@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP865892.RAi2llvvlgH2q4rAjZgf48m5-aJ0M9PRDTctkK6c9p2sE
> .
@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:NP865892.RAi2llvvlgH2q4rAjZgf48m5-aJ0M9PRDTctkK6c9p2sE130_head
{
this:
np:hasAssertion
dgn-np:NP865892.RAi2llvvlgH2q4rAjZgf48m5-aJ0M9PRDTctkK6c9p2sE130_assertion
;
np:hasProvenance
dgn-np:NP865892.RAi2llvvlgH2q4rAjZgf48m5-aJ0M9PRDTctkK6c9p2sE130_provenance
;
np:hasPublicationInfo
dgn-np:NP865892.RAi2llvvlgH2q4rAjZgf48m5-aJ0M9PRDTctkK6c9p2sE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP865892.RAi2llvvlgH2q4rAjZgf48m5-aJ0M9PRDTctkK6c9p2sE130_assertion
a
np:Assertion
.
dgn-np:NP865892.RAi2llvvlgH2q4rAjZgf48m5-aJ0M9PRDTctkK6c9p2sE130_provenance
a
np:Provenance
.
dgn-np:NP865892.RAi2llvvlgH2q4rAjZgf48m5-aJ0M9PRDTctkK6c9p2sE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP865892.RAi2llvvlgH2q4rAjZgf48m5-aJ0M9PRDTctkK6c9p2sE130_assertion
{
miriam-gene:8026
a
ncit:C16612
.
lld:C0012236
a
ncit:C7057
.
dgn-gda:DGNec42992139f9c9759dfb3d1568723f51
sio:SIO_000628
miriam-gene:8026
,
lld:C0012236
;
a
sio:SIO_001121
.
}
dgn-np:NP865892.RAi2llvvlgH2q4rAjZgf48m5-aJ0M9PRDTctkK6c9p2sE130_provenance
{
dgn-np:NP865892.RAi2llvvlgH2q4rAjZgf48m5-aJ0M9PRDTctkK6c9p2sE130_assertion
dcterms:description
"[GATA3 mutations cause HDR (hypoparathyroidism, sensorineural deafness, and renal dysplasia) syndrome and, consistent with the presence of the second DiGeorge syndrome locus (DGS2) proximal to GATA3, distal 10p deletions often leads to HDR and DiGeorge syndromes.]. 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:21242646
;
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:NP865892.RAi2llvvlgH2q4rAjZgf48m5-aJ0M9PRDTctkK6c9p2sE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:17+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" .
}