@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP234168.RAIi-dzRz1w8WwpR64jtiOb2nIsoMk21kHD3vCbpltbD0
> .
@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:NP234168.RAIi-dzRz1w8WwpR64jtiOb2nIsoMk21kHD3vCbpltbD0130_head
{
this:
np:hasAssertion
dgn-np:NP234168.RAIi-dzRz1w8WwpR64jtiOb2nIsoMk21kHD3vCbpltbD0130_assertion
;
np:hasProvenance
dgn-np:NP234168.RAIi-dzRz1w8WwpR64jtiOb2nIsoMk21kHD3vCbpltbD0130_provenance
;
np:hasPublicationInfo
dgn-np:NP234168.RAIi-dzRz1w8WwpR64jtiOb2nIsoMk21kHD3vCbpltbD0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP234168.RAIi-dzRz1w8WwpR64jtiOb2nIsoMk21kHD3vCbpltbD0130_assertion
a
np:Assertion
.
dgn-np:NP234168.RAIi-dzRz1w8WwpR64jtiOb2nIsoMk21kHD3vCbpltbD0130_provenance
a
np:Provenance
.
dgn-np:NP234168.RAIi-dzRz1w8WwpR64jtiOb2nIsoMk21kHD3vCbpltbD0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP234168.RAIi-dzRz1w8WwpR64jtiOb2nIsoMk21kHD3vCbpltbD0130_assertion
{
miriam-gene:148738
a
ncit:C16612
.
lld:C0282193
a
ncit:C7057
.
dgn-gda:DGNd3c967be05ade34043c8b01593b83528
sio:SIO_000628
miriam-gene:148738
,
lld:C0282193
;
a
sio:SIO_001121
.
}
dgn-np:NP234168.RAIi-dzRz1w8WwpR64jtiOb2nIsoMk21kHD3vCbpltbD0130_provenance
{
dgn-np:NP234168.RAIi-dzRz1w8WwpR64jtiOb2nIsoMk21kHD3vCbpltbD0130_assertion
dcterms:description
"[Juvenile hemochromatosis is a severe form of hereditary iron overload that has thus far been linked to pathogenic mutations of the gene coding for hemojuvelin (HJV), on chromosome 1, or, more rarely, that coding for hepcidin ( HAMP ), on chromosome 19.]. 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:15685557
;
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:NP234168.RAIi-dzRz1w8WwpR64jtiOb2nIsoMk21kHD3vCbpltbD0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:11+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" .
}