@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP618204.RAN4X4c1LO-WffXkk4aZX2n-N0GqSF7ZD_XV4t-aaZxQs
> .
@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:NP618204.RAN4X4c1LO-WffXkk4aZX2n-N0GqSF7ZD_XV4t-aaZxQs130_head
{
this:
np:hasAssertion
dgn-np:NP618204.RAN4X4c1LO-WffXkk4aZX2n-N0GqSF7ZD_XV4t-aaZxQs130_assertion
;
np:hasProvenance
dgn-np:NP618204.RAN4X4c1LO-WffXkk4aZX2n-N0GqSF7ZD_XV4t-aaZxQs130_provenance
;
np:hasPublicationInfo
dgn-np:NP618204.RAN4X4c1LO-WffXkk4aZX2n-N0GqSF7ZD_XV4t-aaZxQs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP618204.RAN4X4c1LO-WffXkk4aZX2n-N0GqSF7ZD_XV4t-aaZxQs130_assertion
a
np:Assertion
.
dgn-np:NP618204.RAN4X4c1LO-WffXkk4aZX2n-N0GqSF7ZD_XV4t-aaZxQs130_provenance
a
np:Provenance
.
dgn-np:NP618204.RAN4X4c1LO-WffXkk4aZX2n-N0GqSF7ZD_XV4t-aaZxQs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP618204.RAN4X4c1LO-WffXkk4aZX2n-N0GqSF7ZD_XV4t-aaZxQs130_assertion
{
miriam-gene:26580
a
ncit:C16612
.
lld:C0007194
a
ncit:C7057
.
dgn-gda:DGNac3b448a98a6740d54dbf9bf35de4203
sio:SIO_000628
miriam-gene:26580
,
lld:C0007194
;
a
sio:SIO_001121
.
}
dgn-np:NP618204.RAN4X4c1LO-WffXkk4aZX2n-N0GqSF7ZD_XV4t-aaZxQs130_provenance
{
dgn-np:NP618204.RAN4X4c1LO-WffXkk4aZX2n-N0GqSF7ZD_XV4t-aaZxQs130_assertion
dcterms:description
"[In all subjects, hepatic dysfunction, hyperlipidaemia, diabetes mellitus, and hypertrophic cardiomyopathy were significant contributors to morbidity with no clear differences in their prevalence between subjects with BSCL1 or BSCL2 and those with evidence against cosegregation with either chromosome 9 or 11 (designated BSCLX).]. 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:12362029
;
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:NP618204.RAN4X4c1LO-WffXkk4aZX2n-N0GqSF7ZD_XV4t-aaZxQs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:13+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" .
}