@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c
> .
@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 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:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_head
{
this:
np:hasAssertion
dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_assertion
;
np:hasProvenance
dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_provenance
;
np:hasPublicationInfo
dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_assertion
a
np:Assertion
.
dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_provenance
a
np:Provenance
.
dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_assertion
{
miriam-gene:368
a
ncit:C16612
.
lld:C0033847
a
ncit:C7057
.
dgn-gda:DGN6d916cfc091a6b43ad15e68f7fd59728
sio:SIO_000628
miriam-gene:368
,
lld:C0033847
;
a
sio:SIO_001122
.
}
dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_provenance
{
dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_assertion
dcterms:description
"[We recently published the precise chromosomal localization on chromosome 16p13.1 of the genetic defect underlying pseudoxanthoma elasticum (PXE), an inherited disorder characterized by progressive calcification of elastic fibers in skin, eye, and the cardiovascular system.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:10954200
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP976.RAzfSh2qzFdwTtst4ChI62A4taSSekcZ3mhFzS7PfKd0c130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:50+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" .
}