@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP2192.RA7aXSONJxOg5Tqm6Kie_lxu4hCXp4WkeMcJtXZgEmB4A
> .
@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 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:NP2192.RA7aXSONJxOg5Tqm6Kie_lxu4hCXp4WkeMcJtXZgEmB4A130_head
{
this:
np:hasAssertion
dgn-np:NP2192.RA7aXSONJxOg5Tqm6Kie_lxu4hCXp4WkeMcJtXZgEmB4A130_assertion
;
np:hasProvenance
dgn-np:NP2192.RA7aXSONJxOg5Tqm6Kie_lxu4hCXp4WkeMcJtXZgEmB4A130_provenance
;
np:hasPublicationInfo
dgn-np:NP2192.RA7aXSONJxOg5Tqm6Kie_lxu4hCXp4WkeMcJtXZgEmB4A130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP2192.RA7aXSONJxOg5Tqm6Kie_lxu4hCXp4WkeMcJtXZgEmB4A130_assertion
a
np:Assertion
.
dgn-np:NP2192.RA7aXSONJxOg5Tqm6Kie_lxu4hCXp4WkeMcJtXZgEmB4A130_provenance
a
np:Provenance
.
dgn-np:NP2192.RA7aXSONJxOg5Tqm6Kie_lxu4hCXp4WkeMcJtXZgEmB4A130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP2192.RA7aXSONJxOg5Tqm6Kie_lxu4hCXp4WkeMcJtXZgEmB4A130_assertion
{
miriam-gene:7466
a
ncit:C16612
.
lld:C1833021
a
ncit:C7057
.
dgn-gda:DGN7551815db128c366d9c251727aed19b6
sio:SIO_000628
miriam-gene:7466
,
lld:C1833021
;
a
sio:SIO_001122
.
}
dgn-np:NP2192.RA7aXSONJxOg5Tqm6Kie_lxu4hCXp4WkeMcJtXZgEmB4A130_provenance
{
dgn-np:NP2192.RA7aXSONJxOg5Tqm6Kie_lxu4hCXp4WkeMcJtXZgEmB4A130_assertion
dcterms:description
"[An LFSNHL locus has recently been assigned to chromosome 4p16, and mutations in WFS1, the causative gene for Wolfram syndrome, have been found to cause LFSNHL in families with DFNA6, DFNA14, or DFNA38.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:12181639
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP2192.RA7aXSONJxOg5Tqm6Kie_lxu4hCXp4WkeMcJtXZgEmB4A130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:51+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" .
}