@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP389877.RAUNDvM0lb8mNPhL4mwKbmcBuW_cGtte8uEi4A_wU7pvc
> .
@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:NP389877.RAUNDvM0lb8mNPhL4mwKbmcBuW_cGtte8uEi4A_wU7pvc130_head
{
this:
np:hasAssertion
dgn-np:NP389877.RAUNDvM0lb8mNPhL4mwKbmcBuW_cGtte8uEi4A_wU7pvc130_assertion
;
np:hasProvenance
dgn-np:NP389877.RAUNDvM0lb8mNPhL4mwKbmcBuW_cGtte8uEi4A_wU7pvc130_provenance
;
np:hasPublicationInfo
dgn-np:NP389877.RAUNDvM0lb8mNPhL4mwKbmcBuW_cGtte8uEi4A_wU7pvc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP389877.RAUNDvM0lb8mNPhL4mwKbmcBuW_cGtte8uEi4A_wU7pvc130_assertion
a
np:Assertion
.
dgn-np:NP389877.RAUNDvM0lb8mNPhL4mwKbmcBuW_cGtte8uEi4A_wU7pvc130_provenance
a
np:Provenance
.
dgn-np:NP389877.RAUNDvM0lb8mNPhL4mwKbmcBuW_cGtte8uEi4A_wU7pvc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP389877.RAUNDvM0lb8mNPhL4mwKbmcBuW_cGtte8uEi4A_wU7pvc130_assertion
{
miriam-gene:3077
a
ncit:C16612
.
lld:C0282193
a
ncit:C7057
.
dgn-gda:DGN720d435e5758df0d08fa6ad6bda3c015
sio:SIO_000628
miriam-gene:3077
,
lld:C0282193
;
a
sio:SIO_001122
.
}
dgn-np:NP389877.RAUNDvM0lb8mNPhL4mwKbmcBuW_cGtte8uEi4A_wU7pvc130_provenance
{
dgn-np:NP389877.RAUNDvM0lb8mNPhL4mwKbmcBuW_cGtte8uEi4A_wU7pvc130_assertion
dcterms:description
"[Our results show that the C282Y and H63D mutations of the HFE gene associated with hemochromatosis have measurable and consistent effects on iron indicators and are associated with liver disorders, but have no measurable effect on other iron overload-related symptoms and life-expectancy.]. 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:12678056
;
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:NP389877.RAUNDvM0lb8mNPhL4mwKbmcBuW_cGtte8uEi4A_wU7pvc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:42+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" .
}