@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP869377.RAGWvN5M47ZsuCcNsIc0XD-JDCZtHhKLIrZsEcwzP1z4M
> .
@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:NP869377.RAGWvN5M47ZsuCcNsIc0XD-JDCZtHhKLIrZsEcwzP1z4M130_head
{
this:
np:hasAssertion
dgn-np:NP869377.RAGWvN5M47ZsuCcNsIc0XD-JDCZtHhKLIrZsEcwzP1z4M130_assertion
;
np:hasProvenance
dgn-np:NP869377.RAGWvN5M47ZsuCcNsIc0XD-JDCZtHhKLIrZsEcwzP1z4M130_provenance
;
np:hasPublicationInfo
dgn-np:NP869377.RAGWvN5M47ZsuCcNsIc0XD-JDCZtHhKLIrZsEcwzP1z4M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP869377.RAGWvN5M47ZsuCcNsIc0XD-JDCZtHhKLIrZsEcwzP1z4M130_assertion
a
np:Assertion
.
dgn-np:NP869377.RAGWvN5M47ZsuCcNsIc0XD-JDCZtHhKLIrZsEcwzP1z4M130_provenance
a
np:Provenance
.
dgn-np:NP869377.RAGWvN5M47ZsuCcNsIc0XD-JDCZtHhKLIrZsEcwzP1z4M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP869377.RAGWvN5M47ZsuCcNsIc0XD-JDCZtHhKLIrZsEcwzP1z4M130_assertion
{
miriam-gene:2706
a
ncit:C16612
.
lld:C0013080
a
ncit:C7057
.
dgn-gda:DGN7b0c7fb8a5b07088fd7d8745a1d60f1a
sio:SIO_000628
miriam-gene:2706
,
lld:C0013080
;
a
sio:SIO_001121
.
}
dgn-np:NP869377.RAGWvN5M47ZsuCcNsIc0XD-JDCZtHhKLIrZsEcwzP1z4M130_provenance
{
dgn-np:NP869377.RAGWvN5M47ZsuCcNsIc0XD-JDCZtHhKLIrZsEcwzP1z4M130_assertion
dcterms:description
"[The high prevalence of profound deafness in the village is due to mutations in the Connexin 26 gene, while the relatively high frequency of Down syndrome is not explained by maternal age only.]. 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:20635393
;
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:NP869377.RAGWvN5M47ZsuCcNsIc0XD-JDCZtHhKLIrZsEcwzP1z4M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:51+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" .
}