@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP554813.RAYIeJyB6H6gJHQO53uo6F5YL3ZyVTxBbutjlqTH1sgEY
> .
@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:NP554813.RAYIeJyB6H6gJHQO53uo6F5YL3ZyVTxBbutjlqTH1sgEY130_head
{
this:
np:hasAssertion
dgn-np:NP554813.RAYIeJyB6H6gJHQO53uo6F5YL3ZyVTxBbutjlqTH1sgEY130_assertion
;
np:hasProvenance
dgn-np:NP554813.RAYIeJyB6H6gJHQO53uo6F5YL3ZyVTxBbutjlqTH1sgEY130_provenance
;
np:hasPublicationInfo
dgn-np:NP554813.RAYIeJyB6H6gJHQO53uo6F5YL3ZyVTxBbutjlqTH1sgEY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP554813.RAYIeJyB6H6gJHQO53uo6F5YL3ZyVTxBbutjlqTH1sgEY130_assertion
a
np:Assertion
.
dgn-np:NP554813.RAYIeJyB6H6gJHQO53uo6F5YL3ZyVTxBbutjlqTH1sgEY130_provenance
a
np:Provenance
.
dgn-np:NP554813.RAYIeJyB6H6gJHQO53uo6F5YL3ZyVTxBbutjlqTH1sgEY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP554813.RAYIeJyB6H6gJHQO53uo6F5YL3ZyVTxBbutjlqTH1sgEY130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C0026846
a
ncit:C7057
.
dgn-gda:DGN34359f9ea89e080519d5ecd1f9924fcb
sio:SIO_000628
miriam-gene:5376
,
lld:C0026846
;
a
sio:SIO_001121
.
}
dgn-np:NP554813.RAYIeJyB6H6gJHQO53uo6F5YL3ZyVTxBbutjlqTH1sgEY130_provenance
{
dgn-np:NP554813.RAYIeJyB6H6gJHQO53uo6F5YL3ZyVTxBbutjlqTH1sgEY130_assertion
dcterms:description
"[Transgenic models with extra copies of the Pmp22 gene have provided formal proof that overexpression of only this candidate gene is sufficent to cause peripheral demyelination, onion bulb formation, secondary axonal loss, and progressive muscle atrophy, the pathological hallmarks of CMT1A.]. 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:16775377
;
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:NP554813.RAYIeJyB6H6gJHQO53uo6F5YL3ZyVTxBbutjlqTH1sgEY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:56+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" .
}