@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP778779.RAAN7S1eVjTwfm8UMtuur4RS2RHtvQFK10SV3luyBZ3oM
> .
@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/v3.0.0/void/
> .
dgn-np:NP778779.RAAN7S1eVjTwfm8UMtuur4RS2RHtvQFK10SV3luyBZ3oM130_head
{
this:
np:hasAssertion
dgn-np:NP778779.RAAN7S1eVjTwfm8UMtuur4RS2RHtvQFK10SV3luyBZ3oM130_assertion
;
np:hasProvenance
dgn-np:NP778779.RAAN7S1eVjTwfm8UMtuur4RS2RHtvQFK10SV3luyBZ3oM130_provenance
;
np:hasPublicationInfo
dgn-np:NP778779.RAAN7S1eVjTwfm8UMtuur4RS2RHtvQFK10SV3luyBZ3oM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP778779.RAAN7S1eVjTwfm8UMtuur4RS2RHtvQFK10SV3luyBZ3oM130_assertion
a
np:Assertion
.
dgn-np:NP778779.RAAN7S1eVjTwfm8UMtuur4RS2RHtvQFK10SV3luyBZ3oM130_provenance
a
np:Provenance
.
dgn-np:NP778779.RAAN7S1eVjTwfm8UMtuur4RS2RHtvQFK10SV3luyBZ3oM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP778779.RAAN7S1eVjTwfm8UMtuur4RS2RHtvQFK10SV3luyBZ3oM130_assertion
{
miriam-gene:7495
a
ncit:C16612
.
lld:C0002736
a
ncit:C7057
.
dgn-gda:DGN2a7e417954f356d225b1e02bcf7f4453
sio:SIO_000628
miriam-gene:7495
,
lld:C0002736
;
a
sio:SIO_001122
.
}
dgn-np:NP778779.RAAN7S1eVjTwfm8UMtuur4RS2RHtvQFK10SV3luyBZ3oM130_provenance
{
dgn-np:NP778779.RAAN7S1eVjTwfm8UMtuur4RS2RHtvQFK10SV3luyBZ3oM130_assertion
dcterms:description
"[Firstly, the mutation P56S in the VAPB is seen to increase the stability of the protein and secondly, the mutation P56S in VAPB is seen to interrupt the functioning of the gene and loses its ability to be involved in the activation of the IRE1/XBP1 pathway which leads to ALS.]. 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:24681403
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP778779.RAAN7S1eVjTwfm8UMtuur4RS2RHtvQFK10SV3luyBZ3oM130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:31+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}