@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP840684.RAasOsN2MiDzhSStn7wezj-ie7wigD3jj-qRT6P1Fafxk
> .
@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:NP840684.RAasOsN2MiDzhSStn7wezj-ie7wigD3jj-qRT6P1Fafxk130_head
{
this:
np:hasAssertion
dgn-np:NP840684.RAasOsN2MiDzhSStn7wezj-ie7wigD3jj-qRT6P1Fafxk130_assertion
;
np:hasProvenance
dgn-np:NP840684.RAasOsN2MiDzhSStn7wezj-ie7wigD3jj-qRT6P1Fafxk130_provenance
;
np:hasPublicationInfo
dgn-np:NP840684.RAasOsN2MiDzhSStn7wezj-ie7wigD3jj-qRT6P1Fafxk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP840684.RAasOsN2MiDzhSStn7wezj-ie7wigD3jj-qRT6P1Fafxk130_assertion
a
np:Assertion
.
dgn-np:NP840684.RAasOsN2MiDzhSStn7wezj-ie7wigD3jj-qRT6P1Fafxk130_provenance
a
np:Provenance
.
dgn-np:NP840684.RAasOsN2MiDzhSStn7wezj-ie7wigD3jj-qRT6P1Fafxk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP840684.RAasOsN2MiDzhSStn7wezj-ie7wigD3jj-qRT6P1Fafxk130_assertion
{
miriam-gene:92086
a
ncit:C16612
.
lld:C1112213
a
ncit:C7057
.
dgn-gda:DGN961e9f96e975f4f5018bdd044af1c023
sio:SIO_000628
miriam-gene:92086
,
lld:C1112213
;
a
sio:SIO_001121
.
}
dgn-np:NP840684.RAasOsN2MiDzhSStn7wezj-ie7wigD3jj-qRT6P1Fafxk130_provenance
{
dgn-np:NP840684.RAasOsN2MiDzhSStn7wezj-ie7wigD3jj-qRT6P1Fafxk130_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:NP840684.RAasOsN2MiDzhSStn7wezj-ie7wigD3jj-qRT6P1Fafxk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:40:34+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" .
}