@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP5059.RA07lqVXqGJrTWzcVdEc4NwyIvQlnp-9gJnUvqHILkzsg
> .
@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:NP5059.RA07lqVXqGJrTWzcVdEc4NwyIvQlnp-9gJnUvqHILkzsg130_head
{
this:
np:hasAssertion
dgn-np:NP5059.RA07lqVXqGJrTWzcVdEc4NwyIvQlnp-9gJnUvqHILkzsg130_assertion
;
np:hasProvenance
dgn-np:NP5059.RA07lqVXqGJrTWzcVdEc4NwyIvQlnp-9gJnUvqHILkzsg130_provenance
;
np:hasPublicationInfo
dgn-np:NP5059.RA07lqVXqGJrTWzcVdEc4NwyIvQlnp-9gJnUvqHILkzsg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP5059.RA07lqVXqGJrTWzcVdEc4NwyIvQlnp-9gJnUvqHILkzsg130_assertion
a
np:Assertion
.
dgn-np:NP5059.RA07lqVXqGJrTWzcVdEc4NwyIvQlnp-9gJnUvqHILkzsg130_provenance
a
np:Provenance
.
dgn-np:NP5059.RA07lqVXqGJrTWzcVdEc4NwyIvQlnp-9gJnUvqHILkzsg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP5059.RA07lqVXqGJrTWzcVdEc4NwyIvQlnp-9gJnUvqHILkzsg130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C0011195
a
ncit:C7057
.
dgn-gda:DGN575272426e8c43176a247823eb880c25
sio:SIO_000628
miriam-gene:5376
,
lld:C0011195
;
a
sio:SIO_001122
.
}
dgn-np:NP5059.RA07lqVXqGJrTWzcVdEc4NwyIvQlnp-9gJnUvqHILkzsg130_provenance
{
dgn-np:NP5059.RA07lqVXqGJrTWzcVdEc4NwyIvQlnp-9gJnUvqHILkzsg130_assertion
dcterms:description
"[Point mutations in the coding region of the myelin genes, peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ) or connexin 32 (Cx32) have been reported in CMT patients, including CMT type 1 (CMT1), CMT type 2 (CMT2) and Djrine-Sottas neuropathy (DS) patients, and only in the coding region of PMP22 in HNPP families lacking a deletion.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:9187667
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP5059.RA07lqVXqGJrTWzcVdEc4NwyIvQlnp-9gJnUvqHILkzsg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:00+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" .
}