@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP969284.RAOfyq3p4E8A7hgIrt_WKQB18P3N57IHAXhRHKEPbQBFg
> .
@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:NP969284.RAOfyq3p4E8A7hgIrt_WKQB18P3N57IHAXhRHKEPbQBFg130_head
{
this:
np:hasAssertion
dgn-np:NP969284.RAOfyq3p4E8A7hgIrt_WKQB18P3N57IHAXhRHKEPbQBFg130_assertion
;
np:hasProvenance
dgn-np:NP969284.RAOfyq3p4E8A7hgIrt_WKQB18P3N57IHAXhRHKEPbQBFg130_provenance
;
np:hasPublicationInfo
dgn-np:NP969284.RAOfyq3p4E8A7hgIrt_WKQB18P3N57IHAXhRHKEPbQBFg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP969284.RAOfyq3p4E8A7hgIrt_WKQB18P3N57IHAXhRHKEPbQBFg130_assertion
a
np:Assertion
.
dgn-np:NP969284.RAOfyq3p4E8A7hgIrt_WKQB18P3N57IHAXhRHKEPbQBFg130_provenance
a
np:Provenance
.
dgn-np:NP969284.RAOfyq3p4E8A7hgIrt_WKQB18P3N57IHAXhRHKEPbQBFg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP969284.RAOfyq3p4E8A7hgIrt_WKQB18P3N57IHAXhRHKEPbQBFg130_assertion
{
miriam-gene:3949
a
ncit:C16612
.
lld:C0020445
a
ncit:C7057
.
dgn-gda:DGN958644b87fdbf02c13ff7f8a7e55c837
sio:SIO_000628
miriam-gene:3949
,
lld:C0020445
;
a
sio:SIO_001121
.
}
dgn-np:NP969284.RAOfyq3p4E8A7hgIrt_WKQB18P3N57IHAXhRHKEPbQBFg130_provenance
{
dgn-np:NP969284.RAOfyq3p4E8A7hgIrt_WKQB18P3N57IHAXhRHKEPbQBFg130_assertion
dcterms:description
"[Familial hypercholesterolaemia (FH) is caused by an autosomal dominant mutation of the low density lipoprotein (LDL) receptor gene, resulting in high levels of LDL cholesterol and premature coronary artery disease (P-CAD).]. 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:22434290
;
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:NP969284.RAOfyq3p4E8A7hgIrt_WKQB18P3N57IHAXhRHKEPbQBFg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:04+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" .
}