@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP531774.RAzB4OrMoUlH_p0ob4eOH8V415RNcNx92NHUpjkuZ5_k4
> .
@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:NP531774.RAzB4OrMoUlH_p0ob4eOH8V415RNcNx92NHUpjkuZ5_k4130_head
{
this:
np:hasAssertion
dgn-np:NP531774.RAzB4OrMoUlH_p0ob4eOH8V415RNcNx92NHUpjkuZ5_k4130_assertion
;
np:hasProvenance
dgn-np:NP531774.RAzB4OrMoUlH_p0ob4eOH8V415RNcNx92NHUpjkuZ5_k4130_provenance
;
np:hasPublicationInfo
dgn-np:NP531774.RAzB4OrMoUlH_p0ob4eOH8V415RNcNx92NHUpjkuZ5_k4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP531774.RAzB4OrMoUlH_p0ob4eOH8V415RNcNx92NHUpjkuZ5_k4130_assertion
a
np:Assertion
.
dgn-np:NP531774.RAzB4OrMoUlH_p0ob4eOH8V415RNcNx92NHUpjkuZ5_k4130_provenance
a
np:Provenance
.
dgn-np:NP531774.RAzB4OrMoUlH_p0ob4eOH8V415RNcNx92NHUpjkuZ5_k4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP531774.RAzB4OrMoUlH_p0ob4eOH8V415RNcNx92NHUpjkuZ5_k4130_assertion
{
miriam-gene:215
a
ncit:C16612
.
lld:C0266273
a
ncit:C7057
.
dgn-gda:DGNdfa534d76d0f06de2eb2b569e941b146
sio:SIO_000628
miriam-gene:215
,
lld:C0266273
;
a
sio:SIO_001121
.
}
dgn-np:NP531774.RAzB4OrMoUlH_p0ob4eOH8V415RNcNx92NHUpjkuZ5_k4130_provenance
{
dgn-np:NP531774.RAzB4OrMoUlH_p0ob4eOH8V415RNcNx92NHUpjkuZ5_k4130_assertion
dcterms:description
"[X-linked adrenoleukodystrophy (X-ALD) is a severe neurodegenerative disease caused by loss of function of the peroxisomal transporter ABCD1 (ALD), which results in accumulation of very long chain fatty acids (VLCFAs) in organs and serum, central demyelination and peripheral axonopathy and Addison's disease.]. 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:15489218
;
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:NP531774.RAzB4OrMoUlH_p0ob4eOH8V415RNcNx92NHUpjkuZ5_k4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:21+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" .
}