@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP431024.RA_ZlLyMhCim26G3kyuD7BFNA6DxbQMp6FHB8fQ-S9V8s
> .
@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:NP431024.RA_ZlLyMhCim26G3kyuD7BFNA6DxbQMp6FHB8fQ-S9V8s130_head
{
this:
np:hasAssertion
dgn-np:NP431024.RA_ZlLyMhCim26G3kyuD7BFNA6DxbQMp6FHB8fQ-S9V8s130_assertion
;
np:hasProvenance
dgn-np:NP431024.RA_ZlLyMhCim26G3kyuD7BFNA6DxbQMp6FHB8fQ-S9V8s130_provenance
;
np:hasPublicationInfo
dgn-np:NP431024.RA_ZlLyMhCim26G3kyuD7BFNA6DxbQMp6FHB8fQ-S9V8s130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP431024.RA_ZlLyMhCim26G3kyuD7BFNA6DxbQMp6FHB8fQ-S9V8s130_assertion
a
np:Assertion
.
dgn-np:NP431024.RA_ZlLyMhCim26G3kyuD7BFNA6DxbQMp6FHB8fQ-S9V8s130_provenance
a
np:Provenance
.
dgn-np:NP431024.RA_ZlLyMhCim26G3kyuD7BFNA6DxbQMp6FHB8fQ-S9V8s130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP431024.RA_ZlLyMhCim26G3kyuD7BFNA6DxbQMp6FHB8fQ-S9V8s130_assertion
{
miriam-gene:8898
a
ncit:C16612
.
lld:C0598589
a
ncit:C7057
.
dgn-gda:DGN3de2e686368967e7416c46bd5362ff6a
sio:SIO_000628
miriam-gene:8898
,
lld:C0598589
;
a
sio:SIO_001121
.
}
dgn-np:NP431024.RA_ZlLyMhCim26G3kyuD7BFNA6DxbQMp6FHB8fQ-S9V8s130_provenance
{
dgn-np:NP431024.RA_ZlLyMhCim26G3kyuD7BFNA6DxbQMp6FHB8fQ-S9V8s130_assertion
dcterms:description
"[Neuropathologic abnormalities can be sufficiently characteristic to suggest the genetic basis of some hereditary neuropathies such as those associated with mutations in MPZ, GJB1, GDAP1, MTMR2, SH3TC2, PRX, FGD4, and LMNA.]. 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:18957892
;
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:NP431024.RA_ZlLyMhCim26G3kyuD7BFNA6DxbQMp6FHB8fQ-S9V8s130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:15+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" .
}