@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU
> .
@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:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_head
{
this:
np:hasAssertion
dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_assertion
;
np:hasProvenance
dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_provenance
;
np:hasPublicationInfo
dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_assertion
a
np:Assertion
.
dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_provenance
a
np:Provenance
.
dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_assertion
{
miriam-gene:5741
a
ncit:C16612
.
lld:C0020599
a
ncit:C7057
.
dgn-gda:DGN19cf4f7ae4ece6648f4334236120b61b
sio:SIO_000628
miriam-gene:5741
,
lld:C0020599
;
a
sio:SIO_001121
.
}
dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_provenance
{
dgn-np:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_assertion
dcterms:description
"[FBHH is a rare autosomal dominant disorder exhibiting benign hypercalcemia, inappropriately normal parathyroid hormone (PTH) levels, and relative hypocalciuria, thus reflecting partial resistance to the normal effects of extracellular calcium on parathyroid glands and kidneys.]. 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:12412778
;
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:NP700166.RAQPyYDPVwQs3-ymHwqX4gHzG2PTpwQDuYfSdvsrCtOXU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:05+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" .
}