@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP830333.RActJJd2UkQE-HqE50YVBDap_J-S0g53cB7xhQr3fMK6w
> .
@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/v3.0.0/void/
> .
dgn-np:NP830333.RActJJd2UkQE-HqE50YVBDap_J-S0g53cB7xhQr3fMK6w130_head
{
this:
np:hasAssertion
dgn-np:NP830333.RActJJd2UkQE-HqE50YVBDap_J-S0g53cB7xhQr3fMK6w130_assertion
;
np:hasProvenance
dgn-np:NP830333.RActJJd2UkQE-HqE50YVBDap_J-S0g53cB7xhQr3fMK6w130_provenance
;
np:hasPublicationInfo
dgn-np:NP830333.RActJJd2UkQE-HqE50YVBDap_J-S0g53cB7xhQr3fMK6w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP830333.RActJJd2UkQE-HqE50YVBDap_J-S0g53cB7xhQr3fMK6w130_assertion
a
np:Assertion
.
dgn-np:NP830333.RActJJd2UkQE-HqE50YVBDap_J-S0g53cB7xhQr3fMK6w130_provenance
a
np:Provenance
.
dgn-np:NP830333.RActJJd2UkQE-HqE50YVBDap_J-S0g53cB7xhQr3fMK6w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP830333.RActJJd2UkQE-HqE50YVBDap_J-S0g53cB7xhQr3fMK6w130_assertion
{
miriam-gene:9780
a
ncit:C16612
.
lld:C0272051
a
ncit:C7057
.
dgn-gda:DGN3c86cfed5a6beb8b3f60c7f118508fc5
sio:SIO_000628
miriam-gene:9780
,
lld:C0272051
;
a
sio:SIO_001121
.
}
dgn-np:NP830333.RActJJd2UkQE-HqE50YVBDap_J-S0g53cB7xhQr3fMK6w130_provenance
{
dgn-np:NP830333.RActJJd2UkQE-HqE50YVBDap_J-S0g53cB7xhQr3fMK6w130_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-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP830333.RActJJd2UkQE-HqE50YVBDap_J-S0g53cB7xhQr3fMK6w130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:03+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}