@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP788220.RArhl0nmBnfi9VDzY-8pigfoQkvXRKJCjQPxJnfNGhIjA
> .
@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:NP788220.RArhl0nmBnfi9VDzY-8pigfoQkvXRKJCjQPxJnfNGhIjA130_head
{
this:
np:hasAssertion
dgn-np:NP788220.RArhl0nmBnfi9VDzY-8pigfoQkvXRKJCjQPxJnfNGhIjA130_assertion
;
np:hasProvenance
dgn-np:NP788220.RArhl0nmBnfi9VDzY-8pigfoQkvXRKJCjQPxJnfNGhIjA130_provenance
;
np:hasPublicationInfo
dgn-np:NP788220.RArhl0nmBnfi9VDzY-8pigfoQkvXRKJCjQPxJnfNGhIjA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP788220.RArhl0nmBnfi9VDzY-8pigfoQkvXRKJCjQPxJnfNGhIjA130_assertion
a
np:Assertion
.
dgn-np:NP788220.RArhl0nmBnfi9VDzY-8pigfoQkvXRKJCjQPxJnfNGhIjA130_provenance
a
np:Provenance
.
dgn-np:NP788220.RArhl0nmBnfi9VDzY-8pigfoQkvXRKJCjQPxJnfNGhIjA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP788220.RArhl0nmBnfi9VDzY-8pigfoQkvXRKJCjQPxJnfNGhIjA130_assertion
{
miriam-gene:9351
a
ncit:C16612
.
lld:C2931876
a
ncit:C7057
.
dgn-gda:DGNb795ea18d9582e9c6a5c7ce5e7a64084
sio:SIO_000628
miriam-gene:9351
,
lld:C2931876
;
a
sio:SIO_001121
.
}
dgn-np:NP788220.RArhl0nmBnfi9VDzY-8pigfoQkvXRKJCjQPxJnfNGhIjA130_provenance
{
dgn-np:NP788220.RArhl0nmBnfi9VDzY-8pigfoQkvXRKJCjQPxJnfNGhIjA130_assertion
dcterms:description
"[Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of 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:16618617
;
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:NP788220.RArhl0nmBnfi9VDzY-8pigfoQkvXRKJCjQPxJnfNGhIjA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:00+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" .
}