@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1102321.RArQ_WBa6QZNENuHa1_oeB6Ka9ZbNxmYkvSyTTlvL1KJk
> .
@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:NP1102321.RArQ_WBa6QZNENuHa1_oeB6Ka9ZbNxmYkvSyTTlvL1KJk130_head
{
this:
np:hasAssertion
dgn-np:NP1102321.RArQ_WBa6QZNENuHa1_oeB6Ka9ZbNxmYkvSyTTlvL1KJk130_assertion
;
np:hasProvenance
dgn-np:NP1102321.RArQ_WBa6QZNENuHa1_oeB6Ka9ZbNxmYkvSyTTlvL1KJk130_provenance
;
np:hasPublicationInfo
dgn-np:NP1102321.RArQ_WBa6QZNENuHa1_oeB6Ka9ZbNxmYkvSyTTlvL1KJk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1102321.RArQ_WBa6QZNENuHa1_oeB6Ka9ZbNxmYkvSyTTlvL1KJk130_assertion
a
np:Assertion
.
dgn-np:NP1102321.RArQ_WBa6QZNENuHa1_oeB6Ka9ZbNxmYkvSyTTlvL1KJk130_provenance
a
np:Provenance
.
dgn-np:NP1102321.RArQ_WBa6QZNENuHa1_oeB6Ka9ZbNxmYkvSyTTlvL1KJk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1102321.RArQ_WBa6QZNENuHa1_oeB6Ka9ZbNxmYkvSyTTlvL1KJk130_assertion
{
miriam-gene:30061
a
ncit:C16612
.
lld:C1851316
a
ncit:C7057
.
dgn-gda:DGN6cbaa03c85c53c9787559e74caa13e49
sio:SIO_000628
miriam-gene:30061
,
lld:C1851316
;
a
sio:SIO_001121
.
}
dgn-np:NP1102321.RArQ_WBa6QZNENuHa1_oeB6Ka9ZbNxmYkvSyTTlvL1KJk130_provenance
{
dgn-np:NP1102321.RArQ_WBa6QZNENuHa1_oeB6Ka9ZbNxmYkvSyTTlvL1KJk130_assertion
dcterms:description
"[Mutations in the FPN gene (SLC40A1) lead to autosomal dominant iron overload diseases related either to loss or to gain of function, and usually characterized by normal or low transferrin saturation versus elevated transferrin saturation, respectively.]. 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:23943237
;
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:NP1102321.RArQ_WBa6QZNENuHa1_oeB6Ka9ZbNxmYkvSyTTlvL1KJk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:05+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" .
}