@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP311827.RA3mEHcRsA7MBtucpE1uzCDkQR77GgJBsVxJyhILymONo
> .
@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:NP311827.RA3mEHcRsA7MBtucpE1uzCDkQR77GgJBsVxJyhILymONo130_head
{
this:
np:hasAssertion
dgn-np:NP311827.RA3mEHcRsA7MBtucpE1uzCDkQR77GgJBsVxJyhILymONo130_assertion
;
np:hasProvenance
dgn-np:NP311827.RA3mEHcRsA7MBtucpE1uzCDkQR77GgJBsVxJyhILymONo130_provenance
;
np:hasPublicationInfo
dgn-np:NP311827.RA3mEHcRsA7MBtucpE1uzCDkQR77GgJBsVxJyhILymONo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP311827.RA3mEHcRsA7MBtucpE1uzCDkQR77GgJBsVxJyhILymONo130_assertion
a
np:Assertion
.
dgn-np:NP311827.RA3mEHcRsA7MBtucpE1uzCDkQR77GgJBsVxJyhILymONo130_provenance
a
np:Provenance
.
dgn-np:NP311827.RA3mEHcRsA7MBtucpE1uzCDkQR77GgJBsVxJyhILymONo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP311827.RA3mEHcRsA7MBtucpE1uzCDkQR77GgJBsVxJyhILymONo130_assertion
{
miriam-gene:9927
a
ncit:C16612
.
lld:C0524851
a
ncit:C7057
.
dgn-gda:DGN991b97e9d74c600b63edb558effe6fc5
sio:SIO_000628
miriam-gene:9927
,
lld:C0524851
;
a
sio:SIO_001121
.
}
dgn-np:NP311827.RA3mEHcRsA7MBtucpE1uzCDkQR77GgJBsVxJyhILymONo130_provenance
{
dgn-np:NP311827.RA3mEHcRsA7MBtucpE1uzCDkQR77GgJBsVxJyhILymONo130_assertion
dcterms:description
"[The clinical relevance of maintaining a finely tuned balance between mitochondrial fusion and fission processes is underscored by the fact that the pathogenesis of certain hereditary neurodegenerative disorders such as autosomal dominant optic atrophy (ADOA) and Charcot-Marie-Tooth neuropathy type 2A (CMT2A) can now be linked to mutations in genes encoding mediators of mitochondrial fusion.]. 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:16468021
;
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:NP311827.RA3mEHcRsA7MBtucpE1uzCDkQR77GgJBsVxJyhILymONo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:59+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" .
}