@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP344290.RAfkiX7Q3HOOq2t_62YHMY9cMYqtG6mzKmm9fMKw7EngU
> .
@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:NP344290.RAfkiX7Q3HOOq2t_62YHMY9cMYqtG6mzKmm9fMKw7EngU130_head
{
this:
np:hasAssertion
dgn-np:NP344290.RAfkiX7Q3HOOq2t_62YHMY9cMYqtG6mzKmm9fMKw7EngU130_assertion
;
np:hasProvenance
dgn-np:NP344290.RAfkiX7Q3HOOq2t_62YHMY9cMYqtG6mzKmm9fMKw7EngU130_provenance
;
np:hasPublicationInfo
dgn-np:NP344290.RAfkiX7Q3HOOq2t_62YHMY9cMYqtG6mzKmm9fMKw7EngU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP344290.RAfkiX7Q3HOOq2t_62YHMY9cMYqtG6mzKmm9fMKw7EngU130_assertion
a
np:Assertion
.
dgn-np:NP344290.RAfkiX7Q3HOOq2t_62YHMY9cMYqtG6mzKmm9fMKw7EngU130_provenance
a
np:Provenance
.
dgn-np:NP344290.RAfkiX7Q3HOOq2t_62YHMY9cMYqtG6mzKmm9fMKw7EngU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP344290.RAfkiX7Q3HOOq2t_62YHMY9cMYqtG6mzKmm9fMKw7EngU130_assertion
{
miriam-gene:4891
a
ncit:C16612
.
lld:C0002871
a
ncit:C7057
.
dgn-gda:DGNee8fae302609eb9cd4f35de1ebf4fe46
sio:SIO_000628
miriam-gene:4891
,
lld:C0002871
;
a
sio:SIO_001121
.
}
dgn-np:NP344290.RAfkiX7Q3HOOq2t_62YHMY9cMYqtG6mzKmm9fMKw7EngU130_provenance
{
dgn-np:NP344290.RAfkiX7Q3HOOq2t_62YHMY9cMYqtG6mzKmm9fMKw7EngU130_assertion
dcterms:description
"[Our data confirm the major role of DMT1 in the maintenance of iron homeostasis in humans and demonstrate that the N491S mutation, through its deleterious effect on protein trafficking, contributes together with the G212V mutation to the development of anemia and hepatic iron overload.]. 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:21871825
;
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:NP344290.RAfkiX7Q3HOOq2t_62YHMY9cMYqtG6mzKmm9fMKw7EngU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:22+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" .
}