@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU
> .
@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:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_head
{
this:
np:hasAssertion
dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_assertion
;
np:hasProvenance
dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_provenance
;
np:hasPublicationInfo
dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_assertion
a
np:Assertion
.
dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_provenance
a
np:Provenance
.
dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_assertion
{
miriam-gene:4287
a
ncit:C16612
.
lld:C0024408
a
ncit:C7057
.
dgn-gda:DGN11a0a1d291b934cc7741aaa6e321b694
sio:SIO_000628
miriam-gene:4287
,
lld:C0024408
;
a
sio:SIO_001121
.
}
dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_provenance
{
dgn-np:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_assertion
dcterms:description
"[An unstable CAG trinucleotide repeat expansion in MJD gene on long arm of chromosome 14 has been identified as the pathologic mutation of MJD and apoptosis was previously shown to be responsible for the neuronal cell death of the disease.]. 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:15504352
;
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:NP466049.RAEUI11rpTSPq8nN1W2ZWbNC13Rd8BwfVyWdXxbGPgFBU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:16+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" .
}