@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP418842.RA3UYChcei9kSAPJ1uEz1EyINfNUVWD2MC0G3xH97_8Kw
> .
@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:NP418842.RA3UYChcei9kSAPJ1uEz1EyINfNUVWD2MC0G3xH97_8Kw130_head
{
this:
np:hasAssertion
dgn-np:NP418842.RA3UYChcei9kSAPJ1uEz1EyINfNUVWD2MC0G3xH97_8Kw130_assertion
;
np:hasProvenance
dgn-np:NP418842.RA3UYChcei9kSAPJ1uEz1EyINfNUVWD2MC0G3xH97_8Kw130_provenance
;
np:hasPublicationInfo
dgn-np:NP418842.RA3UYChcei9kSAPJ1uEz1EyINfNUVWD2MC0G3xH97_8Kw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP418842.RA3UYChcei9kSAPJ1uEz1EyINfNUVWD2MC0G3xH97_8Kw130_assertion
a
np:Assertion
.
dgn-np:NP418842.RA3UYChcei9kSAPJ1uEz1EyINfNUVWD2MC0G3xH97_8Kw130_provenance
a
np:Provenance
.
dgn-np:NP418842.RA3UYChcei9kSAPJ1uEz1EyINfNUVWD2MC0G3xH97_8Kw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP418842.RA3UYChcei9kSAPJ1uEz1EyINfNUVWD2MC0G3xH97_8Kw130_assertion
{
miriam-gene:7393
a
ncit:C16612
.
lld:C0011053
a
ncit:C7057
.
dgn-gda:DGNbcb69acd4594531c75539fe3df5da1ac
sio:SIO_000628
miriam-gene:7393
,
lld:C0011053
;
a
sio:SIO_001121
.
}
dgn-np:NP418842.RA3UYChcei9kSAPJ1uEz1EyINfNUVWD2MC0G3xH97_8Kw130_provenance
{
dgn-np:NP418842.RA3UYChcei9kSAPJ1uEz1EyINfNUVWD2MC0G3xH97_8Kw130_assertion
dcterms:description
"[Three clinical types of Usher syndrome have been described: USH1 patients have severe to profound congenital hearing loss, vestibular dysfunction, and retinal degeneration beginning in childhood, those with USH2 have moderate to severe congenital hearing loss, normal vestibular function, and later onset of retinitis pigmentosa, and USH3 patients have progressive hearing loss, which distinguishes them from the other two types.]. 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:15368488
;
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:NP418842.RA3UYChcei9kSAPJ1uEz1EyINfNUVWD2MC0G3xH97_8Kw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:08+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" .
}