@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP509814.RAQVm4caa6h57MyJ_zMWwwUwD1jSg4eD4OcHrBvPgMQsc
> .
@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:NP509814.RAQVm4caa6h57MyJ_zMWwwUwD1jSg4eD4OcHrBvPgMQsc130_head
{
this:
np:hasAssertion
dgn-np:NP509814.RAQVm4caa6h57MyJ_zMWwwUwD1jSg4eD4OcHrBvPgMQsc130_assertion
;
np:hasProvenance
dgn-np:NP509814.RAQVm4caa6h57MyJ_zMWwwUwD1jSg4eD4OcHrBvPgMQsc130_provenance
;
np:hasPublicationInfo
dgn-np:NP509814.RAQVm4caa6h57MyJ_zMWwwUwD1jSg4eD4OcHrBvPgMQsc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP509814.RAQVm4caa6h57MyJ_zMWwwUwD1jSg4eD4OcHrBvPgMQsc130_assertion
a
np:Assertion
.
dgn-np:NP509814.RAQVm4caa6h57MyJ_zMWwwUwD1jSg4eD4OcHrBvPgMQsc130_provenance
a
np:Provenance
.
dgn-np:NP509814.RAQVm4caa6h57MyJ_zMWwwUwD1jSg4eD4OcHrBvPgMQsc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP509814.RAQVm4caa6h57MyJ_zMWwwUwD1jSg4eD4OcHrBvPgMQsc130_assertion
{
miriam-gene:6663
a
ncit:C16612
.
lld:C2931876
a
ncit:C7057
.
dgn-gda:DGNe818e60c6e3720f61c9add30d8793e64
sio:SIO_000628
miriam-gene:6663
,
lld:C2931876
;
a
sio:SIO_001121
.
}
dgn-np:NP509814.RAQVm4caa6h57MyJ_zMWwwUwD1jSg4eD4OcHrBvPgMQsc130_provenance
{
dgn-np:NP509814.RAQVm4caa6h57MyJ_zMWwwUwD1jSg4eD4OcHrBvPgMQsc130_assertion
dcterms:description
"[Mutations in the GDNF gene, and encoding one of the RET ligands, either alone or in combination with RET mutations, can also cause HSCR, as can mutations in four other genes (EDN3, EDNRB, ECE1, and SOX10).]. 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:10790203
;
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:NP509814.RAQVm4caa6h57MyJ_zMWwwUwD1jSg4eD4OcHrBvPgMQsc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:04+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" .
}