@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP687214.RAUB1da344eyOIDIGVpU_43xTwoU5QHFik2kwZa3tVVIo
> .
@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:NP687214.RAUB1da344eyOIDIGVpU_43xTwoU5QHFik2kwZa3tVVIo130_head
{
this:
np:hasAssertion
dgn-np:NP687214.RAUB1da344eyOIDIGVpU_43xTwoU5QHFik2kwZa3tVVIo130_assertion
;
np:hasProvenance
dgn-np:NP687214.RAUB1da344eyOIDIGVpU_43xTwoU5QHFik2kwZa3tVVIo130_provenance
;
np:hasPublicationInfo
dgn-np:NP687214.RAUB1da344eyOIDIGVpU_43xTwoU5QHFik2kwZa3tVVIo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP687214.RAUB1da344eyOIDIGVpU_43xTwoU5QHFik2kwZa3tVVIo130_assertion
a
np:Assertion
.
dgn-np:NP687214.RAUB1da344eyOIDIGVpU_43xTwoU5QHFik2kwZa3tVVIo130_provenance
a
np:Provenance
.
dgn-np:NP687214.RAUB1da344eyOIDIGVpU_43xTwoU5QHFik2kwZa3tVVIo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP687214.RAUB1da344eyOIDIGVpU_43xTwoU5QHFik2kwZa3tVVIo130_assertion
{
miriam-gene:9241
a
ncit:C16612
.
lld:C0020490
a
ncit:C7057
.
dgn-gda:DGN1512dc4462c4bf9f5d939fde000d1d11
sio:SIO_000628
miriam-gene:9241
,
lld:C0020490
;
a
sio:SIO_001121
.
}
dgn-np:NP687214.RAUB1da344eyOIDIGVpU_43xTwoU5QHFik2kwZa3tVVIo130_provenance
{
dgn-np:NP687214.RAUB1da344eyOIDIGVpU_43xTwoU5QHFik2kwZa3tVVIo130_assertion
dcterms:description
"[Haploinsufficiency of NOG gene has been implicated in the development of conductive hearing loss, skeletal anomalies including symphalangism, contractures of joints, and hyperopia in our patient and may also contribute to the development of tracheo-esophageal fistula and/or esophageal atresia.]. 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:18983945
;
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:NP687214.RAUB1da344eyOIDIGVpU_43xTwoU5QHFik2kwZa3tVVIo130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:57+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" .
}