@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP306007.RAMmrqkm5_LjQHNMGz0SGjbntzULybqAxJ-wb5BTB3-xQ
> .
@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:NP306007.RAMmrqkm5_LjQHNMGz0SGjbntzULybqAxJ-wb5BTB3-xQ130_head
{
this:
np:hasAssertion
dgn-np:NP306007.RAMmrqkm5_LjQHNMGz0SGjbntzULybqAxJ-wb5BTB3-xQ130_assertion
;
np:hasProvenance
dgn-np:NP306007.RAMmrqkm5_LjQHNMGz0SGjbntzULybqAxJ-wb5BTB3-xQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP306007.RAMmrqkm5_LjQHNMGz0SGjbntzULybqAxJ-wb5BTB3-xQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP306007.RAMmrqkm5_LjQHNMGz0SGjbntzULybqAxJ-wb5BTB3-xQ130_assertion
a
np:Assertion
.
dgn-np:NP306007.RAMmrqkm5_LjQHNMGz0SGjbntzULybqAxJ-wb5BTB3-xQ130_provenance
a
np:Provenance
.
dgn-np:NP306007.RAMmrqkm5_LjQHNMGz0SGjbntzULybqAxJ-wb5BTB3-xQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP306007.RAMmrqkm5_LjQHNMGz0SGjbntzULybqAxJ-wb5BTB3-xQ130_assertion
{
miriam-gene:127534
a
ncit:C16612
.
lld:C0037274
a
ncit:C7057
.
dgn-gda:DGN9a4647ed169c63be804e5512c9215c0c
sio:SIO_000628
miriam-gene:127534
,
lld:C0037274
;
a
sio:SIO_001121
.
}
dgn-np:NP306007.RAMmrqkm5_LjQHNMGz0SGjbntzULybqAxJ-wb5BTB3-xQ130_provenance
{
dgn-np:NP306007.RAMmrqkm5_LjQHNMGz0SGjbntzULybqAxJ-wb5BTB3-xQ130_assertion
dcterms:description
"[It has been demonstrated that distinct germline mutations within six connexin (Cx) genes GJB2 (Cx26), GJB6 (Cx30), GJB3 (Cx31), GJA1 (Cx43), GJB4 (Cx30.3), and GJB5 (Cx31.1), may cause sensorineural hearing loss and various skin disease 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:19283857
;
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:NP306007.RAMmrqkm5_LjQHNMGz0SGjbntzULybqAxJ-wb5BTB3-xQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:55+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" .
}