@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP808116.RAuBviLx36oAMhN7LTvmkB4Yu9kfvbKifvl7l_2YgvftM
> .
@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:NP808116.RAuBviLx36oAMhN7LTvmkB4Yu9kfvbKifvl7l_2YgvftM130_head
{
this:
np:hasAssertion
dgn-np:NP808116.RAuBviLx36oAMhN7LTvmkB4Yu9kfvbKifvl7l_2YgvftM130_assertion
;
np:hasProvenance
dgn-np:NP808116.RAuBviLx36oAMhN7LTvmkB4Yu9kfvbKifvl7l_2YgvftM130_provenance
;
np:hasPublicationInfo
dgn-np:NP808116.RAuBviLx36oAMhN7LTvmkB4Yu9kfvbKifvl7l_2YgvftM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP808116.RAuBviLx36oAMhN7LTvmkB4Yu9kfvbKifvl7l_2YgvftM130_assertion
a
np:Assertion
.
dgn-np:NP808116.RAuBviLx36oAMhN7LTvmkB4Yu9kfvbKifvl7l_2YgvftM130_provenance
a
np:Provenance
.
dgn-np:NP808116.RAuBviLx36oAMhN7LTvmkB4Yu9kfvbKifvl7l_2YgvftM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP808116.RAuBviLx36oAMhN7LTvmkB4Yu9kfvbKifvl7l_2YgvftM130_assertion
{
miriam-gene:2581
a
ncit:C16612
.
lld:C0023521
a
ncit:C7057
.
dgn-gda:DGNaba4b6b88215883f66b09463ddf7064d
sio:SIO_000628
miriam-gene:2581
,
lld:C0023521
;
a
sio:SIO_001121
.
}
dgn-np:NP808116.RAuBviLx36oAMhN7LTvmkB4Yu9kfvbKifvl7l_2YgvftM130_provenance
{
dgn-np:NP808116.RAuBviLx36oAMhN7LTvmkB4Yu9kfvbKifvl7l_2YgvftM130_assertion
dcterms:description
"[Krabbe disease or globoid cell leukodystrophy is an autosomal recessively inherited disorder caused by the deficiency of galactocerebrosidase, the lysosomal enzyme that catalyzes the hydrolysis of galactose from galactosylceramide and galactosylsphingosine (psychosine).]. 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:20418135
;
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:NP808116.RAuBviLx36oAMhN7LTvmkB4Yu9kfvbKifvl7l_2YgvftM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:51+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" .
}