@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP14241.RAkTvs797cpTEQdgqkS1zgrCfy4mk7veFYCBnG9gY1FSA
> .
@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:NP14241.RAkTvs797cpTEQdgqkS1zgrCfy4mk7veFYCBnG9gY1FSA130_head
{
this:
np:hasAssertion
dgn-np:NP14241.RAkTvs797cpTEQdgqkS1zgrCfy4mk7veFYCBnG9gY1FSA130_assertion
;
np:hasProvenance
dgn-np:NP14241.RAkTvs797cpTEQdgqkS1zgrCfy4mk7veFYCBnG9gY1FSA130_provenance
;
np:hasPublicationInfo
dgn-np:NP14241.RAkTvs797cpTEQdgqkS1zgrCfy4mk7veFYCBnG9gY1FSA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP14241.RAkTvs797cpTEQdgqkS1zgrCfy4mk7veFYCBnG9gY1FSA130_assertion
a
np:Assertion
.
dgn-np:NP14241.RAkTvs797cpTEQdgqkS1zgrCfy4mk7veFYCBnG9gY1FSA130_provenance
a
np:Provenance
.
dgn-np:NP14241.RAkTvs797cpTEQdgqkS1zgrCfy4mk7veFYCBnG9gY1FSA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP14241.RAkTvs797cpTEQdgqkS1zgrCfy4mk7veFYCBnG9gY1FSA130_assertion
{
miriam-gene:50506
a
ncit:C16612
.
lld:C0010308
a
ncit:C7057
.
dgn-gda:DGNd962ab90df00b336cede0815f7cf0be5
sio:SIO_000628
miriam-gene:50506
,
lld:C0010308
;
a
sio:SIO_001121
.
}
dgn-np:NP14241.RAkTvs797cpTEQdgqkS1zgrCfy4mk7veFYCBnG9gY1FSA130_provenance
{
dgn-np:NP14241.RAkTvs797cpTEQdgqkS1zgrCfy4mk7veFYCBnG9gY1FSA130_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_curated
;
sio:SIO_000772
miriam-pubmed:16134168
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP14241.RAkTvs797cpTEQdgqkS1zgrCfy4mk7veFYCBnG9gY1FSA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:04+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" .
}