@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP362604.RAeT837OeuFCh3knnyi72L2mr2juGRbMJ7DHOL8FYmiYM
> .
@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:NP362604.RAeT837OeuFCh3knnyi72L2mr2juGRbMJ7DHOL8FYmiYM130_head
{
this:
np:hasAssertion
dgn-np:NP362604.RAeT837OeuFCh3knnyi72L2mr2juGRbMJ7DHOL8FYmiYM130_assertion
;
np:hasProvenance
dgn-np:NP362604.RAeT837OeuFCh3knnyi72L2mr2juGRbMJ7DHOL8FYmiYM130_provenance
;
np:hasPublicationInfo
dgn-np:NP362604.RAeT837OeuFCh3knnyi72L2mr2juGRbMJ7DHOL8FYmiYM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP362604.RAeT837OeuFCh3knnyi72L2mr2juGRbMJ7DHOL8FYmiYM130_assertion
a
np:Assertion
.
dgn-np:NP362604.RAeT837OeuFCh3knnyi72L2mr2juGRbMJ7DHOL8FYmiYM130_provenance
a
np:Provenance
.
dgn-np:NP362604.RAeT837OeuFCh3knnyi72L2mr2juGRbMJ7DHOL8FYmiYM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP362604.RAeT837OeuFCh3knnyi72L2mr2juGRbMJ7DHOL8FYmiYM130_assertion
{
miriam-gene:128674
a
ncit:C16612
.
lld:C2931876
a
ncit:C7057
.
dgn-gda:DGNded724fc34a585afa6e7ee903eb30921
sio:SIO_000628
miriam-gene:128674
,
lld:C2931876
;
a
sio:SIO_001121
.
}
dgn-np:NP362604.RAeT837OeuFCh3knnyi72L2mr2juGRbMJ7DHOL8FYmiYM130_provenance
{
dgn-np:NP362604.RAeT837OeuFCh3knnyi72L2mr2juGRbMJ7DHOL8FYmiYM130_assertion
dcterms:description
"[These findings, together with the detection of sequence variants in PROKR1, PROK1 and PROKR2 genes associated to HSCR and, in some cases in combination with RET or GDNF mutations, provide the first evidence to consider them as susceptibility genes for HSCR.]. 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:21858136
;
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:NP362604.RAeT837OeuFCh3knnyi72L2mr2juGRbMJ7DHOL8FYmiYM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:32+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" .
}