@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP282770.RAXi4VrCh48-wBjtuXIdw0Z9Qr4ltIOHhUNm7zA2ZCfWs
> .
@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:NP282770.RAXi4VrCh48-wBjtuXIdw0Z9Qr4ltIOHhUNm7zA2ZCfWs130_head
{
this:
np:hasAssertion
dgn-np:NP282770.RAXi4VrCh48-wBjtuXIdw0Z9Qr4ltIOHhUNm7zA2ZCfWs130_assertion
;
np:hasProvenance
dgn-np:NP282770.RAXi4VrCh48-wBjtuXIdw0Z9Qr4ltIOHhUNm7zA2ZCfWs130_provenance
;
np:hasPublicationInfo
dgn-np:NP282770.RAXi4VrCh48-wBjtuXIdw0Z9Qr4ltIOHhUNm7zA2ZCfWs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP282770.RAXi4VrCh48-wBjtuXIdw0Z9Qr4ltIOHhUNm7zA2ZCfWs130_assertion
a
np:Assertion
.
dgn-np:NP282770.RAXi4VrCh48-wBjtuXIdw0Z9Qr4ltIOHhUNm7zA2ZCfWs130_provenance
a
np:Provenance
.
dgn-np:NP282770.RAXi4VrCh48-wBjtuXIdw0Z9Qr4ltIOHhUNm7zA2ZCfWs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP282770.RAXi4VrCh48-wBjtuXIdw0Z9Qr4ltIOHhUNm7zA2ZCfWs130_assertion
{
miriam-gene:1910
a
ncit:C16612
.
lld:C0085758
a
ncit:C7057
.
dgn-gda:DGN03647c0f1284f3df7b4122f96a09976e
sio:SIO_000628
miriam-gene:1910
,
lld:C0085758
;
a
sio:SIO_001121
.
}
dgn-np:NP282770.RAXi4VrCh48-wBjtuXIdw0Z9Qr4ltIOHhUNm7zA2ZCfWs130_provenance
{
dgn-np:NP282770.RAXi4VrCh48-wBjtuXIdw0Z9Qr4ltIOHhUNm7zA2ZCfWs130_assertion
dcterms:description
"[However, the similarity between the distal colonic aganglionosis in Hirschsprung disease and that due to EDN3 or EDNRB mutations led to the hypothesis that levels of expression of these genes might be affected in the absence of mutation, thus causing the Hirschsprung disease 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:10792313
;
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:NP282770.RAXi4VrCh48-wBjtuXIdw0Z9Qr4ltIOHhUNm7zA2ZCfWs130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:53+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" .
}