@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1179424.RADqgzSURmE-8Esz9YRO2j7sfGDeLwdi4FLfeulmeRVOA
> .
@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:NP1179424.RADqgzSURmE-8Esz9YRO2j7sfGDeLwdi4FLfeulmeRVOA130_head
{
this:
np:hasAssertion
dgn-np:NP1179424.RADqgzSURmE-8Esz9YRO2j7sfGDeLwdi4FLfeulmeRVOA130_assertion
;
np:hasProvenance
dgn-np:NP1179424.RADqgzSURmE-8Esz9YRO2j7sfGDeLwdi4FLfeulmeRVOA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1179424.RADqgzSURmE-8Esz9YRO2j7sfGDeLwdi4FLfeulmeRVOA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1179424.RADqgzSURmE-8Esz9YRO2j7sfGDeLwdi4FLfeulmeRVOA130_assertion
a
np:Assertion
.
dgn-np:NP1179424.RADqgzSURmE-8Esz9YRO2j7sfGDeLwdi4FLfeulmeRVOA130_provenance
a
np:Provenance
.
dgn-np:NP1179424.RADqgzSURmE-8Esz9YRO2j7sfGDeLwdi4FLfeulmeRVOA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1179424.RADqgzSURmE-8Esz9YRO2j7sfGDeLwdi4FLfeulmeRVOA130_assertion
{
miriam-gene:7337
a
ncit:C16612
.
lld:C0424605
a
ncit:C7057
.
dgn-gda:DGN7b09f5e0c6679c4e2d396a714ce0bfd0
sio:SIO_000628
miriam-gene:7337
,
lld:C0424605
;
a
sio:SIO_001121
.
}
dgn-np:NP1179424.RADqgzSURmE-8Esz9YRO2j7sfGDeLwdi4FLfeulmeRVOA130_provenance
{
dgn-np:NP1179424.RADqgzSURmE-8Esz9YRO2j7sfGDeLwdi4FLfeulmeRVOA130_assertion
dcterms:description
"[Neurological manifestations including psychomotor developmental delay and epilepsy in patients with Angelman syndrome caused by ubiquitin protein ligase E3A (UBE3A) mutations has been considered similar but is relatively milder than that in patients with deletion-type Angelman 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:24796722
;
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:NP1179424.RADqgzSURmE-8Esz9YRO2j7sfGDeLwdi4FLfeulmeRVOA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:40+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" .
}