@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP299213.RAmRugM1skBzyrV4wh2WTKft_Sjhe49Lnc9sPnywaiSkE
> .
@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:NP299213.RAmRugM1skBzyrV4wh2WTKft_Sjhe49Lnc9sPnywaiSkE130_head
{
this:
np:hasAssertion
dgn-np:NP299213.RAmRugM1skBzyrV4wh2WTKft_Sjhe49Lnc9sPnywaiSkE130_assertion
;
np:hasProvenance
dgn-np:NP299213.RAmRugM1skBzyrV4wh2WTKft_Sjhe49Lnc9sPnywaiSkE130_provenance
;
np:hasPublicationInfo
dgn-np:NP299213.RAmRugM1skBzyrV4wh2WTKft_Sjhe49Lnc9sPnywaiSkE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP299213.RAmRugM1skBzyrV4wh2WTKft_Sjhe49Lnc9sPnywaiSkE130_assertion
a
np:Assertion
.
dgn-np:NP299213.RAmRugM1skBzyrV4wh2WTKft_Sjhe49Lnc9sPnywaiSkE130_provenance
a
np:Provenance
.
dgn-np:NP299213.RAmRugM1skBzyrV4wh2WTKft_Sjhe49Lnc9sPnywaiSkE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP299213.RAmRugM1skBzyrV4wh2WTKft_Sjhe49Lnc9sPnywaiSkE130_assertion
{
miriam-gene:5741
a
ncit:C16612
.
lld:C0020626
a
ncit:C7057
.
dgn-gda:DGN393f73337c5a1f18ded6997a27d75e41
sio:SIO_000628
miriam-gene:5741
,
lld:C0020626
;
a
sio:SIO_001121
.
}
dgn-np:NP299213.RAmRugM1skBzyrV4wh2WTKft_Sjhe49Lnc9sPnywaiSkE130_provenance
{
dgn-np:NP299213.RAmRugM1skBzyrV4wh2WTKft_Sjhe49Lnc9sPnywaiSkE130_assertion
dcterms:description
"[In 2 families, concordance was found between the inheritance of hypoparathyroidism and specific PTH alleles in affected members, suggesting that in these families, hypoparathyroidism may be due to an alteration in or near the PTH structural gene.]. 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:3005800
;
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:NP299213.RAmRugM1skBzyrV4wh2WTKft_Sjhe49Lnc9sPnywaiSkE130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:50+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" .
}