@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP67370.RAW2RbxwXfdMnWt2QFbEn-GK5oZPi4disIAeUVnSyCIng
> .
@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:NP67370.RAW2RbxwXfdMnWt2QFbEn-GK5oZPi4disIAeUVnSyCIng130_head
{
this:
np:hasAssertion
dgn-np:NP67370.RAW2RbxwXfdMnWt2QFbEn-GK5oZPi4disIAeUVnSyCIng130_assertion
;
np:hasProvenance
dgn-np:NP67370.RAW2RbxwXfdMnWt2QFbEn-GK5oZPi4disIAeUVnSyCIng130_provenance
;
np:hasPublicationInfo
dgn-np:NP67370.RAW2RbxwXfdMnWt2QFbEn-GK5oZPi4disIAeUVnSyCIng130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP67370.RAW2RbxwXfdMnWt2QFbEn-GK5oZPi4disIAeUVnSyCIng130_assertion
a
np:Assertion
.
dgn-np:NP67370.RAW2RbxwXfdMnWt2QFbEn-GK5oZPi4disIAeUVnSyCIng130_provenance
a
np:Provenance
.
dgn-np:NP67370.RAW2RbxwXfdMnWt2QFbEn-GK5oZPi4disIAeUVnSyCIng130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP67370.RAW2RbxwXfdMnWt2QFbEn-GK5oZPi4disIAeUVnSyCIng130_assertion
{
miriam-gene:3077
a
ncit:C16612
.
lld:C0282193
a
ncit:C7057
.
dgn-gda:DGN4cf23dc5d9544912cf99eb40d6a36f7d
sio:SIO_000628
miriam-gene:3077
,
lld:C0282193
;
a
sio:SIO_001122
.
}
dgn-np:NP67370.RAW2RbxwXfdMnWt2QFbEn-GK5oZPi4disIAeUVnSyCIng130_provenance
{
dgn-np:NP67370.RAW2RbxwXfdMnWt2QFbEn-GK5oZPi4disIAeUVnSyCIng130_assertion
dcterms:description
"[HJV p.A310G polymorphism and two intronic variants were found, but none of these alterations were associated with digenic inheritance with the HFE gene. Our data indicate that HJV and HAMP functional mutations are not frequent in these patients.]. 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:21039223
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP67370.RAW2RbxwXfdMnWt2QFbEn-GK5oZPi4disIAeUVnSyCIng130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:32+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" .
}