@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP758099.RAz9fDCx0e8pi6aId91BzwnA0Vf0NMAJjpqR5rBJ_oDYo
> .
@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:NP758099.RAz9fDCx0e8pi6aId91BzwnA0Vf0NMAJjpqR5rBJ_oDYo130_head
{
this:
np:hasAssertion
dgn-np:NP758099.RAz9fDCx0e8pi6aId91BzwnA0Vf0NMAJjpqR5rBJ_oDYo130_assertion
;
np:hasProvenance
dgn-np:NP758099.RAz9fDCx0e8pi6aId91BzwnA0Vf0NMAJjpqR5rBJ_oDYo130_provenance
;
np:hasPublicationInfo
dgn-np:NP758099.RAz9fDCx0e8pi6aId91BzwnA0Vf0NMAJjpqR5rBJ_oDYo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP758099.RAz9fDCx0e8pi6aId91BzwnA0Vf0NMAJjpqR5rBJ_oDYo130_assertion
a
np:Assertion
.
dgn-np:NP758099.RAz9fDCx0e8pi6aId91BzwnA0Vf0NMAJjpqR5rBJ_oDYo130_provenance
a
np:Provenance
.
dgn-np:NP758099.RAz9fDCx0e8pi6aId91BzwnA0Vf0NMAJjpqR5rBJ_oDYo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP758099.RAz9fDCx0e8pi6aId91BzwnA0Vf0NMAJjpqR5rBJ_oDYo130_assertion
{
miriam-gene:85300
a
ncit:C16612
.
lld:C0025362
a
ncit:C7057
.
dgn-gda:DGNc12c33f5f9c35bd4334124aa251dfb8f
sio:SIO_000628
miriam-gene:85300
,
lld:C0025362
;
a
sio:SIO_001121
.
}
dgn-np:NP758099.RAz9fDCx0e8pi6aId91BzwnA0Vf0NMAJjpqR5rBJ_oDYo130_provenance
{
dgn-np:NP758099.RAz9fDCx0e8pi6aId91BzwnA0Vf0NMAJjpqR5rBJ_oDYo130_assertion
dcterms:description
"[Mutation of the gene encoding Caytaxin causes human Cayman ataxia by interfering with normal splicing and, in mutant rodents, by reducing normal transcription, which leads to ataxia, dystonia, and mental retardation: These observations suggest that Caytaxin may be crucial for higher brain functions such as motor learning.]. 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:17157273
;
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:NP758099.RAz9fDCx0e8pi6aId91BzwnA0Vf0NMAJjpqR5rBJ_oDYo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:39+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" .
}