@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP368827.RA5F5Sueykuzfd8zxukW3IpAZ8S2a3kuk2gClObT1FLKc
> .
@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:NP368827.RA5F5Sueykuzfd8zxukW3IpAZ8S2a3kuk2gClObT1FLKc130_head
{
this:
np:hasAssertion
dgn-np:NP368827.RA5F5Sueykuzfd8zxukW3IpAZ8S2a3kuk2gClObT1FLKc130_assertion
;
np:hasProvenance
dgn-np:NP368827.RA5F5Sueykuzfd8zxukW3IpAZ8S2a3kuk2gClObT1FLKc130_provenance
;
np:hasPublicationInfo
dgn-np:NP368827.RA5F5Sueykuzfd8zxukW3IpAZ8S2a3kuk2gClObT1FLKc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP368827.RA5F5Sueykuzfd8zxukW3IpAZ8S2a3kuk2gClObT1FLKc130_assertion
a
np:Assertion
.
dgn-np:NP368827.RA5F5Sueykuzfd8zxukW3IpAZ8S2a3kuk2gClObT1FLKc130_provenance
a
np:Provenance
.
dgn-np:NP368827.RA5F5Sueykuzfd8zxukW3IpAZ8S2a3kuk2gClObT1FLKc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP368827.RA5F5Sueykuzfd8zxukW3IpAZ8S2a3kuk2gClObT1FLKc130_assertion
{
miriam-gene:9381
a
ncit:C16612
.
lld:C1852271
a
ncit:C7057
.
dgn-gda:DGN434db999592b396e7730d832ee276abb
sio:SIO_000628
miriam-gene:9381
,
lld:C1852271
;
a
sio:SIO_001121
.
}
dgn-np:NP368827.RA5F5Sueykuzfd8zxukW3IpAZ8S2a3kuk2gClObT1FLKc130_provenance
{
dgn-np:NP368827.RA5F5Sueykuzfd8zxukW3IpAZ8S2a3kuk2gClObT1FLKc130_assertion
dcterms:description
"[Exceptions to this include DFNB2 (MYO7A), DFNB8/10 (TMPRSS3) and DFNB16 (STRC) where age of onset may sometimes be later on in childhood, DFNB4 (SLC26A4) where there may be dilated vestibular aqueducts and endolymphatic sacs, and DFNB9 (OTOF) where there may also be an associated auditory neuropathy.]. 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:12324385
;
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:NP368827.RA5F5Sueykuzfd8zxukW3IpAZ8S2a3kuk2gClObT1FLKc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:32+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" .
}