@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1252906.RACUlB1SuiHFwK0UU4gN1TNWecrUkGMzqD54hKif1L4Go
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1252906.RACUlB1SuiHFwK0UU4gN1TNWecrUkGMzqD54hKif1L4Go130_head
{
this:
np:hasAssertion
dgn-np:NP1252906.RACUlB1SuiHFwK0UU4gN1TNWecrUkGMzqD54hKif1L4Go130_assertion
;
np:hasProvenance
dgn-np:NP1252906.RACUlB1SuiHFwK0UU4gN1TNWecrUkGMzqD54hKif1L4Go130_provenance
;
np:hasPublicationInfo
dgn-np:NP1252906.RACUlB1SuiHFwK0UU4gN1TNWecrUkGMzqD54hKif1L4Go130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1252906.RACUlB1SuiHFwK0UU4gN1TNWecrUkGMzqD54hKif1L4Go130_assertion
a
np:Assertion
.
dgn-np:NP1252906.RACUlB1SuiHFwK0UU4gN1TNWecrUkGMzqD54hKif1L4Go130_provenance
a
np:Provenance
.
dgn-np:NP1252906.RACUlB1SuiHFwK0UU4gN1TNWecrUkGMzqD54hKif1L4Go130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1252906.RACUlB1SuiHFwK0UU4gN1TNWecrUkGMzqD54hKif1L4Go130_assertion
{
miriam-gene:4868
a
ncit:C16612
.
lld:C0403399
a
ncit:C7057
.
dgn-gda:DGN30cc09a3c29ebd59ad7996d5bcbcf9b2
sio:SIO_000628
miriam-gene:4868
,
lld:C0403399
;
a
sio:SIO_001121
.
}
dgn-np:NP1252906.RACUlB1SuiHFwK0UU4gN1TNWecrUkGMzqD54hKif1L4Go130_provenance
{
dgn-np:NP1252906.RACUlB1SuiHFwK0UU4gN1TNWecrUkGMzqD54hKif1L4Go130_assertion
dcterms:description
"[Examination of the kidneys in one fetus showed tubular cysts at the corticomedullary junction and diffuse effacement of the epithelial foot processes and microvillous transformation of the renal podocytes, findings that were similar to those reported in congenital nephrotic syndrome, Finnish type, that is caused by mutations in nephrin (NPHS1).]. 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:25557780
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1252906.RACUlB1SuiHFwK0UU4gN1TNWecrUkGMzqD54hKif1L4Go130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:14+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}