@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ
> .
@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:NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_head
{
this:
np:hasAssertion
dgn-np:NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_assertion
;
np:hasProvenance
dgn-np:NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_assertion
a
np:Assertion
.
dgn-np:NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_provenance
a
np:Provenance
.
dgn-np:NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_assertion
{
miriam-gene:1287
a
ncit:C16612
.
lld:C0018784
a
ncit:C7057
.
dgn-gda:DGNe85f1c4d4c7b312589aa6180bce4defe
sio:SIO_000628
miriam-gene:1287
,
lld:C0018784
;
a
sio:SIO_001121
.
}
dgn-np:NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_provenance
{
dgn-np:NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_assertion
dcterms:description
"[Mutations in the type IV collagen gene, COL4A5, are associated with Alport syndrome, characterized by ultrastructural abnormalities of the glomerular basement membrane (GBM), with or without progressive loss of renal function, characteristic ophthalmic signs and/or high tone sensorineural deafness.]. 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:17277342
;
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:NP615908.RAunBJl7AHsowJY0tq9y_4ifNZEZKOHmQpEabJKWsXeSQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:12+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" .
}