@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP374834.RAaq975LheU9hcn1HRk3FjqjIDN1TWMF6KHpbBAcRCw8c
> .
@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:NP374834.RAaq975LheU9hcn1HRk3FjqjIDN1TWMF6KHpbBAcRCw8c130_head
{
this:
np:hasAssertion
dgn-np:NP374834.RAaq975LheU9hcn1HRk3FjqjIDN1TWMF6KHpbBAcRCw8c130_assertion
;
np:hasProvenance
dgn-np:NP374834.RAaq975LheU9hcn1HRk3FjqjIDN1TWMF6KHpbBAcRCw8c130_provenance
;
np:hasPublicationInfo
dgn-np:NP374834.RAaq975LheU9hcn1HRk3FjqjIDN1TWMF6KHpbBAcRCw8c130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP374834.RAaq975LheU9hcn1HRk3FjqjIDN1TWMF6KHpbBAcRCw8c130_assertion
a
np:Assertion
.
dgn-np:NP374834.RAaq975LheU9hcn1HRk3FjqjIDN1TWMF6KHpbBAcRCw8c130_provenance
a
np:Provenance
.
dgn-np:NP374834.RAaq975LheU9hcn1HRk3FjqjIDN1TWMF6KHpbBAcRCw8c130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP374834.RAaq975LheU9hcn1HRk3FjqjIDN1TWMF6KHpbBAcRCw8c130_assertion
{
miriam-gene:26353
a
ncit:C16612
.
lld:C0235025
a
ncit:C7057
.
dgn-gda:DGN40fca8450db2a9ea5b78b4b9fbe2b5a4
sio:SIO_000628
miriam-gene:26353
,
lld:C0235025
;
a
sio:SIO_001121
.
}
dgn-np:NP374834.RAaq975LheU9hcn1HRk3FjqjIDN1TWMF6KHpbBAcRCw8c130_provenance
{
dgn-np:NP374834.RAaq975LheU9hcn1HRk3FjqjIDN1TWMF6KHpbBAcRCw8c130_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:NP374834.RAaq975LheU9hcn1HRk3FjqjIDN1TWMF6KHpbBAcRCw8c130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:39+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" .
}