@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP572111.RAaouNyTd8SBJ2cFRID9oB2bo7v9nm5kaJR4f0lq3V0Is
> .
@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:NP572111.RAaouNyTd8SBJ2cFRID9oB2bo7v9nm5kaJR4f0lq3V0Is130_head
{
this:
np:hasAssertion
dgn-np:NP572111.RAaouNyTd8SBJ2cFRID9oB2bo7v9nm5kaJR4f0lq3V0Is130_assertion
;
np:hasProvenance
dgn-np:NP572111.RAaouNyTd8SBJ2cFRID9oB2bo7v9nm5kaJR4f0lq3V0Is130_provenance
;
np:hasPublicationInfo
dgn-np:NP572111.RAaouNyTd8SBJ2cFRID9oB2bo7v9nm5kaJR4f0lq3V0Is130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP572111.RAaouNyTd8SBJ2cFRID9oB2bo7v9nm5kaJR4f0lq3V0Is130_assertion
a
np:Assertion
.
dgn-np:NP572111.RAaouNyTd8SBJ2cFRID9oB2bo7v9nm5kaJR4f0lq3V0Is130_provenance
a
np:Provenance
.
dgn-np:NP572111.RAaouNyTd8SBJ2cFRID9oB2bo7v9nm5kaJR4f0lq3V0Is130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP572111.RAaouNyTd8SBJ2cFRID9oB2bo7v9nm5kaJR4f0lq3V0Is130_assertion
{
miriam-gene:3077
a
ncit:C16612
.
lld:C1858664
a
ncit:C7057
.
dgn-gda:DGN736d88c607e0b231e3cb1599c994b714
sio:SIO_000628
miriam-gene:3077
,
lld:C1858664
;
a
sio:SIO_001121
.
}
dgn-np:NP572111.RAaouNyTd8SBJ2cFRID9oB2bo7v9nm5kaJR4f0lq3V0Is130_provenance
{
dgn-np:NP572111.RAaouNyTd8SBJ2cFRID9oB2bo7v9nm5kaJR4f0lq3V0Is130_assertion
dcterms:description
"[By contrast, the frequencies of the common H63D mutation did not differ, and the allele frequencies of the less frequently observed sequence deviations as substitution S65C in the HFE gene and mutation Y250X in the TFR2 gene underlying hemochromatosis type 3 (HFE3) were < 0.02 both in PCT patients and controls.]. 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:17298224
;
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:NP572111.RAaouNyTd8SBJ2cFRID9oB2bo7v9nm5kaJR4f0lq3V0Is130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:45+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" .
}