@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP810461.RAh6wDSTdzJwpyhSijtvhtzfjlSZfvaH1GDu16Hjta6Vw
> .
@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/v3.0.0/void/
> .
dgn-np:NP810461.RAh6wDSTdzJwpyhSijtvhtzfjlSZfvaH1GDu16Hjta6Vw130_head
{
this:
np:hasAssertion
dgn-np:NP810461.RAh6wDSTdzJwpyhSijtvhtzfjlSZfvaH1GDu16Hjta6Vw130_assertion
;
np:hasProvenance
dgn-np:NP810461.RAh6wDSTdzJwpyhSijtvhtzfjlSZfvaH1GDu16Hjta6Vw130_provenance
;
np:hasPublicationInfo
dgn-np:NP810461.RAh6wDSTdzJwpyhSijtvhtzfjlSZfvaH1GDu16Hjta6Vw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP810461.RAh6wDSTdzJwpyhSijtvhtzfjlSZfvaH1GDu16Hjta6Vw130_assertion
a
np:Assertion
.
dgn-np:NP810461.RAh6wDSTdzJwpyhSijtvhtzfjlSZfvaH1GDu16Hjta6Vw130_provenance
a
np:Provenance
.
dgn-np:NP810461.RAh6wDSTdzJwpyhSijtvhtzfjlSZfvaH1GDu16Hjta6Vw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP810461.RAh6wDSTdzJwpyhSijtvhtzfjlSZfvaH1GDu16Hjta6Vw130_assertion
{
miriam-gene:8892
a
ncit:C16612
.
lld:C0027765
a
ncit:C7057
.
dgn-gda:DGN1c9c5eb7023b386455a4c58bfcbca0b8
sio:SIO_000628
miriam-gene:8892
,
lld:C0027765
;
a
sio:SIO_001121
.
}
dgn-np:NP810461.RAh6wDSTdzJwpyhSijtvhtzfjlSZfvaH1GDu16Hjta6Vw130_provenance
{
dgn-np:NP810461.RAh6wDSTdzJwpyhSijtvhtzfjlSZfvaH1GDu16Hjta6Vw130_assertion
dcterms:description
"[Mutations in the genes for eIF2B cause an often severe neurological disorder, 'vanishing white matter.' eIF2Bγ and eIF2Bε contain homologous and conserved domains with sequence similarity to nucleotidyl transferases (NTs) and acyl transferases and can form a binary complex.]. 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:22238342
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP810461.RAh6wDSTdzJwpyhSijtvhtzfjlSZfvaH1GDu16Hjta6Vw130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:51+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}