@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP424738.RAhqwqiiTOdIoyQy3B_OLuoTDUgwY0WoPTxS2lB84SPIQ
> .
@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:NP424738.RAhqwqiiTOdIoyQy3B_OLuoTDUgwY0WoPTxS2lB84SPIQ130_head
{
this:
np:hasAssertion
dgn-np:NP424738.RAhqwqiiTOdIoyQy3B_OLuoTDUgwY0WoPTxS2lB84SPIQ130_assertion
;
np:hasProvenance
dgn-np:NP424738.RAhqwqiiTOdIoyQy3B_OLuoTDUgwY0WoPTxS2lB84SPIQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP424738.RAhqwqiiTOdIoyQy3B_OLuoTDUgwY0WoPTxS2lB84SPIQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP424738.RAhqwqiiTOdIoyQy3B_OLuoTDUgwY0WoPTxS2lB84SPIQ130_assertion
a
np:Assertion
.
dgn-np:NP424738.RAhqwqiiTOdIoyQy3B_OLuoTDUgwY0WoPTxS2lB84SPIQ130_provenance
a
np:Provenance
.
dgn-np:NP424738.RAhqwqiiTOdIoyQy3B_OLuoTDUgwY0WoPTxS2lB84SPIQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP424738.RAhqwqiiTOdIoyQy3B_OLuoTDUgwY0WoPTxS2lB84SPIQ130_assertion
{
miriam-gene:26353
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGNb3594e89ff2f3aed6c41c3cee5f26a6c
sio:SIO_000628
miriam-gene:26353
,
lld:C0007959
;
a
sio:SIO_001121
.
}
dgn-np:NP424738.RAhqwqiiTOdIoyQy3B_OLuoTDUgwY0WoPTxS2lB84SPIQ130_provenance
{
dgn-np:NP424738.RAhqwqiiTOdIoyQy3B_OLuoTDUgwY0WoPTxS2lB84SPIQ130_assertion
dcterms:description
"[Two mutations (K141E, K141N) in the small heat shock protein (sHSP) HSP22 (HSPB8) are associated with the inherited peripheral motor neuron disorders distal hereditary motor neuropathy type II and axonal Charcot-Marie-Tooth disease type 2L.]. 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:16935933
;
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:NP424738.RAhqwqiiTOdIoyQy3B_OLuoTDUgwY0WoPTxS2lB84SPIQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:12+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" .
}