@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc
> .
@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:NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_head
{
this:
np:hasAssertion
dgn-np:NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_assertion
;
np:hasProvenance
dgn-np:NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_provenance
;
np:hasPublicationInfo
dgn-np:NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_assertion
a
np:Assertion
.
dgn-np:NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_provenance
a
np:Provenance
.
dgn-np:NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_assertion
{
miriam-gene:7253
a
ncit:C16612
.
lld:C1998045
a
ncit:C7057
.
dgn-gda:DGNe25e95ef510b6a27fad7e591a3e0a49b
sio:SIO_000628
miriam-gene:7253
,
lld:C1998045
;
a
sio:SIO_001121
.
}
dgn-np:NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_provenance
{
dgn-np:NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_assertion
dcterms:description
"[A novel heterozygous TSHR point mutation causing a glutamic acid to lysine substitution at codon 575 (E575K) in the second extracellular loop was detected in the three family members with subclinical hyperthyroidism, but was absent in her one daughter with normal thyroid function.]. 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:20929407
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP222201.RAipdTV-3A2b398DZ6kgXozeo5tqDuMZB_wjwvXir-uAc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:03+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" .
}