@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP727430.RA_F2t86ieH9K7N2W1BcxPfgXbMFEg8jtU9yDnGNnfP2w
> .
@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:NP727430.RA_F2t86ieH9K7N2W1BcxPfgXbMFEg8jtU9yDnGNnfP2w130_head
{
this:
np:hasAssertion
dgn-np:NP727430.RA_F2t86ieH9K7N2W1BcxPfgXbMFEg8jtU9yDnGNnfP2w130_assertion
;
np:hasProvenance
dgn-np:NP727430.RA_F2t86ieH9K7N2W1BcxPfgXbMFEg8jtU9yDnGNnfP2w130_provenance
;
np:hasPublicationInfo
dgn-np:NP727430.RA_F2t86ieH9K7N2W1BcxPfgXbMFEg8jtU9yDnGNnfP2w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP727430.RA_F2t86ieH9K7N2W1BcxPfgXbMFEg8jtU9yDnGNnfP2w130_assertion
a
np:Assertion
.
dgn-np:NP727430.RA_F2t86ieH9K7N2W1BcxPfgXbMFEg8jtU9yDnGNnfP2w130_provenance
a
np:Provenance
.
dgn-np:NP727430.RA_F2t86ieH9K7N2W1BcxPfgXbMFEg8jtU9yDnGNnfP2w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP727430.RA_F2t86ieH9K7N2W1BcxPfgXbMFEg8jtU9yDnGNnfP2w130_assertion
{
miriam-gene:1621
a
ncit:C16612
.
lld:C1275808
a
ncit:C7057
.
dgn-gda:DGNcec66aee150a1b4a9a99ebf9e4851349
sio:SIO_000628
miriam-gene:1621
,
lld:C1275808
;
a
sio:SIO_001121
.
}
dgn-np:NP727430.RA_F2t86ieH9K7N2W1BcxPfgXbMFEg8jtU9yDnGNnfP2w130_provenance
{
dgn-np:NP727430.RA_F2t86ieH9K7N2W1BcxPfgXbMFEg8jtU9yDnGNnfP2w130_assertion
dcterms:description
"[We have already shown that the severity of the CCHS phenotype correlates with the length of polyAla expansions, ultimately leading to formation of toxic intracytoplasmic aggregates and impaired PHOX2B mediated transactivation of target gene promoters, such as DBH.]. 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:21964250
;
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:NP727430.RA_F2t86ieH9K7N2W1BcxPfgXbMFEg8jtU9yDnGNnfP2w130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:21+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" .
}