@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP788672.RAshDNnaNQWbYNFvwSRsObOdza_EEmyIY8zWEk-sCxBzM
> .
@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:NP788672.RAshDNnaNQWbYNFvwSRsObOdza_EEmyIY8zWEk-sCxBzM130_head
{
this:
np:hasAssertion
dgn-np:NP788672.RAshDNnaNQWbYNFvwSRsObOdza_EEmyIY8zWEk-sCxBzM130_assertion
;
np:hasProvenance
dgn-np:NP788672.RAshDNnaNQWbYNFvwSRsObOdza_EEmyIY8zWEk-sCxBzM130_provenance
;
np:hasPublicationInfo
dgn-np:NP788672.RAshDNnaNQWbYNFvwSRsObOdza_EEmyIY8zWEk-sCxBzM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP788672.RAshDNnaNQWbYNFvwSRsObOdza_EEmyIY8zWEk-sCxBzM130_assertion
a
np:Assertion
.
dgn-np:NP788672.RAshDNnaNQWbYNFvwSRsObOdza_EEmyIY8zWEk-sCxBzM130_provenance
a
np:Provenance
.
dgn-np:NP788672.RAshDNnaNQWbYNFvwSRsObOdza_EEmyIY8zWEk-sCxBzM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP788672.RAshDNnaNQWbYNFvwSRsObOdza_EEmyIY8zWEk-sCxBzM130_assertion
{
miriam-gene:7038
a
ncit:C16612
.
lld:C0010308
a
ncit:C7057
.
dgn-gda:DGNd178ce297a40f05137c66b79388ec967
sio:SIO_000628
miriam-gene:7038
,
lld:C0010308
;
a
sio:SIO_001121
.
}
dgn-np:NP788672.RAshDNnaNQWbYNFvwSRsObOdza_EEmyIY8zWEk-sCxBzM130_provenance
{
dgn-np:NP788672.RAshDNnaNQWbYNFvwSRsObOdza_EEmyIY8zWEk-sCxBzM130_assertion
dcterms:description
"[This dyshormonogenesis displays a wide phenotype variation and is characterized usually by: the presence of congenital goiter or goiter appearing shortly after birth, high (131)I uptake, negative perchlorate discharge test, low serum TG and elevated serum TSH with simultaneous low serum T(4) and low, normal or high serum T(3).]. 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:20093166
;
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:NP788672.RAshDNnaNQWbYNFvwSRsObOdza_EEmyIY8zWEk-sCxBzM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:42+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: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" .
}