@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP923225.RAkj8KzznTnRKjiIGOpJwTBvKQGVCGdqOfm-a8RsG0Nkc
> .
@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:NP923225.RAkj8KzznTnRKjiIGOpJwTBvKQGVCGdqOfm-a8RsG0Nkc130_head
{
this:
np:hasAssertion
dgn-np:NP923225.RAkj8KzznTnRKjiIGOpJwTBvKQGVCGdqOfm-a8RsG0Nkc130_assertion
;
np:hasProvenance
dgn-np:NP923225.RAkj8KzznTnRKjiIGOpJwTBvKQGVCGdqOfm-a8RsG0Nkc130_provenance
;
np:hasPublicationInfo
dgn-np:NP923225.RAkj8KzznTnRKjiIGOpJwTBvKQGVCGdqOfm-a8RsG0Nkc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP923225.RAkj8KzznTnRKjiIGOpJwTBvKQGVCGdqOfm-a8RsG0Nkc130_assertion
a
np:Assertion
.
dgn-np:NP923225.RAkj8KzznTnRKjiIGOpJwTBvKQGVCGdqOfm-a8RsG0Nkc130_provenance
a
np:Provenance
.
dgn-np:NP923225.RAkj8KzznTnRKjiIGOpJwTBvKQGVCGdqOfm-a8RsG0Nkc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP923225.RAkj8KzznTnRKjiIGOpJwTBvKQGVCGdqOfm-a8RsG0Nkc130_assertion
{
miriam-gene:64072
a
ncit:C16612
.
lld:C0018784
a
ncit:C7057
.
dgn-gda:DGNf997c1a09005c7990e4b8346c630e761
sio:SIO_000628
miriam-gene:64072
,
lld:C0018784
;
a
sio:SIO_001121
.
}
dgn-np:NP923225.RAkj8KzznTnRKjiIGOpJwTBvKQGVCGdqOfm-a8RsG0Nkc130_provenance
{
dgn-np:NP923225.RAkj8KzznTnRKjiIGOpJwTBvKQGVCGdqOfm-a8RsG0Nkc130_assertion
dcterms:description
"[Mutations in the human cadherin 23 (CDH23) gene cause deafness, neurosensory, autosomal recessive 12 (DFNB12) nonsyndromic hearing loss or Usher syndrome, type 1D (characterized by hearing impairment, vestibular dysfunction, and visual impairment).]. 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:21689626
;
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:NP923225.RAkj8KzznTnRKjiIGOpJwTBvKQGVCGdqOfm-a8RsG0Nkc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:26+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" .
}