@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP511529.RAkGsqAwCbvJSO4h-ikU1LVVAt5sM3BhVbMwDt6FldP3g
> .
@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:NP511529.RAkGsqAwCbvJSO4h-ikU1LVVAt5sM3BhVbMwDt6FldP3g130_head
{
this:
np:hasAssertion
dgn-np:NP511529.RAkGsqAwCbvJSO4h-ikU1LVVAt5sM3BhVbMwDt6FldP3g130_assertion
;
np:hasProvenance
dgn-np:NP511529.RAkGsqAwCbvJSO4h-ikU1LVVAt5sM3BhVbMwDt6FldP3g130_provenance
;
np:hasPublicationInfo
dgn-np:NP511529.RAkGsqAwCbvJSO4h-ikU1LVVAt5sM3BhVbMwDt6FldP3g130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP511529.RAkGsqAwCbvJSO4h-ikU1LVVAt5sM3BhVbMwDt6FldP3g130_assertion
a
np:Assertion
.
dgn-np:NP511529.RAkGsqAwCbvJSO4h-ikU1LVVAt5sM3BhVbMwDt6FldP3g130_provenance
a
np:Provenance
.
dgn-np:NP511529.RAkGsqAwCbvJSO4h-ikU1LVVAt5sM3BhVbMwDt6FldP3g130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP511529.RAkGsqAwCbvJSO4h-ikU1LVVAt5sM3BhVbMwDt6FldP3g130_assertion
{
miriam-gene:50506
a
ncit:C16612
.
lld:C0342200
a
ncit:C7057
.
dgn-gda:DGN848f06c7797b451433becb31a8d0d0e2
sio:SIO_000628
miriam-gene:50506
,
lld:C0342200
;
a
sio:SIO_001121
.
}
dgn-np:NP511529.RAkGsqAwCbvJSO4h-ikU1LVVAt5sM3BhVbMwDt6FldP3g130_provenance
{
dgn-np:NP511529.RAkGsqAwCbvJSO4h-ikU1LVVAt5sM3BhVbMwDt6FldP3g130_assertion
dcterms:description
"[Only one study reported mutations in DUOX2 gene in congenital hypothyroidism (CH) associated with total iodide organification defect (TIOD) in homozygosity or with partial iodide organification defect (PIOD) in heterozygous patients.]. 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:16134168
;
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:NP511529.RAkGsqAwCbvJSO4h-ikU1LVVAt5sM3BhVbMwDt6FldP3g130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:36+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" .
}