@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP633582.RAKihphIeqmggZKpiUInNgWExj-lOmkek2Rr6WS_LzAZk
> .
@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:NP633582.RAKihphIeqmggZKpiUInNgWExj-lOmkek2Rr6WS_LzAZk130_head
{
this:
np:hasAssertion
dgn-np:NP633582.RAKihphIeqmggZKpiUInNgWExj-lOmkek2Rr6WS_LzAZk130_assertion
;
np:hasProvenance
dgn-np:NP633582.RAKihphIeqmggZKpiUInNgWExj-lOmkek2Rr6WS_LzAZk130_provenance
;
np:hasPublicationInfo
dgn-np:NP633582.RAKihphIeqmggZKpiUInNgWExj-lOmkek2Rr6WS_LzAZk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP633582.RAKihphIeqmggZKpiUInNgWExj-lOmkek2Rr6WS_LzAZk130_assertion
a
np:Assertion
.
dgn-np:NP633582.RAKihphIeqmggZKpiUInNgWExj-lOmkek2Rr6WS_LzAZk130_provenance
a
np:Provenance
.
dgn-np:NP633582.RAKihphIeqmggZKpiUInNgWExj-lOmkek2Rr6WS_LzAZk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP633582.RAKihphIeqmggZKpiUInNgWExj-lOmkek2Rr6WS_LzAZk130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C0151313
a
ncit:C7057
.
dgn-gda:DGNeabca3346a20113608d04b9c89937533
sio:SIO_000628
miriam-gene:5376
,
lld:C0151313
;
a
sio:SIO_001121
.
}
dgn-np:NP633582.RAKihphIeqmggZKpiUInNgWExj-lOmkek2Rr6WS_LzAZk130_provenance
{
dgn-np:NP633582.RAKihphIeqmggZKpiUInNgWExj-lOmkek2Rr6WS_LzAZk130_assertion
dcterms:description
"[Hereditary neuropathy with liability to pressure palsies (HNPP) and hereditary motor-sensory neuropathy type IA (HMSN IA) are quite distinct clinical entities recently associated to deletion and duplication, respectively, of the 17p11.2 segment including the gene for peripheral myelin protein 22 (PMP-22).]. 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:7753126
;
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:NP633582.RAKihphIeqmggZKpiUInNgWExj-lOmkek2Rr6WS_LzAZk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:22+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" .
}