@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP405198.RAlLHz2US1gSngQUh5-r-JuNr8oUfBB8GfeHGgHK3ZXPg
> .
@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:NP405198.RAlLHz2US1gSngQUh5-r-JuNr8oUfBB8GfeHGgHK3ZXPg130_head
{
this:
np:hasAssertion
dgn-np:NP405198.RAlLHz2US1gSngQUh5-r-JuNr8oUfBB8GfeHGgHK3ZXPg130_assertion
;
np:hasProvenance
dgn-np:NP405198.RAlLHz2US1gSngQUh5-r-JuNr8oUfBB8GfeHGgHK3ZXPg130_provenance
;
np:hasPublicationInfo
dgn-np:NP405198.RAlLHz2US1gSngQUh5-r-JuNr8oUfBB8GfeHGgHK3ZXPg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP405198.RAlLHz2US1gSngQUh5-r-JuNr8oUfBB8GfeHGgHK3ZXPg130_assertion
a
np:Assertion
.
dgn-np:NP405198.RAlLHz2US1gSngQUh5-r-JuNr8oUfBB8GfeHGgHK3ZXPg130_provenance
a
np:Provenance
.
dgn-np:NP405198.RAlLHz2US1gSngQUh5-r-JuNr8oUfBB8GfeHGgHK3ZXPg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP405198.RAlLHz2US1gSngQUh5-r-JuNr8oUfBB8GfeHGgHK3ZXPg130_assertion
{
miriam-gene:5979
a
ncit:C16612
.
lld:C1847800
a
ncit:C7057
.
dgn-gda:DGN7ce64123a9bdbd1c85dddd6669512797
sio:SIO_000628
miriam-gene:5979
,
lld:C1847800
;
a
sio:SIO_001121
.
}
dgn-np:NP405198.RAlLHz2US1gSngQUh5-r-JuNr8oUfBB8GfeHGgHK3ZXPg130_provenance
{
dgn-np:NP405198.RAlLHz2US1gSngQUh5-r-JuNr8oUfBB8GfeHGgHK3ZXPg130_assertion
dcterms:description
"[Linkage analyses performed in this family support the view that neither the RET locus (candidate for familial dominant Hirschsprung disease) nor the HuP2 locus (candidate for Waardenburg syndrome type I) are involved in the 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:8877363
;
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:NP405198.RAlLHz2US1gSngQUh5-r-JuNr8oUfBB8GfeHGgHK3ZXPg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:01+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" .
}