@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP62963.RAZybR1o3d_bHO35Ys0OYSEa47sE0hDT58j9L_mIlLspk
> .
@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:NP62963.RAZybR1o3d_bHO35Ys0OYSEa47sE0hDT58j9L_mIlLspk130_head
{
this:
np:hasAssertion
dgn-np:NP62963.RAZybR1o3d_bHO35Ys0OYSEa47sE0hDT58j9L_mIlLspk130_assertion
;
np:hasProvenance
dgn-np:NP62963.RAZybR1o3d_bHO35Ys0OYSEa47sE0hDT58j9L_mIlLspk130_provenance
;
np:hasPublicationInfo
dgn-np:NP62963.RAZybR1o3d_bHO35Ys0OYSEa47sE0hDT58j9L_mIlLspk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP62963.RAZybR1o3d_bHO35Ys0OYSEa47sE0hDT58j9L_mIlLspk130_assertion
a
np:Assertion
.
dgn-np:NP62963.RAZybR1o3d_bHO35Ys0OYSEa47sE0hDT58j9L_mIlLspk130_provenance
a
np:Provenance
.
dgn-np:NP62963.RAZybR1o3d_bHO35Ys0OYSEa47sE0hDT58j9L_mIlLspk130_publicationInfo
a
np:PublicationInfo
.
}
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{
miriam-gene:3931
a
ncit:C16612
.
lld:C0023195
a
ncit:C7057
.
dgn-gda:DGN0d3e594e96f8171daca5cf2a2ebedd19
sio:SIO_000628
miriam-gene:3931
,
lld:C0023195
;
a
sio:SIO_001122
.
}
dgn-np:NP62963.RAZybR1o3d_bHO35Ys0OYSEa47sE0hDT58j9L_mIlLspk130_provenance
{
dgn-np:NP62963.RAZybR1o3d_bHO35Ys0OYSEa47sE0hDT58j9L_mIlLspk130_assertion
dcterms:description
"[ To our knowledge, this is the second description in the literature of a patient with LCAT deficiency and secondary amyloidosis of the cornea. Additionally, LCAT deficiency is associated with anaemia and proteinuria. After a penetrating keratoplasty, prolonged wound healing is possible. Because of the bilateral corneal clouding, the ophthalmologist may help to identify patients with LCAT deficiency. Thus, it is possible to start antiarteriosclerotic therapy.]. 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:12886512
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP62963.RAZybR1o3d_bHO35Ys0OYSEa47sE0hDT58j9L_mIlLspk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:30+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" .
}