@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP374008.RAAnoIDp4qk09Jn3DDe1T5upiYBoCycp8japj7R7yIXvU
> .
@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 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:NP374008.RAAnoIDp4qk09Jn3DDe1T5upiYBoCycp8japj7R7yIXvU130_head
{
this:
np:hasAssertion
dgn-np:NP374008.RAAnoIDp4qk09Jn3DDe1T5upiYBoCycp8japj7R7yIXvU130_assertion
;
np:hasProvenance
dgn-np:NP374008.RAAnoIDp4qk09Jn3DDe1T5upiYBoCycp8japj7R7yIXvU130_provenance
;
np:hasPublicationInfo
dgn-np:NP374008.RAAnoIDp4qk09Jn3DDe1T5upiYBoCycp8japj7R7yIXvU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP374008.RAAnoIDp4qk09Jn3DDe1T5upiYBoCycp8japj7R7yIXvU130_assertion
a
np:Assertion
.
dgn-np:NP374008.RAAnoIDp4qk09Jn3DDe1T5upiYBoCycp8japj7R7yIXvU130_provenance
a
np:Provenance
.
dgn-np:NP374008.RAAnoIDp4qk09Jn3DDe1T5upiYBoCycp8japj7R7yIXvU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP374008.RAAnoIDp4qk09Jn3DDe1T5upiYBoCycp8japj7R7yIXvU130_assertion
{
miriam-gene:1285
a
ncit:C16612
.
lld:C1859726
a
ncit:C7057
.
dgn-gda:DGN32b5453468ec24d6c02c97cad7b85044
sio:SIO_000628
miriam-gene:1285
,
lld:C1859726
;
a
sio:SIO_001121
.
}
dgn-np:NP374008.RAAnoIDp4qk09Jn3DDe1T5upiYBoCycp8japj7R7yIXvU130_provenance
{
dgn-np:NP374008.RAAnoIDp4qk09Jn3DDe1T5upiYBoCycp8japj7R7yIXvU130_assertion
dc:description
"[It became evident in recent years that mutations in the COL4A3 or the COL4A4 gene can give rise not only to autosomal recessive ATS syndrome, in which males and females are severely affected, but also to an autosomal dominant form, where the clinical progression towards impaired renal function can be very slow and also to benign familial hematuria (BFH) in which renal function is preserved.]. 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:12768082
;
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:NP374008.RAAnoIDp4qk09Jn3DDe1T5upiYBoCycp8japj7R7yIXvU130_publicationInfo
{
this:
dc:created
"2014-10-02T12:35:39+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc: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" .
}