@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY
> .
@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:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_head
{
this:
np:hasAssertion
dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion
;
np:hasProvenance
dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_provenance
;
np:hasPublicationInfo
dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion
a
np:Assertion
.
dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_provenance
a
np:Provenance
.
dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion
{
miriam-gene:2705
a
ncit:C16612
.
lld:C0031117
a
ncit:C7057
.
dgn-gda:DGN048b3ff146c32d1982aae0769d2bd78b
sio:SIO_000628
miriam-gene:2705
,
lld:C0031117
;
a
sio:SIO_001121
.
}
dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_provenance
{
dgn-np:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_assertion
dcterms:description
"[These findings suggest that some gain of function mutations of GJB1 may be related to CNS symptoms because the patients with GJB1 deletion only had peripheral neuropathy, although other unknown associated factors may contribute to their clinical phenotypes.]. 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:12542510
;
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:NP164588.RAA3rHqALei7KX0PFsbri66erY3sPYQZm6IAn96kdJnTY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:29+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" .
}