@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP713276.RATGMTroFYhmtt0RWxIbvHgruCYM96T7Vbx4qCZOL2iLA
> .
@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:NP713276.RATGMTroFYhmtt0RWxIbvHgruCYM96T7Vbx4qCZOL2iLA130_head
{
this:
np:hasAssertion
dgn-np:NP713276.RATGMTroFYhmtt0RWxIbvHgruCYM96T7Vbx4qCZOL2iLA130_assertion
;
np:hasProvenance
dgn-np:NP713276.RATGMTroFYhmtt0RWxIbvHgruCYM96T7Vbx4qCZOL2iLA130_provenance
;
np:hasPublicationInfo
dgn-np:NP713276.RATGMTroFYhmtt0RWxIbvHgruCYM96T7Vbx4qCZOL2iLA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP713276.RATGMTroFYhmtt0RWxIbvHgruCYM96T7Vbx4qCZOL2iLA130_assertion
a
np:Assertion
.
dgn-np:NP713276.RATGMTroFYhmtt0RWxIbvHgruCYM96T7Vbx4qCZOL2iLA130_provenance
a
np:Provenance
.
dgn-np:NP713276.RATGMTroFYhmtt0RWxIbvHgruCYM96T7Vbx4qCZOL2iLA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP713276.RATGMTroFYhmtt0RWxIbvHgruCYM96T7Vbx4qCZOL2iLA130_assertion
{
miriam-gene:9780
a
ncit:C16612
.
lld:C0011175
a
ncit:C7057
.
dgn-gda:DGN052672e628a03de0d5e294aa4d96330f
sio:SIO_000628
miriam-gene:9780
,
lld:C0011175
;
a
sio:SIO_001121
.
}
dgn-np:NP713276.RATGMTroFYhmtt0RWxIbvHgruCYM96T7Vbx4qCZOL2iLA130_provenance
{
dgn-np:NP713276.RATGMTroFYhmtt0RWxIbvHgruCYM96T7Vbx4qCZOL2iLA130_assertion
dcterms:description
"[Familial xerocytosis (HX) in humans is an autosomal disease that causes dehydration of red blood cells resulting in hemolytic anemia which has been traced to two individual mutations in the mechanosensitive ion channel, PIEZO1.]. 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:23487776
;
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:NP713276.RATGMTroFYhmtt0RWxIbvHgruCYM96T7Vbx4qCZOL2iLA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:13+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" .
}