@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP286867.RAKe3TkWTRGoXABPCZ5fbm0qy1_lSCmoqavQnjtogPIlE
> .
@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:NP286867.RAKe3TkWTRGoXABPCZ5fbm0qy1_lSCmoqavQnjtogPIlE130_head
{
this:
np:hasAssertion
dgn-np:NP286867.RAKe3TkWTRGoXABPCZ5fbm0qy1_lSCmoqavQnjtogPIlE130_assertion
;
np:hasProvenance
dgn-np:NP286867.RAKe3TkWTRGoXABPCZ5fbm0qy1_lSCmoqavQnjtogPIlE130_provenance
;
np:hasPublicationInfo
dgn-np:NP286867.RAKe3TkWTRGoXABPCZ5fbm0qy1_lSCmoqavQnjtogPIlE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP286867.RAKe3TkWTRGoXABPCZ5fbm0qy1_lSCmoqavQnjtogPIlE130_assertion
a
np:Assertion
.
dgn-np:NP286867.RAKe3TkWTRGoXABPCZ5fbm0qy1_lSCmoqavQnjtogPIlE130_provenance
a
np:Provenance
.
dgn-np:NP286867.RAKe3TkWTRGoXABPCZ5fbm0qy1_lSCmoqavQnjtogPIlE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP286867.RAKe3TkWTRGoXABPCZ5fbm0qy1_lSCmoqavQnjtogPIlE130_assertion
{
miriam-gene:255738
a
ncit:C16612
.
lld:C0020445
a
ncit:C7057
.
dgn-gda:DGNaec5c2dec5c3b3187ed11b9a32b5ede6
sio:SIO_000628
miriam-gene:255738
,
lld:C0020445
;
a
sio:SIO_001121
.
}
dgn-np:NP286867.RAKe3TkWTRGoXABPCZ5fbm0qy1_lSCmoqavQnjtogPIlE130_provenance
{
dgn-np:NP286867.RAKe3TkWTRGoXABPCZ5fbm0qy1_lSCmoqavQnjtogPIlE130_assertion
dcterms:description
"[Familial hypercholesterolemia (FH) is caused by mutations in the genes for LDLR, APOB or PCSK9, and identification of the causative mutation provides definitive diagnosis so that the patient can be treated, their relatives tested and, therefore, premature heart disease prevented.]. 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:23130880
;
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:NP286867.RAKe3TkWTRGoXABPCZ5fbm0qy1_lSCmoqavQnjtogPIlE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:43+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" .
}