@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ
> .
@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/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@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/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_head
{
this:
np:hasAssertion
dgn-np:NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_assertion
;
np:hasProvenance
dgn-np:NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_assertion
a
np:Assertion
.
dgn-np:NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_provenance
a
np:Provenance
.
dgn-np:NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_assertion
{
miriam-gene:57724
a
ncit:C16612
.
lld:C0162835
a
ncit:C7057
.
dgn-gda:DGN03b8eaa2aa164ab10a454bc44ed3215c
sio:SIO_000628
miriam-gene:57724
,
lld:C0162835
;
a
sio:SIO_001121
.
}
dgn-np:NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_provenance
{
dgn-np:NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_assertion
dcterms:description
"[Vici syndrome is a rare autosomal recessively inherited multisystem disorder characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficiency, psychomotor delay, and hypopigmentation.Cullup et al. recently identified mutations in the gene EPG5 as the cause of Vici syndrome.]. 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:25331754
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP1230919.RAgL2d2X-A6bnhJNij1NtdEnvg1MyxvLgW7KPMyR8PwZQ130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:04+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:disgenetv3.0rdf
;
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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}