@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP318259.RAqXkLXAHgk9oLX6MZ4yfThBMTmudqP9FHZ6Vu7OvxwZw
> .
@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:NP318259.RAqXkLXAHgk9oLX6MZ4yfThBMTmudqP9FHZ6Vu7OvxwZw130_head
{
this:
np:hasAssertion
dgn-np:NP318259.RAqXkLXAHgk9oLX6MZ4yfThBMTmudqP9FHZ6Vu7OvxwZw130_assertion
;
np:hasProvenance
dgn-np:NP318259.RAqXkLXAHgk9oLX6MZ4yfThBMTmudqP9FHZ6Vu7OvxwZw130_provenance
;
np:hasPublicationInfo
dgn-np:NP318259.RAqXkLXAHgk9oLX6MZ4yfThBMTmudqP9FHZ6Vu7OvxwZw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP318259.RAqXkLXAHgk9oLX6MZ4yfThBMTmudqP9FHZ6Vu7OvxwZw130_assertion
a
np:Assertion
.
dgn-np:NP318259.RAqXkLXAHgk9oLX6MZ4yfThBMTmudqP9FHZ6Vu7OvxwZw130_provenance
a
np:Provenance
.
dgn-np:NP318259.RAqXkLXAHgk9oLX6MZ4yfThBMTmudqP9FHZ6Vu7OvxwZw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP318259.RAqXkLXAHgk9oLX6MZ4yfThBMTmudqP9FHZ6Vu7OvxwZw130_assertion
{
miriam-gene:3077
a
ncit:C16612
.
lld:C0018995
a
ncit:C7057
.
dgn-gda:DGNae730beb96243928dd7f0cfee054ef6e
sio:SIO_000628
miriam-gene:3077
,
lld:C0018995
;
a
sio:SIO_001122
.
}
dgn-np:NP318259.RAqXkLXAHgk9oLX6MZ4yfThBMTmudqP9FHZ6Vu7OvxwZw130_provenance
{
dgn-np:NP318259.RAqXkLXAHgk9oLX6MZ4yfThBMTmudqP9FHZ6Vu7OvxwZw130_assertion
dcterms:description
"[We conclude that Y250X is uncommon in Caucasians with hemochromatosis associated with atypical HFE genotypes, in African Americans with primary iron overload, and in the general Caucasian and African American population subgroups in central Alabama.]. 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:11358388
;
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:NP318259.RAqXkLXAHgk9oLX6MZ4yfThBMTmudqP9FHZ6Vu7OvxwZw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:09+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" .
}