@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP407524.RAAWGu_YRTmhqPXem11pmkeVfVo4x6L7cQGBrtafU3cw4
> .
@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:NP407524.RAAWGu_YRTmhqPXem11pmkeVfVo4x6L7cQGBrtafU3cw4130_head
{
this:
np:hasAssertion
dgn-np:NP407524.RAAWGu_YRTmhqPXem11pmkeVfVo4x6L7cQGBrtafU3cw4130_assertion
;
np:hasProvenance
dgn-np:NP407524.RAAWGu_YRTmhqPXem11pmkeVfVo4x6L7cQGBrtafU3cw4130_provenance
;
np:hasPublicationInfo
dgn-np:NP407524.RAAWGu_YRTmhqPXem11pmkeVfVo4x6L7cQGBrtafU3cw4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP407524.RAAWGu_YRTmhqPXem11pmkeVfVo4x6L7cQGBrtafU3cw4130_assertion
a
np:Assertion
.
dgn-np:NP407524.RAAWGu_YRTmhqPXem11pmkeVfVo4x6L7cQGBrtafU3cw4130_provenance
a
np:Provenance
.
dgn-np:NP407524.RAAWGu_YRTmhqPXem11pmkeVfVo4x6L7cQGBrtafU3cw4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP407524.RAAWGu_YRTmhqPXem11pmkeVfVo4x6L7cQGBrtafU3cw4130_assertion
{
miriam-gene:3077
a
ncit:C16612
.
lld:C0392514
a
ncit:C7057
.
dgn-gda:DGNf8be36ca2f1b897f0d721e5a4091e90b
sio:SIO_000628
miriam-gene:3077
,
lld:C0392514
;
a
sio:SIO_001122
.
}
dgn-np:NP407524.RAAWGu_YRTmhqPXem11pmkeVfVo4x6L7cQGBrtafU3cw4130_provenance
{
dgn-np:NP407524.RAAWGu_YRTmhqPXem11pmkeVfVo4x6L7cQGBrtafU3cw4130_assertion
dcterms:description
"[The C282Y mutation of the HFE gene, held responsible for HH, has been identified as the major genetic basis for the phenotypic expression of HH whereas two additional mutations of the HFE H63D and S65C gene appear to be associated with a milder form of HH.]. 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:12952143
;
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:NP407524.RAAWGu_YRTmhqPXem11pmkeVfVo4x6L7cQGBrtafU3cw4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:50+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" .
}