@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP303535.RA88bGAMt7HgUNbdZAALG0XUrfFbSjaFftdQ-o8vl1yaM
> .
@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:NP303535.RA88bGAMt7HgUNbdZAALG0XUrfFbSjaFftdQ-o8vl1yaM130_head
{
this:
np:hasAssertion
dgn-np:NP303535.RA88bGAMt7HgUNbdZAALG0XUrfFbSjaFftdQ-o8vl1yaM130_assertion
;
np:hasProvenance
dgn-np:NP303535.RA88bGAMt7HgUNbdZAALG0XUrfFbSjaFftdQ-o8vl1yaM130_provenance
;
np:hasPublicationInfo
dgn-np:NP303535.RA88bGAMt7HgUNbdZAALG0XUrfFbSjaFftdQ-o8vl1yaM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP303535.RA88bGAMt7HgUNbdZAALG0XUrfFbSjaFftdQ-o8vl1yaM130_assertion
a
np:Assertion
.
dgn-np:NP303535.RA88bGAMt7HgUNbdZAALG0XUrfFbSjaFftdQ-o8vl1yaM130_provenance
a
np:Provenance
.
dgn-np:NP303535.RA88bGAMt7HgUNbdZAALG0XUrfFbSjaFftdQ-o8vl1yaM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP303535.RA88bGAMt7HgUNbdZAALG0XUrfFbSjaFftdQ-o8vl1yaM130_assertion
{
miriam-gene:4000
a
ncit:C16612
.
lld:C0242339
a
ncit:C7057
.
dgn-gda:DGNd4f361a35337f5511ea5be563011d957
sio:SIO_000628
miriam-gene:4000
,
lld:C0242339
;
a
sio:SIO_001122
.
}
dgn-np:NP303535.RA88bGAMt7HgUNbdZAALG0XUrfFbSjaFftdQ-o8vl1yaM130_provenance
{
dgn-np:NP303535.RA88bGAMt7HgUNbdZAALG0XUrfFbSjaFftdQ-o8vl1yaM130_assertion
dcterms:description
"[FPLD was recently discovered to result from mutated LMNA (R482Q; OMIM #150330.0010), which is the gene encoding nuclear lamins A and C. Results from extended pedigrees indicate that dyslipidemia precedes the plasma glucose abnormalities in FPLD subjects with mutant LMNA, and that the hyperinsulinemia is present early in the course of the disease.]. 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:11122771
;
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:NP303535.RA88bGAMt7HgUNbdZAALG0XUrfFbSjaFftdQ-o8vl1yaM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:03+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" .
}