@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP779898.RACf1bjAr69Yrw8KWGMx14t4FYYIsvj-1-vxXFxjIcCOs
> .
@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:NP779898.RACf1bjAr69Yrw8KWGMx14t4FYYIsvj-1-vxXFxjIcCOs130_head
{
this:
np:hasAssertion
dgn-np:NP779898.RACf1bjAr69Yrw8KWGMx14t4FYYIsvj-1-vxXFxjIcCOs130_assertion
;
np:hasProvenance
dgn-np:NP779898.RACf1bjAr69Yrw8KWGMx14t4FYYIsvj-1-vxXFxjIcCOs130_provenance
;
np:hasPublicationInfo
dgn-np:NP779898.RACf1bjAr69Yrw8KWGMx14t4FYYIsvj-1-vxXFxjIcCOs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP779898.RACf1bjAr69Yrw8KWGMx14t4FYYIsvj-1-vxXFxjIcCOs130_assertion
a
np:Assertion
.
dgn-np:NP779898.RACf1bjAr69Yrw8KWGMx14t4FYYIsvj-1-vxXFxjIcCOs130_provenance
a
np:Provenance
.
dgn-np:NP779898.RACf1bjAr69Yrw8KWGMx14t4FYYIsvj-1-vxXFxjIcCOs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP779898.RACf1bjAr69Yrw8KWGMx14t4FYYIsvj-1-vxXFxjIcCOs130_assertion
{
miriam-gene:10020
a
ncit:C16612
.
lld:C0342853
a
ncit:C7057
.
dgn-gda:DGNc1688199d00fc6b2f8a75439ec1fda7c
sio:SIO_000628
miriam-gene:10020
,
lld:C0342853
;
a
sio:SIO_001121
.
}
dgn-np:NP779898.RACf1bjAr69Yrw8KWGMx14t4FYYIsvj-1-vxXFxjIcCOs130_provenance
{
dgn-np:NP779898.RACf1bjAr69Yrw8KWGMx14t4FYYIsvj-1-vxXFxjIcCOs130_assertion
dcterms:description
"[Mutations associated with sialuria are located in the epimerase domain, and those associated with IBM2 are in the epimerase or the kinase domain or both, whereas the mutations we observed in the Nonaka myopathy patients were located in the sugar kinase domain of the 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:11916006
;
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:NP779898.RACf1bjAr69Yrw8KWGMx14t4FYYIsvj-1-vxXFxjIcCOs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:52+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" .
}