@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP764786.RACrfC8pTgpHyEtU2F2pxsP9gEAy9G1j6R-Y4VrbKpAdc
> .
@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:NP764786.RACrfC8pTgpHyEtU2F2pxsP9gEAy9G1j6R-Y4VrbKpAdc130_head
{
this:
np:hasAssertion
dgn-np:NP764786.RACrfC8pTgpHyEtU2F2pxsP9gEAy9G1j6R-Y4VrbKpAdc130_assertion
;
np:hasProvenance
dgn-np:NP764786.RACrfC8pTgpHyEtU2F2pxsP9gEAy9G1j6R-Y4VrbKpAdc130_provenance
;
np:hasPublicationInfo
dgn-np:NP764786.RACrfC8pTgpHyEtU2F2pxsP9gEAy9G1j6R-Y4VrbKpAdc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP764786.RACrfC8pTgpHyEtU2F2pxsP9gEAy9G1j6R-Y4VrbKpAdc130_assertion
a
np:Assertion
.
dgn-np:NP764786.RACrfC8pTgpHyEtU2F2pxsP9gEAy9G1j6R-Y4VrbKpAdc130_provenance
a
np:Provenance
.
dgn-np:NP764786.RACrfC8pTgpHyEtU2F2pxsP9gEAy9G1j6R-Y4VrbKpAdc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP764786.RACrfC8pTgpHyEtU2F2pxsP9gEAy9G1j6R-Y4VrbKpAdc130_assertion
{
miriam-gene:4867
a
ncit:C16612
.
lld:C1691228
a
ncit:C7057
.
dgn-gda:DGNf5dd4565b69713b2f78e3da26aea0a17
sio:SIO_000628
miriam-gene:4867
,
lld:C1691228
;
a
sio:SIO_001121
.
}
dgn-np:NP764786.RACrfC8pTgpHyEtU2F2pxsP9gEAy9G1j6R-Y4VrbKpAdc130_provenance
{
dgn-np:NP764786.RACrfC8pTgpHyEtU2F2pxsP9gEAy9G1j6R-Y4VrbKpAdc130_assertion
dcterms:description
"[Positional cloning of nine genes (NPHP1 through 9) and functional characterization of their encoded proteins (nephrocystins) have contributed to a unifying theory that defines cystic kidney diseases as `ciliopathies.` The theory is based on the finding that all proteins mutated in cystic kidney diseases of humans or animal models are expressed in primary cilia or centrosomes of renal epithelial cells.]. 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:19118152
;
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:NP764786.RACrfC8pTgpHyEtU2F2pxsP9gEAy9G1j6R-Y4VrbKpAdc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:43+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" .
}