@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP763604.RAyj2noOqwO76H5AC95oNOlxxd-_huz2LC42Oqq7bj6VQ
> .
@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:NP763604.RAyj2noOqwO76H5AC95oNOlxxd-_huz2LC42Oqq7bj6VQ130_head
{
this:
np:hasAssertion
dgn-np:NP763604.RAyj2noOqwO76H5AC95oNOlxxd-_huz2LC42Oqq7bj6VQ130_assertion
;
np:hasProvenance
dgn-np:NP763604.RAyj2noOqwO76H5AC95oNOlxxd-_huz2LC42Oqq7bj6VQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP763604.RAyj2noOqwO76H5AC95oNOlxxd-_huz2LC42Oqq7bj6VQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP763604.RAyj2noOqwO76H5AC95oNOlxxd-_huz2LC42Oqq7bj6VQ130_assertion
a
np:Assertion
.
dgn-np:NP763604.RAyj2noOqwO76H5AC95oNOlxxd-_huz2LC42Oqq7bj6VQ130_provenance
a
np:Provenance
.
dgn-np:NP763604.RAyj2noOqwO76H5AC95oNOlxxd-_huz2LC42Oqq7bj6VQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP763604.RAyj2noOqwO76H5AC95oNOlxxd-_huz2LC42Oqq7bj6VQ130_assertion
{
miriam-gene:55315
a
ncit:C16612
.
lld:C0011854
a
ncit:C7057
.
dgn-gda:DGNeea30dd468ff4d20467778545c164478
sio:SIO_000628
miriam-gene:55315
,
lld:C0011854
;
a
sio:SIO_001121
.
}
dgn-np:NP763604.RAyj2noOqwO76H5AC95oNOlxxd-_huz2LC42Oqq7bj6VQ130_provenance
{
dgn-np:NP763604.RAyj2noOqwO76H5AC95oNOlxxd-_huz2LC42Oqq7bj6VQ130_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-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:NP763604.RAyj2noOqwO76H5AC95oNOlxxd-_huz2LC42Oqq7bj6VQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:42+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" .
}