@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP483826.RAUxuU-KYC8BHynTmzOWopjDtcavcTEU3P5EL90lXt99w
> .
@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:NP483826.RAUxuU-KYC8BHynTmzOWopjDtcavcTEU3P5EL90lXt99w130_head
{
this:
np:hasAssertion
dgn-np:NP483826.RAUxuU-KYC8BHynTmzOWopjDtcavcTEU3P5EL90lXt99w130_assertion
;
np:hasProvenance
dgn-np:NP483826.RAUxuU-KYC8BHynTmzOWopjDtcavcTEU3P5EL90lXt99w130_provenance
;
np:hasPublicationInfo
dgn-np:NP483826.RAUxuU-KYC8BHynTmzOWopjDtcavcTEU3P5EL90lXt99w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP483826.RAUxuU-KYC8BHynTmzOWopjDtcavcTEU3P5EL90lXt99w130_assertion
a
np:Assertion
.
dgn-np:NP483826.RAUxuU-KYC8BHynTmzOWopjDtcavcTEU3P5EL90lXt99w130_provenance
a
np:Provenance
.
dgn-np:NP483826.RAUxuU-KYC8BHynTmzOWopjDtcavcTEU3P5EL90lXt99w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP483826.RAUxuU-KYC8BHynTmzOWopjDtcavcTEU3P5EL90lXt99w130_assertion
{
miriam-gene:92086
a
ncit:C16612
.
lld:C0151747
a
ncit:C7057
.
dgn-gda:DGNdef21b4c4a5de7215119c39854df2eb8
sio:SIO_000628
miriam-gene:92086
,
lld:C0151747
;
a
sio:SIO_001121
.
}
dgn-np:NP483826.RAUxuU-KYC8BHynTmzOWopjDtcavcTEU3P5EL90lXt99w130_provenance
{
dgn-np:NP483826.RAUxuU-KYC8BHynTmzOWopjDtcavcTEU3P5EL90lXt99w130_assertion
dcterms:description
"[ARC syndrome (OMIM 208085) is an autosomal recessive multisystem disorder characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase (gGT) activity.]. 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:15052268
;
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:NP483826.RAUxuU-KYC8BHynTmzOWopjDtcavcTEU3P5EL90lXt99w130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:49+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" .
}