@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP306329.RAEEwq0d0A0yrj2PCvR7-RQ3tMv9j0O8s6PmP7jGKr7oQ
> .
@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:NP306329.RAEEwq0d0A0yrj2PCvR7-RQ3tMv9j0O8s6PmP7jGKr7oQ130_head
{
this:
np:hasAssertion
dgn-np:NP306329.RAEEwq0d0A0yrj2PCvR7-RQ3tMv9j0O8s6PmP7jGKr7oQ130_assertion
;
np:hasProvenance
dgn-np:NP306329.RAEEwq0d0A0yrj2PCvR7-RQ3tMv9j0O8s6PmP7jGKr7oQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP306329.RAEEwq0d0A0yrj2PCvR7-RQ3tMv9j0O8s6PmP7jGKr7oQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP306329.RAEEwq0d0A0yrj2PCvR7-RQ3tMv9j0O8s6PmP7jGKr7oQ130_assertion
a
np:Assertion
.
dgn-np:NP306329.RAEEwq0d0A0yrj2PCvR7-RQ3tMv9j0O8s6PmP7jGKr7oQ130_provenance
a
np:Provenance
.
dgn-np:NP306329.RAEEwq0d0A0yrj2PCvR7-RQ3tMv9j0O8s6PmP7jGKr7oQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP306329.RAEEwq0d0A0yrj2PCvR7-RQ3tMv9j0O8s6PmP7jGKr7oQ130_assertion
{
miriam-gene:2581
a
ncit:C16612
.
lld:C0751273
a
ncit:C7057
.
dgn-gda:DGN35bc75a573fb06b60d688145b7c83dc9
sio:SIO_000628
miriam-gene:2581
,
lld:C0751273
;
a
sio:SIO_001121
.
}
dgn-np:NP306329.RAEEwq0d0A0yrj2PCvR7-RQ3tMv9j0O8s6PmP7jGKr7oQ130_provenance
{
dgn-np:NP306329.RAEEwq0d0A0yrj2PCvR7-RQ3tMv9j0O8s6PmP7jGKr7oQ130_assertion
dcterms:description
"[Pathology and analytical biochemistry were qualitatively identical to, but generally much milder than, that seen in the typical infantile globoid cell leukodystrophy (GLD) in man (Krabbe disease) and in several other mammalian species, due to genetic deficiency of lysosomal galactosylceramidase (GALC) (EC 3.2.1.46).]. 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:11371512
;
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:NP306329.RAEEwq0d0A0yrj2PCvR7-RQ3tMv9j0O8s6PmP7jGKr7oQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:56+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" .
}