@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP300241.RAF9FV5KC6BmlsEsHTZwV7h0ibC9MrScIp2QLB91gjQlw
> .
@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:NP300241.RAF9FV5KC6BmlsEsHTZwV7h0ibC9MrScIp2QLB91gjQlw130_head
{
this:
np:hasAssertion
dgn-np:NP300241.RAF9FV5KC6BmlsEsHTZwV7h0ibC9MrScIp2QLB91gjQlw130_assertion
;
np:hasProvenance
dgn-np:NP300241.RAF9FV5KC6BmlsEsHTZwV7h0ibC9MrScIp2QLB91gjQlw130_provenance
;
np:hasPublicationInfo
dgn-np:NP300241.RAF9FV5KC6BmlsEsHTZwV7h0ibC9MrScIp2QLB91gjQlw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP300241.RAF9FV5KC6BmlsEsHTZwV7h0ibC9MrScIp2QLB91gjQlw130_assertion
a
np:Assertion
.
dgn-np:NP300241.RAF9FV5KC6BmlsEsHTZwV7h0ibC9MrScIp2QLB91gjQlw130_provenance
a
np:Provenance
.
dgn-np:NP300241.RAF9FV5KC6BmlsEsHTZwV7h0ibC9MrScIp2QLB91gjQlw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP300241.RAF9FV5KC6BmlsEsHTZwV7h0ibC9MrScIp2QLB91gjQlw130_assertion
{
miriam-gene:2581
a
ncit:C16612
.
lld:C0023521
a
ncit:C7057
.
dgn-gda:DGN8eade7382a916736e86c0fda8da9c8a8
sio:SIO_000628
miriam-gene:2581
,
lld:C0023521
;
a
sio:SIO_001121
.
}
dgn-np:NP300241.RAF9FV5KC6BmlsEsHTZwV7h0ibC9MrScIp2QLB91gjQlw130_provenance
{
dgn-np:NP300241.RAF9FV5KC6BmlsEsHTZwV7h0ibC9MrScIp2QLB91gjQlw130_assertion
dcterms:description
"[The cloning of both the human GALC cDNA and the GALC gene opened the way for the identification of mutations causing GLD in humans and animals and the development of novel strategies to treat this severe and fatal disease[3].]. 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:11074371
;
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:NP300241.RAF9FV5KC6BmlsEsHTZwV7h0ibC9MrScIp2QLB91gjQlw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:01+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" .
}