@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP427195.RA50z0qQ11IP_1IECfIuiCOXH-vznrfAiAZOxCs0BzxWA
> .
@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:NP427195.RA50z0qQ11IP_1IECfIuiCOXH-vznrfAiAZOxCs0BzxWA130_head
{
this:
np:hasAssertion
dgn-np:NP427195.RA50z0qQ11IP_1IECfIuiCOXH-vznrfAiAZOxCs0BzxWA130_assertion
;
np:hasProvenance
dgn-np:NP427195.RA50z0qQ11IP_1IECfIuiCOXH-vznrfAiAZOxCs0BzxWA130_provenance
;
np:hasPublicationInfo
dgn-np:NP427195.RA50z0qQ11IP_1IECfIuiCOXH-vznrfAiAZOxCs0BzxWA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP427195.RA50z0qQ11IP_1IECfIuiCOXH-vznrfAiAZOxCs0BzxWA130_assertion
a
np:Assertion
.
dgn-np:NP427195.RA50z0qQ11IP_1IECfIuiCOXH-vznrfAiAZOxCs0BzxWA130_provenance
a
np:Provenance
.
dgn-np:NP427195.RA50z0qQ11IP_1IECfIuiCOXH-vznrfAiAZOxCs0BzxWA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP427195.RA50z0qQ11IP_1IECfIuiCOXH-vznrfAiAZOxCs0BzxWA130_assertion
{
miriam-gene:212
a
ncit:C16612
.
lld:C0002871
a
ncit:C7057
.
dgn-gda:DGN0a48a89ded420bdb72240d88df18ae4f
sio:SIO_000628
miriam-gene:212
,
lld:C0002871
;
a
sio:SIO_001121
.
}
dgn-np:NP427195.RA50z0qQ11IP_1IECfIuiCOXH-vznrfAiAZOxCs0BzxWA130_provenance
{
dgn-np:NP427195.RA50z0qQ11IP_1IECfIuiCOXH-vznrfAiAZOxCs0BzxWA130_assertion
dcterms:description
"[We conclude that an ALAS2 promoter region mutation could partly account for iron overload in the present proband, and that this or other ALAS2 mutations could explain the occurrence of iron overload in other whites or blacks with or without anemia.]. 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:15885606
;
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:NP427195.RA50z0qQ11IP_1IECfIuiCOXH-vznrfAiAZOxCs0BzxWA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:13+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" .
}