@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4
> .
@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:NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_head
{
this:
np:hasAssertion
dgn-np:NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_assertion
;
np:hasProvenance
dgn-np:NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_provenance
;
np:hasPublicationInfo
dgn-np:NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_assertion
a
np:Assertion
.
dgn-np:NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_provenance
a
np:Provenance
.
dgn-np:NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGNf8b2e7fba61c8ddad6dc9c52a6bef663
sio:SIO_000628
miriam-gene:5376
,
lld:C0007959
;
a
sio:SIO_001121
.
}
dgn-np:NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_provenance
{
dgn-np:NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_assertion
dcterms:description
"[Mutations of the peripheral myelin protein-22 (PMP22) gene are the most common cause of inherited disease of the peripheral nervous system (PNS), with its deletion resulting in hereditary neuropathy with liability to pressure palsies (HNPP), and its duplication inducing Charcot-Marie-Tooth 1A (CMT1A) 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:23243264
;
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:NP1036523.RAGZtF0WLH_TFx3BTp1xq--RTs4xva48Ly6mu1vHEHJo4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:35+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" .
}