@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc
> .
@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:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_head
{
this:
np:hasAssertion
dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_assertion
;
np:hasProvenance
dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_provenance
;
np:hasPublicationInfo
dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_assertion
a
np:Assertion
.
dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_provenance
a
np:Provenance
.
dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_assertion
{
miriam-gene:30061
a
ncit:C16612
.
lld:C0019247
a
ncit:C7057
.
dgn-gda:DGNc9fe2e3f620cabbb8e17e9fcbb509fc9
sio:SIO_000628
miriam-gene:30061
,
lld:C0019247
;
a
sio:SIO_001121
.
}
dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_provenance
{
dgn-np:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_assertion
dcterms:description
"[Mutations in the SLC40A1 gene result in a dominant genetic disorder [ferroportin disease; hereditary hemochromatosis type (HH) IV], characterized by iron overload with two different clinical manifestations, normal transferrin saturation with macrophage iron accumulation (the most prevalent type) or high transferrin saturation with hepatocyte iron accumulation (classical hemochromatosis phenotype).]. 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:17997113
;
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:NP204912.RAmcxhWtgGyOBpzAWlotzQ-pBVdnY0AJj0z5kxqOR2mKc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:53+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" .
}