@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M
> .
@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:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_head
{
this:
np:hasAssertion
dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_assertion
;
np:hasProvenance
dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_provenance
;
np:hasPublicationInfo
dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_assertion
a
np:Assertion
.
dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_provenance
a
np:Provenance
.
dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_assertion
{
miriam-gene:1786
a
ncit:C16612
.
lld:C1858804
a
ncit:C7057
.
dgn-gda:DGN02b44c380972f5166df63f81615cfade
sio:SIO_000628
miriam-gene:1786
,
lld:C1858804
;
a
sio:SIO_001121
.
}
dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_provenance
{
dgn-np:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_assertion
dcterms:description
"[To date, two phenotypes produced by DNMT1 mutations have been reported, including hereditary sensory and autonomic neuropathy (HSAN) type IE with mutations in exon 20, and autosomal dominant cerebellar ataxia, deafness, and narcolepsy caused by mutations in exon 21.]. 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:23521649
;
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:NP1062638.RAGXah-e79XP4MqkSh6jqRRaexDxvTn0gjlM-WKLo757M130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:49:48+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" .
}