@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA
> .
@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:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_head
{
this:
np:hasAssertion
dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_assertion
;
np:hasProvenance
dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_assertion
a
np:Assertion
.
dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_provenance
a
np:Provenance
.
dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_assertion
{
miriam-gene:3949
a
ncit:C16612
.
lld:C0020445
a
ncit:C7057
.
dgn-gda:DGN6cc33cef30f531b1876e22ded5198368
sio:SIO_000628
miriam-gene:3949
,
lld:C0020445
;
a
sio:SIO_001121
.
}
dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_provenance
{
dgn-np:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_assertion
dcterms:description
"[As expected, the gene for the LDL receptor (LDLR) is located on the same chromosome as the gene for the disease familial hypercholesterolemia, which has been previously mapped to chromosome 19 by pedigree studies and is caused by allelic mutations at the LDL receptor locus.]. 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:6326146
;
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:NP1305679.RAsidMBVtVUG0TPpGLZPfOg_QPNm7y3dtD9t-ftpRxOuA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:37+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" .
}