@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP25608.RA3VnMkW3uBcSX9w4aVCaW0nimm_fOvkcCqw6actGzgWI
> .
@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:NP25608.RA3VnMkW3uBcSX9w4aVCaW0nimm_fOvkcCqw6actGzgWI130_head
{
this:
np:hasAssertion
dgn-np:NP25608.RA3VnMkW3uBcSX9w4aVCaW0nimm_fOvkcCqw6actGzgWI130_assertion
;
np:hasProvenance
dgn-np:NP25608.RA3VnMkW3uBcSX9w4aVCaW0nimm_fOvkcCqw6actGzgWI130_provenance
;
np:hasPublicationInfo
dgn-np:NP25608.RA3VnMkW3uBcSX9w4aVCaW0nimm_fOvkcCqw6actGzgWI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP25608.RA3VnMkW3uBcSX9w4aVCaW0nimm_fOvkcCqw6actGzgWI130_assertion
a
np:Assertion
.
dgn-np:NP25608.RA3VnMkW3uBcSX9w4aVCaW0nimm_fOvkcCqw6actGzgWI130_provenance
a
np:Provenance
.
dgn-np:NP25608.RA3VnMkW3uBcSX9w4aVCaW0nimm_fOvkcCqw6actGzgWI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP25608.RA3VnMkW3uBcSX9w4aVCaW0nimm_fOvkcCqw6actGzgWI130_assertion
{
miriam-gene:5828
a
ncit:C16612
.
lld:C1832200
a
ncit:C7057
.
dgn-gda:DGN6de17240a56a7633ed36b40544eb4878
sio:SIO_000628
miriam-gene:5828
,
lld:C1832200
;
a
sio:SIO_001121
.
}
dgn-np:NP25608.RA3VnMkW3uBcSX9w4aVCaW0nimm_fOvkcCqw6actGzgWI130_provenance
{
dgn-np:NP25608.RA3VnMkW3uBcSX9w4aVCaW0nimm_fOvkcCqw6actGzgWI130_assertion
dcterms:description
"[Peroxisome biogenesis disorders (PBD) comprise three phenotypes including Zellweger syndrome (ZS) (the most severe), neonatal adrenoleucodystrophy, and infantile Refsum disease (IRD) (the most mild), and can be classified into at least 12 genetic complementation groups, which are not predictive of the phenotypes.]. 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:10528859
;
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:NP25608.RA3VnMkW3uBcSX9w4aVCaW0nimm_fOvkcCqw6actGzgWI130_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" .
}