@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP248978.RAu8uaR1HGlNdf7zlQUpuIP6vLpdzqNJdJE0RmzXJkfbU
> .
@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:NP248978.RAu8uaR1HGlNdf7zlQUpuIP6vLpdzqNJdJE0RmzXJkfbU130_head
{
this:
np:hasAssertion
dgn-np:NP248978.RAu8uaR1HGlNdf7zlQUpuIP6vLpdzqNJdJE0RmzXJkfbU130_assertion
;
np:hasProvenance
dgn-np:NP248978.RAu8uaR1HGlNdf7zlQUpuIP6vLpdzqNJdJE0RmzXJkfbU130_provenance
;
np:hasPublicationInfo
dgn-np:NP248978.RAu8uaR1HGlNdf7zlQUpuIP6vLpdzqNJdJE0RmzXJkfbU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP248978.RAu8uaR1HGlNdf7zlQUpuIP6vLpdzqNJdJE0RmzXJkfbU130_assertion
a
np:Assertion
.
dgn-np:NP248978.RAu8uaR1HGlNdf7zlQUpuIP6vLpdzqNJdJE0RmzXJkfbU130_provenance
a
np:Provenance
.
dgn-np:NP248978.RAu8uaR1HGlNdf7zlQUpuIP6vLpdzqNJdJE0RmzXJkfbU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP248978.RAu8uaR1HGlNdf7zlQUpuIP6vLpdzqNJdJE0RmzXJkfbU130_assertion
{
miriam-gene:7849
a
ncit:C16612
.
lld:C1563716
a
ncit:C7057
.
dgn-gda:DGN6de43cd469c52e9eb697e07bbf3e0eab
sio:SIO_000628
miriam-gene:7849
,
lld:C1563716
;
a
sio:SIO_001121
.
}
dgn-np:NP248978.RAu8uaR1HGlNdf7zlQUpuIP6vLpdzqNJdJE0RmzXJkfbU130_provenance
{
dgn-np:NP248978.RAu8uaR1HGlNdf7zlQUpuIP6vLpdzqNJdJE0RmzXJkfbU130_assertion
dcterms:description
"[Autosomal recessive inheritance of mutations of the thyrotrophin (TSH) receptor gene has also been reported in patients with CH and thyroid hypoplasia, and autosomal dominant mutations of the PAX8 gene have been described in patients with different forms of thyroid dysgenesis.]. 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:10102047
;
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:NP248978.RAu8uaR1HGlNdf7zlQUpuIP6vLpdzqNJdJE0RmzXJkfbU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:39+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" .
}