@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP793966.RATBCoGlCQuS6A-Fd_PFSSFU44Le8n9jmnrYTjzuPNOvg
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP793966.RATBCoGlCQuS6A-Fd_PFSSFU44Le8n9jmnrYTjzuPNOvg130_head
{
this:
np:hasAssertion
dgn-np:NP793966.RATBCoGlCQuS6A-Fd_PFSSFU44Le8n9jmnrYTjzuPNOvg130_assertion
;
np:hasProvenance
dgn-np:NP793966.RATBCoGlCQuS6A-Fd_PFSSFU44Le8n9jmnrYTjzuPNOvg130_provenance
;
np:hasPublicationInfo
dgn-np:NP793966.RATBCoGlCQuS6A-Fd_PFSSFU44Le8n9jmnrYTjzuPNOvg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP793966.RATBCoGlCQuS6A-Fd_PFSSFU44Le8n9jmnrYTjzuPNOvg130_assertion
a
np:Assertion
.
dgn-np:NP793966.RATBCoGlCQuS6A-Fd_PFSSFU44Le8n9jmnrYTjzuPNOvg130_provenance
a
np:Provenance
.
dgn-np:NP793966.RATBCoGlCQuS6A-Fd_PFSSFU44Le8n9jmnrYTjzuPNOvg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP793966.RATBCoGlCQuS6A-Fd_PFSSFU44Le8n9jmnrYTjzuPNOvg130_assertion
{
miriam-gene:3315
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGNea920bbe95e5dc79c84f847f9d3007c5
sio:SIO_000628
miriam-gene:3315
,
lld:C0007959
;
a
sio:SIO_001121
.
}
dgn-np:NP793966.RATBCoGlCQuS6A-Fd_PFSSFU44Le8n9jmnrYTjzuPNOvg130_provenance
{
dgn-np:NP793966.RATBCoGlCQuS6A-Fd_PFSSFU44Le8n9jmnrYTjzuPNOvg130_assertion
dcterms:description
"[A number of missense mutations in the two related small heat shock proteins HspB8 (Hsp22) and HspB1 (Hsp27) have been associated with the inherited motor neuron diseases (MND) distal hereditary motor neuropathy and Charcot-Marie-Tooth disease.]. 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:20157854
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP793966.RATBCoGlCQuS6A-Fd_PFSSFU44Le8n9jmnrYTjzuPNOvg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:45+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}