@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP380830.RAT5II8lmItJEdqVTwWIGnlE5mN-jiSXUQZi4SndXs-Us
> .
@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/v4.0.0/void/
> .
dgn-np:NP380830.RAT5II8lmItJEdqVTwWIGnlE5mN-jiSXUQZi4SndXs-Us130_head
{
this:
np:hasAssertion
dgn-np:NP380830.RAT5II8lmItJEdqVTwWIGnlE5mN-jiSXUQZi4SndXs-Us130_assertion
;
np:hasProvenance
dgn-np:NP380830.RAT5II8lmItJEdqVTwWIGnlE5mN-jiSXUQZi4SndXs-Us130_provenance
;
np:hasPublicationInfo
dgn-np:NP380830.RAT5II8lmItJEdqVTwWIGnlE5mN-jiSXUQZi4SndXs-Us130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP380830.RAT5II8lmItJEdqVTwWIGnlE5mN-jiSXUQZi4SndXs-Us130_assertion
a
np:Assertion
.
dgn-np:NP380830.RAT5II8lmItJEdqVTwWIGnlE5mN-jiSXUQZi4SndXs-Us130_provenance
a
np:Provenance
.
dgn-np:NP380830.RAT5II8lmItJEdqVTwWIGnlE5mN-jiSXUQZi4SndXs-Us130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP380830.RAT5II8lmItJEdqVTwWIGnlE5mN-jiSXUQZi4SndXs-Us130_assertion
{
miriam-gene:3077
a
ncit:C16612
.
lld:C0012715
a
ncit:C7057
.
dgn-gda:DGN0a1cd91216e78e6cb3b5146a572f8159
sio:SIO_000628
miriam-gene:3077
,
lld:C0012715
;
a
sio:SIO_001122
.
}
dgn-np:NP380830.RAT5II8lmItJEdqVTwWIGnlE5mN-jiSXUQZi4SndXs-Us130_provenance
{
dgn-np:NP380830.RAT5II8lmItJEdqVTwWIGnlE5mN-jiSXUQZi4SndXs-Us130_assertion
dcterms:description
"[Hereditary hemochromatosis (HH) is one of the most common autosomal recessive disorders of iron metabolism among Caucasians, and it is associated with C282Y mutation of the HFE gene in populations of Celtic origins.]. 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:12537659
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP380830.RAT5II8lmItJEdqVTwWIGnlE5mN-jiSXUQZi4SndXs-Us130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:38+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}