn7Ug130_assertion
;
np:hasProvenance
dgn-np:NP1363085.RAzQcWHLQBUoZd5To-L0qxAatXTQgBUCEnOEKywvFn7Ug130_provenance
;
np:hasPublicationInfo
dgn-np:NP1363085.RAzQcWHLQBUoZd5To-L0qxAatXTQgBUCEnOEKywvFn7Ug130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1363085.RAzQcWHLQBUoZd5To-L0qxAatXTQgBUCEnOEKywvFn7Ug130_assertion
a
np:Assertion
.
dgn-np:NP1363085.RAzQcWHLQBUoZd5To-L0qxAatXTQgBUCEnOEKywvFn7Ug130_provenance
a
np:Provenance
.
dgn-np:NP1363085.RAzQcWHLQBUoZd5To-L0qxAatXTQgBUCEnOEKywvFn7Ug130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1363085.RAzQcWHLQBUoZd5To-L0qxAatXTQgBUCEnOEKywvFn7Ug130_assertion
{
miriam-gene:535
a
ncit:C16612
.
lld:C0010068
a
ncit:C7057
.
dgn-gda:DGN5a5e50bbc4d8dc833fac7d5a730d1f74
sio:SIO_000628
miriam-gene:535
,
lld:C0010068
;
a
sio:SIO_001122
.
}
dgn-np:NP1363085.RAzQcWHLQBUoZd5To-L0qxAatXTQgBUCEnOEKywvFn7Ug130_provenance
{
dgn-np:NP1363085.RAzQcWHLQBUoZd5To-L0qxAatXTQgBUCEnOEKywvFn7Ug130_assertion
dcterms:description
"[This polymorphism is situated between the transcriptional starting site and the signal peptide start coding site (intron 1), so may influence the efficiency of surrounding splicing, thereby interfering with the expression of the apo A-I gene product, or serve as a linkage marker with a hitherto unidentified mutation defect responsible for hyperlipidemia and/or premature coronary heart disease.]. 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:8934336
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1363085.RAzQcWHLQBUoZd5To-L0qxAatXTQgBUCEnOEKywvFn7Ug130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:04+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}