@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M
> .
@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:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_head
{
this:
np:hasAssertion
dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_assertion
;
np:hasProvenance
dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_provenance
;
np:hasPublicationInfo
dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_assertion
a
np:Assertion
.
dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_provenance
a
np:Provenance
.
dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_assertion
{
miriam-gene:5251
a
ncit:C16612
.
lld:C0282529
a
ncit:C7057
.
dgn-gda:DGN10c15038eec28907f2318928083c6dce
sio:SIO_000628
miriam-gene:5251
,
lld:C0282529
;
a
sio:SIO_001121
.
}
dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_provenance
{
dgn-np:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_assertion
dcterms:description
"[Peroxisome assembly disorders including Zellweger syndrome and rhizomelic chondrodysplasia punctata are caused by genetic defects in PEX genes and the altering of their proteins, peroxins, which are necessary for the importation of targeted proteins into the peroxisomes.]. 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:10590918
;
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:NP269483.RArmnSSFht3ob2H_McYKuwR6spTR3ufhzQEBUsmIDse0M130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:48+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" .
}