@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP25578.RALVla-rmvhqGRpGe1B-BJAU2fDXkjzKiuRevXlI63JYg
> .
@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:NP25578.RALVla-rmvhqGRpGe1B-BJAU2fDXkjzKiuRevXlI63JYg130_head
{
this:
np:hasAssertion
dgn-np:NP25578.RALVla-rmvhqGRpGe1B-BJAU2fDXkjzKiuRevXlI63JYg130_assertion
;
np:hasProvenance
dgn-np:NP25578.RALVla-rmvhqGRpGe1B-BJAU2fDXkjzKiuRevXlI63JYg130_provenance
;
np:hasPublicationInfo
dgn-np:NP25578.RALVla-rmvhqGRpGe1B-BJAU2fDXkjzKiuRevXlI63JYg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP25578.RALVla-rmvhqGRpGe1B-BJAU2fDXkjzKiuRevXlI63JYg130_assertion
a
np:Assertion
.
dgn-np:NP25578.RALVla-rmvhqGRpGe1B-BJAU2fDXkjzKiuRevXlI63JYg130_provenance
a
np:Provenance
.
dgn-np:NP25578.RALVla-rmvhqGRpGe1B-BJAU2fDXkjzKiuRevXlI63JYg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP25578.RALVla-rmvhqGRpGe1B-BJAU2fDXkjzKiuRevXlI63JYg130_assertion
{
miriam-gene:5189
a
ncit:C16612
.
lld:C1832200
a
ncit:C7057
.
dgn-gda:DGN1ce38f1f2bacc9ff3f5e54c56c44a079
sio:SIO_000628
miriam-gene:5189
,
lld:C1832200
;
a
sio:SIO_001121
.
}
dgn-np:NP25578.RALVla-rmvhqGRpGe1B-BJAU2fDXkjzKiuRevXlI63JYg130_provenance
{
dgn-np:NP25578.RALVla-rmvhqGRpGe1B-BJAU2fDXkjzKiuRevXlI63JYg130_assertion
dcterms:description
"[The peroxisome biogenesis disorders (PBDs), including Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy (NALD), are autosomal recessive diseases caused by defects in peroxisome assembly, for which at least 10 complementation groups have been reported.]. 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:9539740
;
prov:wasDerivedFrom
dgn-void:ctd_human-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP25578.RALVla-rmvhqGRpGe1B-BJAU2fDXkjzKiuRevXlI63JYg130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:37:54+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" .
}