@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP531000.RA-EtF79WaylDfkoYijR4L3afWK4YQ3t_jGFySI7d1AIg
> .
@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:NP531000.RA-EtF79WaylDfkoYijR4L3afWK4YQ3t_jGFySI7d1AIg130_head
{
this:
np:hasAssertion
dgn-np:NP531000.RA-EtF79WaylDfkoYijR4L3afWK4YQ3t_jGFySI7d1AIg130_assertion
;
np:hasProvenance
dgn-np:NP531000.RA-EtF79WaylDfkoYijR4L3afWK4YQ3t_jGFySI7d1AIg130_provenance
;
np:hasPublicationInfo
dgn-np:NP531000.RA-EtF79WaylDfkoYijR4L3afWK4YQ3t_jGFySI7d1AIg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP531000.RA-EtF79WaylDfkoYijR4L3afWK4YQ3t_jGFySI7d1AIg130_assertion
a
np:Assertion
.
dgn-np:NP531000.RA-EtF79WaylDfkoYijR4L3afWK4YQ3t_jGFySI7d1AIg130_provenance
a
np:Provenance
.
dgn-np:NP531000.RA-EtF79WaylDfkoYijR4L3afWK4YQ3t_jGFySI7d1AIg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP531000.RA-EtF79WaylDfkoYijR4L3afWK4YQ3t_jGFySI7d1AIg130_assertion
{
miriam-gene:5827
a
ncit:C16612
.
lld:C1834304
a
ncit:C7057
.
dgn-gda:DGN2d1559dd93773d92785f7bfcae71f87d
sio:SIO_000628
miriam-gene:5827
,
lld:C1834304
;
a
sio:SIO_001121
.
}
dgn-np:NP531000.RA-EtF79WaylDfkoYijR4L3afWK4YQ3t_jGFySI7d1AIg130_provenance
{
dgn-np:NP531000.RA-EtF79WaylDfkoYijR4L3afWK4YQ3t_jGFySI7d1AIg130_assertion
dcterms:description
"[The presence of tomacula in some patients suggested that HNA might be genetically related to hereditary neuropathy with liability to pressure palsies (HNPP), caused by point mutations in the PMP22 gene or deletion of the region containing this 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:7991107
;
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:NP531000.RA-EtF79WaylDfkoYijR4L3afWK4YQ3t_jGFySI7d1AIg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:20+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" .
}