@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI
> .
@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:NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_head
{
this:
np:hasAssertion
dgn-np:NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_assertion
;
np:hasProvenance
dgn-np:NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_provenance
;
np:hasPublicationInfo
dgn-np:NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_assertion
a
np:Assertion
.
dgn-np:NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_provenance
a
np:Provenance
.
dgn-np:NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_assertion
{
miriam-gene:5498
a
ncit:C16612
.
lld:C0009951
a
ncit:C7057
.
dgn-gda:DGN24879eb05bab0627cdda3dc71dab1816
sio:SIO_000628
miriam-gene:5498
,
lld:C0009951
;
a
sio:SIO_001121
.
}
dgn-np:NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_provenance
{
dgn-np:NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_assertion
dcterms:description
"[The rare homozygous variant of VP is characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal abnormalities of the hand and, less constantly, short stature, mental retardation and convulsions.]. 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:9811936
;
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:NP776773.RALkfIVZhtbay9bcJY8CR31PEBKM2FMG11JS2dDYi_zuI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:51+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" .
}