@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ
> .
@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:NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_head
{
this:
np:hasAssertion
dgn-np:NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_assertion
;
np:hasProvenance
dgn-np:NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_assertion
a
np:Assertion
.
dgn-np:NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_provenance
a
np:Provenance
.
dgn-np:NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_assertion
{
miriam-gene:55315
a
ncit:C16612
.
lld:C1864445
a
ncit:C7057
.
dgn-gda:DGNcbe2897863dda00e5c3e4a4d1452ab2c
sio:SIO_000628
miriam-gene:55315
,
lld:C1864445
;
a
sio:SIO_001121
.
}
dgn-np:NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_provenance
{
dgn-np:NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_assertion
dcterms:description
"[H syndrome and pigmented hypertrichosis with insulin dependent diabetes (PHID) are allelic autosomal recessive syndromes reported in the last year to be caused by mutations in the SLC29A3 gene, which encodes the equilibrative nucleoside transporter hENT3.]. 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:20619369
;
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:NP918061.RA1AB5bul5PapoOoY1k1C6wTIAEesYbsCE53REXmqPvoQ130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:47:00+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" .
}