@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP821755.RAPokzcqd_LvxxOaIPwxCdM7zlbvaYGY6Ye9iml9cVtb4
> .
@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:NP821755.RAPokzcqd_LvxxOaIPwxCdM7zlbvaYGY6Ye9iml9cVtb4130_head
{
this:
np:hasAssertion
dgn-np:NP821755.RAPokzcqd_LvxxOaIPwxCdM7zlbvaYGY6Ye9iml9cVtb4130_assertion
;
np:hasProvenance
dgn-np:NP821755.RAPokzcqd_LvxxOaIPwxCdM7zlbvaYGY6Ye9iml9cVtb4130_provenance
;
np:hasPublicationInfo
dgn-np:NP821755.RAPokzcqd_LvxxOaIPwxCdM7zlbvaYGY6Ye9iml9cVtb4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP821755.RAPokzcqd_LvxxOaIPwxCdM7zlbvaYGY6Ye9iml9cVtb4130_assertion
a
np:Assertion
.
dgn-np:NP821755.RAPokzcqd_LvxxOaIPwxCdM7zlbvaYGY6Ye9iml9cVtb4130_provenance
a
np:Provenance
.
dgn-np:NP821755.RAPokzcqd_LvxxOaIPwxCdM7zlbvaYGY6Ye9iml9cVtb4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP821755.RAPokzcqd_LvxxOaIPwxCdM7zlbvaYGY6Ye9iml9cVtb4130_assertion
{
miriam-gene:1040
a
ncit:C16612
.
lld:C2931876
a
ncit:C7057
.
dgn-gda:DGN5e773c0e2879a90858ce7f458bca1e1e
sio:SIO_000628
miriam-gene:1040
,
lld:C2931876
;
a
sio:SIO_001121
.
}
dgn-np:NP821755.RAPokzcqd_LvxxOaIPwxCdM7zlbvaYGY6Ye9iml9cVtb4130_provenance
{
dgn-np:NP821755.RAPokzcqd_LvxxOaIPwxCdM7zlbvaYGY6Ye9iml9cVtb4130_assertion
dcterms:description
"[While rare variants (RVs) in the coding sequence (CDS) of several genes involved in ENS development lead to disease, the association of common variants (CVs) with HSCR has only been reported for RET (the major HSCR gene) and NRG1.]. 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:23400839
;
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:NP821755.RAPokzcqd_LvxxOaIPwxCdM7zlbvaYGY6Ye9iml9cVtb4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:23+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" .
}