@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP526795.RA9u_qBp29p_LJ3-Kggmc1pIHik8Zm4kGZZfiBUr1sREg
> .
@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:NP526795.RA9u_qBp29p_LJ3-Kggmc1pIHik8Zm4kGZZfiBUr1sREg130_head
{
this:
np:hasAssertion
dgn-np:NP526795.RA9u_qBp29p_LJ3-Kggmc1pIHik8Zm4kGZZfiBUr1sREg130_assertion
;
np:hasProvenance
dgn-np:NP526795.RA9u_qBp29p_LJ3-Kggmc1pIHik8Zm4kGZZfiBUr1sREg130_provenance
;
np:hasPublicationInfo
dgn-np:NP526795.RA9u_qBp29p_LJ3-Kggmc1pIHik8Zm4kGZZfiBUr1sREg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP526795.RA9u_qBp29p_LJ3-Kggmc1pIHik8Zm4kGZZfiBUr1sREg130_assertion
a
np:Assertion
.
dgn-np:NP526795.RA9u_qBp29p_LJ3-Kggmc1pIHik8Zm4kGZZfiBUr1sREg130_provenance
a
np:Provenance
.
dgn-np:NP526795.RA9u_qBp29p_LJ3-Kggmc1pIHik8Zm4kGZZfiBUr1sREg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP526795.RA9u_qBp29p_LJ3-Kggmc1pIHik8Zm4kGZZfiBUr1sREg130_assertion
{
miriam-gene:5827
a
ncit:C16612
.
lld:C0031117
a
ncit:C7057
.
dgn-gda:DGN5b41854b50c8f00db238d86e7cb2b73c
sio:SIO_000628
miriam-gene:5827
,
lld:C0031117
;
a
sio:SIO_001121
.
}
dgn-np:NP526795.RA9u_qBp29p_LJ3-Kggmc1pIHik8Zm4kGZZfiBUr1sREg130_provenance
{
dgn-np:NP526795.RA9u_qBp29p_LJ3-Kggmc1pIHik8Zm4kGZZfiBUr1sREg130_assertion
dcterms:description
"[Many myelin gene mutants that cause severe disease, such as those in the myelin protein zero gene (MPZ) and the peripheral myelin protein 22 gene (PMP22), appear to make aberrant proteins that accumulate primarily within the endoplasmic reticulum (ER), resulting in Schwann cell death by apoptosis and, subsequently, peripheral neuropathy.]. 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:17701891
;
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:NP526795.RA9u_qBp29p_LJ3-Kggmc1pIHik8Zm4kGZZfiBUr1sREg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:16+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: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" .
}