@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP907588.RAojCiqYBPHEA9oIBhUHr7a9KM4WGAZ3tv_A_Gv6AK1ls
> .
@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:NP907588.RAojCiqYBPHEA9oIBhUHr7a9KM4WGAZ3tv_A_Gv6AK1ls130_head
{
this:
np:hasAssertion
dgn-np:NP907588.RAojCiqYBPHEA9oIBhUHr7a9KM4WGAZ3tv_A_Gv6AK1ls130_assertion
;
np:hasProvenance
dgn-np:NP907588.RAojCiqYBPHEA9oIBhUHr7a9KM4WGAZ3tv_A_Gv6AK1ls130_provenance
;
np:hasPublicationInfo
dgn-np:NP907588.RAojCiqYBPHEA9oIBhUHr7a9KM4WGAZ3tv_A_Gv6AK1ls130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP907588.RAojCiqYBPHEA9oIBhUHr7a9KM4WGAZ3tv_A_Gv6AK1ls130_assertion
a
np:Assertion
.
dgn-np:NP907588.RAojCiqYBPHEA9oIBhUHr7a9KM4WGAZ3tv_A_Gv6AK1ls130_provenance
a
np:Provenance
.
dgn-np:NP907588.RAojCiqYBPHEA9oIBhUHr7a9KM4WGAZ3tv_A_Gv6AK1ls130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP907588.RAojCiqYBPHEA9oIBhUHr7a9KM4WGAZ3tv_A_Gv6AK1ls130_assertion
{
miriam-gene:26353
a
ncit:C16612
.
lld:C1847823
a
ncit:C7057
.
dgn-gda:DGN5478a7cf209420c3294b309481acd393
sio:SIO_000628
miriam-gene:26353
,
lld:C1847823
;
a
sio:SIO_001121
.
}
dgn-np:NP907588.RAojCiqYBPHEA9oIBhUHr7a9KM4WGAZ3tv_A_Gv6AK1ls130_provenance
{
dgn-np:NP907588.RAojCiqYBPHEA9oIBhUHr7a9KM4WGAZ3tv_A_Gv6AK1ls130_assertion
dcterms:description
"[Recently, mutations in both the small heat shock protein 27 (HSP27 or HSPB1) and 22 (HSP22 or HSPB8) genes have been reported to cause autosomal dominant CMT with minimal sensory involvement (CMT 2F/CMT2L) and autosomal dominant distal hereditary motor neuropathy type II (dHMN II).]. 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:18832141
;
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:NP907588.RAojCiqYBPHEA9oIBhUHr7a9KM4WGAZ3tv_A_Gv6AK1ls130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:17+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" .
}