@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP486073.RAlCb_qF5xYaoaeV8mEH-gUVS9GXEz5vRGXqtU7MhGtZc
> .
@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:NP486073.RAlCb_qF5xYaoaeV8mEH-gUVS9GXEz5vRGXqtU7MhGtZc130_head
{
this:
np:hasAssertion
dgn-np:NP486073.RAlCb_qF5xYaoaeV8mEH-gUVS9GXEz5vRGXqtU7MhGtZc130_assertion
;
np:hasProvenance
dgn-np:NP486073.RAlCb_qF5xYaoaeV8mEH-gUVS9GXEz5vRGXqtU7MhGtZc130_provenance
;
np:hasPublicationInfo
dgn-np:NP486073.RAlCb_qF5xYaoaeV8mEH-gUVS9GXEz5vRGXqtU7MhGtZc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP486073.RAlCb_qF5xYaoaeV8mEH-gUVS9GXEz5vRGXqtU7MhGtZc130_assertion
a
np:Assertion
.
dgn-np:NP486073.RAlCb_qF5xYaoaeV8mEH-gUVS9GXEz5vRGXqtU7MhGtZc130_provenance
a
np:Provenance
.
dgn-np:NP486073.RAlCb_qF5xYaoaeV8mEH-gUVS9GXEz5vRGXqtU7MhGtZc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP486073.RAlCb_qF5xYaoaeV8mEH-gUVS9GXEz5vRGXqtU7MhGtZc130_assertion
{
miriam-gene:3077
a
ncit:C16612
.
lld:C0392514
a
ncit:C7057
.
dgn-gda:DGNf4e09d0ec3db8895a9d77246c3db52da
sio:SIO_000628
miriam-gene:3077
,
lld:C0392514
;
a
sio:SIO_001122
.
}
dgn-np:NP486073.RAlCb_qF5xYaoaeV8mEH-gUVS9GXEz5vRGXqtU7MhGtZc130_provenance
{
dgn-np:NP486073.RAlCb_qF5xYaoaeV8mEH-gUVS9GXEz5vRGXqtU7MhGtZc130_assertion
dcterms:description
"[To determine the allele frequency in the north Indian population of the two mutations in the HFE gene, the C282Y and H63D, which are responsible for causing hereditary haemochromatosis particularly in Caucasians of north European descent.]. 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:15777346
;
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:NP486073.RAlCb_qF5xYaoaeV8mEH-gUVS9GXEz5vRGXqtU7MhGtZc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:25+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" .
}