@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP922432.RA62AvTViAu0BAff1r474FoO8eiphUsWpoZ9ap43Ek2RE
> .
@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:NP922432.RA62AvTViAu0BAff1r474FoO8eiphUsWpoZ9ap43Ek2RE130_head
{
this:
np:hasAssertion
dgn-np:NP922432.RA62AvTViAu0BAff1r474FoO8eiphUsWpoZ9ap43Ek2RE130_assertion
;
np:hasProvenance
dgn-np:NP922432.RA62AvTViAu0BAff1r474FoO8eiphUsWpoZ9ap43Ek2RE130_provenance
;
np:hasPublicationInfo
dgn-np:NP922432.RA62AvTViAu0BAff1r474FoO8eiphUsWpoZ9ap43Ek2RE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP922432.RA62AvTViAu0BAff1r474FoO8eiphUsWpoZ9ap43Ek2RE130_assertion
a
np:Assertion
.
dgn-np:NP922432.RA62AvTViAu0BAff1r474FoO8eiphUsWpoZ9ap43Ek2RE130_provenance
a
np:Provenance
.
dgn-np:NP922432.RA62AvTViAu0BAff1r474FoO8eiphUsWpoZ9ap43Ek2RE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP922432.RA62AvTViAu0BAff1r474FoO8eiphUsWpoZ9ap43Ek2RE130_assertion
{
miriam-gene:1356
a
ncit:C16612
.
lld:C0012715
a
ncit:C7057
.
dgn-gda:DGN0b7ef214b44a51c60c8c0691bba7fbd0
sio:SIO_000628
miriam-gene:1356
,
lld:C0012715
;
a
sio:SIO_001121
.
}
dgn-np:NP922432.RA62AvTViAu0BAff1r474FoO8eiphUsWpoZ9ap43Ek2RE130_provenance
{
dgn-np:NP922432.RA62AvTViAu0BAff1r474FoO8eiphUsWpoZ9ap43Ek2RE130_assertion
dcterms:description
"[The presence of this mutation in conjunction with the clinical and pathologic findings demonstrates an essential role for ceruloplasmin in human biology and identifies aceruloplasminemia as an autosomal recessive disorder of iron metabolism.]. 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:7708681
;
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:NP922432.RA62AvTViAu0BAff1r474FoO8eiphUsWpoZ9ap43Ek2RE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:26+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" .
}