@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP836507.RAJ21jrzQs8haxEDPrHYbBR31S1mPliVKrUjaD86ozdBk
> .
@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:NP836507.RAJ21jrzQs8haxEDPrHYbBR31S1mPliVKrUjaD86ozdBk130_head
{
this:
np:hasAssertion
dgn-np:NP836507.RAJ21jrzQs8haxEDPrHYbBR31S1mPliVKrUjaD86ozdBk130_assertion
;
np:hasProvenance
dgn-np:NP836507.RAJ21jrzQs8haxEDPrHYbBR31S1mPliVKrUjaD86ozdBk130_provenance
;
np:hasPublicationInfo
dgn-np:NP836507.RAJ21jrzQs8haxEDPrHYbBR31S1mPliVKrUjaD86ozdBk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP836507.RAJ21jrzQs8haxEDPrHYbBR31S1mPliVKrUjaD86ozdBk130_assertion
a
np:Assertion
.
dgn-np:NP836507.RAJ21jrzQs8haxEDPrHYbBR31S1mPliVKrUjaD86ozdBk130_provenance
a
np:Provenance
.
dgn-np:NP836507.RAJ21jrzQs8haxEDPrHYbBR31S1mPliVKrUjaD86ozdBk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP836507.RAJ21jrzQs8haxEDPrHYbBR31S1mPliVKrUjaD86ozdBk130_assertion
{
miriam-gene:142683
a
ncit:C16612
.
lld:C0011053
a
ncit:C7057
.
dgn-gda:DGN9b4d86d8e58e7f325873faf6faf10501
sio:SIO_000628
miriam-gene:142683
,
lld:C0011053
;
a
sio:SIO_001121
.
}
dgn-np:NP836507.RAJ21jrzQs8haxEDPrHYbBR31S1mPliVKrUjaD86ozdBk130_provenance
{
dgn-np:NP836507.RAJ21jrzQs8haxEDPrHYbBR31S1mPliVKrUjaD86ozdBk130_assertion
dcterms:description
"[The degree of low- and mid-frequency hearing loss in HL2 family members segregating the MYO7A mutation varies from mild to more severe, with approximately the same number of HL2 family members falling at each end of the severity spectrum.]. 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:18667942
;
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:NP836507.RAJ21jrzQs8haxEDPrHYbBR31S1mPliVKrUjaD86ozdBk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:31+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" .
}