@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08
> .
@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:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_head
{
this:
np:hasAssertion
dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_assertion
;
np:hasProvenance
dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_provenance
;
np:hasPublicationInfo
dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_assertion
a
np:Assertion
.
dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_provenance
a
np:Provenance
.
dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_assertion
{
miriam-gene:3077
a
ncit:C16612
.
lld:C0018995
a
ncit:C7057
.
dgn-gda:DGNdcd01e184e4060be38ec14efafd3f3aa
sio:SIO_000628
miriam-gene:3077
,
lld:C0018995
;
a
sio:SIO_001122
.
}
dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_provenance
{
dgn-np:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_assertion
dcterms:description
"[After the 1996 identification of the main causative gene HFE and confirmation that most patients were homozygous for the founder C282Y mutation, it became clear that some families were linked to rarer conditions, first named 'non-HFE haemochromatosis'.]. 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:16132052
;
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:NP511306.RA19z6_VVMjskOZFLh2m8NqfrD6gwJ4WZrYIzWbHvop08130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:36+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" .
}