@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP264946.RAgvC3slOIl3Atc-npjHdRHtvAV0o_PbaUM3J1Iz6SSw8
> .
@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:NP264946.RAgvC3slOIl3Atc-npjHdRHtvAV0o_PbaUM3J1Iz6SSw8130_head
{
this:
np:hasAssertion
dgn-np:NP264946.RAgvC3slOIl3Atc-npjHdRHtvAV0o_PbaUM3J1Iz6SSw8130_assertion
;
np:hasProvenance
dgn-np:NP264946.RAgvC3slOIl3Atc-npjHdRHtvAV0o_PbaUM3J1Iz6SSw8130_provenance
;
np:hasPublicationInfo
dgn-np:NP264946.RAgvC3slOIl3Atc-npjHdRHtvAV0o_PbaUM3J1Iz6SSw8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP264946.RAgvC3slOIl3Atc-npjHdRHtvAV0o_PbaUM3J1Iz6SSw8130_assertion
a
np:Assertion
.
dgn-np:NP264946.RAgvC3slOIl3Atc-npjHdRHtvAV0o_PbaUM3J1Iz6SSw8130_provenance
a
np:Provenance
.
dgn-np:NP264946.RAgvC3slOIl3Atc-npjHdRHtvAV0o_PbaUM3J1Iz6SSw8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP264946.RAgvC3slOIl3Atc-npjHdRHtvAV0o_PbaUM3J1Iz6SSw8130_assertion
{
miriam-gene:51366
a
ncit:C16612
.
lld:C0162635
a
ncit:C7057
.
dgn-gda:DGN27b73eefffbe742257f292b98950d35d
sio:SIO_000628
miriam-gene:51366
,
lld:C0162635
;
a
sio:SIO_001121
.
}
dgn-np:NP264946.RAgvC3slOIl3Atc-npjHdRHtvAV0o_PbaUM3J1Iz6SSw8130_provenance
{
dgn-np:NP264946.RAgvC3slOIl3Atc-npjHdRHtvAV0o_PbaUM3J1Iz6SSw8130_assertion
dcterms:description
"[The UBE3A gene, which codes for the enzyme ubiquitin protein ligase involved in protein degradation and processing, has been found to be mutated in many but not all of patients with Angelman syndrome and can be considered a major Angelman candidate gene.]. 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:10514831
;
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:NP264946.RAgvC3slOIl3Atc-npjHdRHtvAV0o_PbaUM3J1Iz6SSw8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:46+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" .
}