@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP224224.RAxs6lqnJnpJ7a_7AjPQDo_HT-mcE9aPAYW3ebo3Bkwec
> .
@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:NP224224.RAxs6lqnJnpJ7a_7AjPQDo_HT-mcE9aPAYW3ebo3Bkwec130_head
{
this:
np:hasAssertion
dgn-np:NP224224.RAxs6lqnJnpJ7a_7AjPQDo_HT-mcE9aPAYW3ebo3Bkwec130_assertion
;
np:hasProvenance
dgn-np:NP224224.RAxs6lqnJnpJ7a_7AjPQDo_HT-mcE9aPAYW3ebo3Bkwec130_provenance
;
np:hasPublicationInfo
dgn-np:NP224224.RAxs6lqnJnpJ7a_7AjPQDo_HT-mcE9aPAYW3ebo3Bkwec130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP224224.RAxs6lqnJnpJ7a_7AjPQDo_HT-mcE9aPAYW3ebo3Bkwec130_assertion
a
np:Assertion
.
dgn-np:NP224224.RAxs6lqnJnpJ7a_7AjPQDo_HT-mcE9aPAYW3ebo3Bkwec130_provenance
a
np:Provenance
.
dgn-np:NP224224.RAxs6lqnJnpJ7a_7AjPQDo_HT-mcE9aPAYW3ebo3Bkwec130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP224224.RAxs6lqnJnpJ7a_7AjPQDo_HT-mcE9aPAYW3ebo3Bkwec130_assertion
{
miriam-gene:3425
a
ncit:C16612
.
lld:C0022521
a
ncit:C7057
.
dgn-gda:DGN4c161a6dd80d096d935e603bc1918dbe
sio:SIO_000628
miriam-gene:3425
,
lld:C0022521
;
a
sio:SIO_001121
.
}
dgn-np:NP224224.RAxs6lqnJnpJ7a_7AjPQDo_HT-mcE9aPAYW3ebo3Bkwec130_provenance
{
dgn-np:NP224224.RAxs6lqnJnpJ7a_7AjPQDo_HT-mcE9aPAYW3ebo3Bkwec130_assertion
dcterms:description
"[Together, these findings highlight the key role of CCDC39 and CCDC40 in PCD with axonemal disorganization and IDA loss, and these genes represent major candidates for genetic testing in families affected by this ciliary phenotype.]. 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:23255504
;
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:NP224224.RAxs6lqnJnpJ7a_7AjPQDo_HT-mcE9aPAYW3ebo3Bkwec130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:04+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" .
}