@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE
> .
@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:NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_head
{
this:
np:hasAssertion
dgn-np:NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_assertion
;
np:hasProvenance
dgn-np:NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_provenance
;
np:hasPublicationInfo
dgn-np:NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_assertion
a
np:Assertion
.
dgn-np:NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_provenance
a
np:Provenance
.
dgn-np:NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_assertion
{
miriam-gene:8026
a
ncit:C16612
.
lld:C0018798
a
ncit:C7057
.
dgn-gda:DGN1d33aa840736a19f89418d9525f37b87
sio:SIO_000628
miriam-gene:8026
,
lld:C0018798
;
a
sio:SIO_001121
.
}
dgn-np:NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_provenance
{
dgn-np:NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_assertion
dcterms:description
"[The phenotype is the result of haploinsufficiency of at least two regions on 10p, the HDR1 region associated with hypoparathyroidism, sensorineural deafness, and renal defects (HDR syndrome) and the more proximal region DGCR2 responsible for heart defects and thymus hypoplasia/aplasia.]. 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:12110949
;
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:NP206994.RAEAMWJfZK76MqCY0tgf48WJ2e8A1a750H-CS0C67xjDE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:33:54+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" .
}