@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw
> .
@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:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_head
{
this:
np:hasAssertion
dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_assertion
;
np:hasProvenance
dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_provenance
;
np:hasPublicationInfo
dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_assertion
a
np:Assertion
.
dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_provenance
a
np:Provenance
.
dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_assertion
{
miriam-gene:2706
a
ncit:C16612
.
lld:C0155552
a
ncit:C7057
.
dgn-gda:DGN5623b4dec3878fc5efab1459c0f6d022
sio:SIO_000628
miriam-gene:2706
,
lld:C0155552
;
a
sio:SIO_001121
.
}
dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_provenance
{
dgn-np:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_assertion
dcterms:description
"[Mutations in the gene GJB2, encoding the gap junction protein Connexin26 (Cx26), are the most prevalent cause of inherited hearing loss, and Cx26M34T was one of the first mutations linked to deafness (Kelsell et al., 1997; Nature 387, 80-83).]. 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:15033936
;
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:NP436491.RAWvHx8JiNwKUsk09YitkFKG7B5vnJ3xYsUo0hpXI0Udw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:03+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" .
}