@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP403517.RA-EV34O5Xju2lvNUqiIDpL3H91NieGJFt3uUsuqLX5P8
> .
@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:NP403517.RA-EV34O5Xju2lvNUqiIDpL3H91NieGJFt3uUsuqLX5P8130_head
{
this:
np:hasAssertion
dgn-np:NP403517.RA-EV34O5Xju2lvNUqiIDpL3H91NieGJFt3uUsuqLX5P8130_assertion
;
np:hasProvenance
dgn-np:NP403517.RA-EV34O5Xju2lvNUqiIDpL3H91NieGJFt3uUsuqLX5P8130_provenance
;
np:hasPublicationInfo
dgn-np:NP403517.RA-EV34O5Xju2lvNUqiIDpL3H91NieGJFt3uUsuqLX5P8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP403517.RA-EV34O5Xju2lvNUqiIDpL3H91NieGJFt3uUsuqLX5P8130_assertion
a
np:Assertion
.
dgn-np:NP403517.RA-EV34O5Xju2lvNUqiIDpL3H91NieGJFt3uUsuqLX5P8130_provenance
a
np:Provenance
.
dgn-np:NP403517.RA-EV34O5Xju2lvNUqiIDpL3H91NieGJFt3uUsuqLX5P8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP403517.RA-EV34O5Xju2lvNUqiIDpL3H91NieGJFt3uUsuqLX5P8130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGN82c12367a59be69f6bdb23f938d5f28a
sio:SIO_000628
miriam-gene:5376
,
lld:C0007959
;
a
sio:SIO_001121
.
}
dgn-np:NP403517.RA-EV34O5Xju2lvNUqiIDpL3H91NieGJFt3uUsuqLX5P8130_provenance
{
dgn-np:NP403517.RA-EV34O5Xju2lvNUqiIDpL3H91NieGJFt3uUsuqLX5P8130_assertion
dcterms:description
"[Two of the most common inherited peripheral neuropathies, Charcot-Marie-Tooth 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP), are two such diseases resulting from alteration in gene copy number of the dosage sensitive peripheral myelin protein 22 (PMP22) gene.]. 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:12885335
;
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:NP403517.RA-EV34O5Xju2lvNUqiIDpL3H91NieGJFt3uUsuqLX5P8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:48+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" .
}