@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw
> .
@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/v3.0.0/void/
> .
dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_head
{
this:
np:hasAssertion
dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_assertion
;
np:hasProvenance
dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_provenance
;
np:hasPublicationInfo
dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_assertion
a
np:Assertion
.
dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_provenance
a
np:Provenance
.
dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_assertion
{
miriam-gene:3931
a
ncit:C16612
.
lld:C0023195
a
ncit:C7057
.
dgn-gda:DGNf48b05cbd641af5cd85b0efb9bcc71ee
sio:SIO_000628
miriam-gene:3931
,
lld:C0023195
;
a
sio:SIO_001121
.
}
dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_provenance
{
dgn-np:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_assertion
dcterms:description
"[The gene encoding for LCAT has been mapped to chromosome 16q22.1, and several mutations of this gene cause LCAT deficiency which is inherited as an autosomal recessive trait and which is characterized by corneal opacities, normochromic normocytic anemia, and renal dysfunction.]. 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:11423760
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP532306.RAIZ-AmZoCyHbS9uQ_izgp-CeuY2h4VTcwa9pd7hdn2Cw130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:42:54+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}