@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP351395.RAljV0Zg3s82V8KTBpMzhwnwRkP9032z3gpWQB8b3V56c
> .
@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:NP351395.RAljV0Zg3s82V8KTBpMzhwnwRkP9032z3gpWQB8b3V56c130_head
{
this:
np:hasAssertion
dgn-np:NP351395.RAljV0Zg3s82V8KTBpMzhwnwRkP9032z3gpWQB8b3V56c130_assertion
;
np:hasProvenance
dgn-np:NP351395.RAljV0Zg3s82V8KTBpMzhwnwRkP9032z3gpWQB8b3V56c130_provenance
;
np:hasPublicationInfo
dgn-np:NP351395.RAljV0Zg3s82V8KTBpMzhwnwRkP9032z3gpWQB8b3V56c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP351395.RAljV0Zg3s82V8KTBpMzhwnwRkP9032z3gpWQB8b3V56c130_assertion
a
np:Assertion
.
dgn-np:NP351395.RAljV0Zg3s82V8KTBpMzhwnwRkP9032z3gpWQB8b3V56c130_provenance
a
np:Provenance
.
dgn-np:NP351395.RAljV0Zg3s82V8KTBpMzhwnwRkP9032z3gpWQB8b3V56c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP351395.RAljV0Zg3s82V8KTBpMzhwnwRkP9032z3gpWQB8b3V56c130_assertion
{
miriam-gene:3949
a
ncit:C16612
.
lld:C0010054
a
ncit:C7057
.
dgn-gda:DGN00c68a4ef260a4cbb55dbc88e944e7ab
sio:SIO_000628
miriam-gene:3949
,
lld:C0010054
;
a
sio:SIO_001121
.
}
dgn-np:NP351395.RAljV0Zg3s82V8KTBpMzhwnwRkP9032z3gpWQB8b3V56c130_provenance
{
dgn-np:NP351395.RAljV0Zg3s82V8KTBpMzhwnwRkP9032z3gpWQB8b3V56c130_assertion
dcterms:description
"[Homozygotes and compound heterozygotes (i.e., those who carry two different FH genes) are very rare (one in 1,000,000) have severe hypercholesterolemia with xanthomas, and develop coronary heart disease early in life.]. 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:2563220
;
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:NP351395.RAljV0Zg3s82V8KTBpMzhwnwRkP9032z3gpWQB8b3V56c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:26+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" .
}