@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP351056.RAtENyhAQh0LxA8tksytOkV2Bvarg6lIqpUVjrqsGAVjM
> .
@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:NP351056.RAtENyhAQh0LxA8tksytOkV2Bvarg6lIqpUVjrqsGAVjM130_head
{
this:
np:hasAssertion
dgn-np:NP351056.RAtENyhAQh0LxA8tksytOkV2Bvarg6lIqpUVjrqsGAVjM130_assertion
;
np:hasProvenance
dgn-np:NP351056.RAtENyhAQh0LxA8tksytOkV2Bvarg6lIqpUVjrqsGAVjM130_provenance
;
np:hasPublicationInfo
dgn-np:NP351056.RAtENyhAQh0LxA8tksytOkV2Bvarg6lIqpUVjrqsGAVjM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP351056.RAtENyhAQh0LxA8tksytOkV2Bvarg6lIqpUVjrqsGAVjM130_assertion
a
np:Assertion
.
dgn-np:NP351056.RAtENyhAQh0LxA8tksytOkV2Bvarg6lIqpUVjrqsGAVjM130_provenance
a
np:Provenance
.
dgn-np:NP351056.RAtENyhAQh0LxA8tksytOkV2Bvarg6lIqpUVjrqsGAVjM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP351056.RAtENyhAQh0LxA8tksytOkV2Bvarg6lIqpUVjrqsGAVjM130_assertion
{
miriam-gene:2705
a
ncit:C16612
.
lld:C0598589
a
ncit:C7057
.
dgn-gda:DGNdf937f4f425a6f660638c8e786b7705a
sio:SIO_000628
miriam-gene:2705
,
lld:C0598589
;
a
sio:SIO_001121
.
}
dgn-np:NP351056.RAtENyhAQh0LxA8tksytOkV2Bvarg6lIqpUVjrqsGAVjM130_provenance
{
dgn-np:NP351056.RAtENyhAQh0LxA8tksytOkV2Bvarg6lIqpUVjrqsGAVjM130_assertion
dcterms:description
"[Mutations in three genes coding for the myelin proteins peripheral myelin protein 22, myelin protein zero and connexin 32 and in one gene coding for the transcription factor early growth response 2 element are associated with Charcot-Marie-Tooth type 1 and 2, hereditary neuropathy with liability to pressure palsies, Dejerine-Sottas syndrome and congenital hypomyelination.]. 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:10541586
;
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:NP351056.RAtENyhAQh0LxA8tksytOkV2Bvarg6lIqpUVjrqsGAVjM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:26+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" .
}