@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1276467.RABzUYJOFJoiZMmpceiunIn2XhoeYwbwzrmAxn7A4VGxk
> .
@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:NP1276467.RABzUYJOFJoiZMmpceiunIn2XhoeYwbwzrmAxn7A4VGxk130_head
{
this:
np:hasAssertion
dgn-np:NP1276467.RABzUYJOFJoiZMmpceiunIn2XhoeYwbwzrmAxn7A4VGxk130_assertion
;
np:hasProvenance
dgn-np:NP1276467.RABzUYJOFJoiZMmpceiunIn2XhoeYwbwzrmAxn7A4VGxk130_provenance
;
np:hasPublicationInfo
dgn-np:NP1276467.RABzUYJOFJoiZMmpceiunIn2XhoeYwbwzrmAxn7A4VGxk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1276467.RABzUYJOFJoiZMmpceiunIn2XhoeYwbwzrmAxn7A4VGxk130_assertion
a
np:Assertion
.
dgn-np:NP1276467.RABzUYJOFJoiZMmpceiunIn2XhoeYwbwzrmAxn7A4VGxk130_provenance
a
np:Provenance
.
dgn-np:NP1276467.RABzUYJOFJoiZMmpceiunIn2XhoeYwbwzrmAxn7A4VGxk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1276467.RABzUYJOFJoiZMmpceiunIn2XhoeYwbwzrmAxn7A4VGxk130_assertion
{
miriam-gene:2778
a
ncit:C16612
.
lld:C3494506
a
ncit:C7057
.
dgn-gda:DGNae2f4033e5e2409a11c99c71274ebdb8
sio:SIO_000628
miriam-gene:2778
,
lld:C3494506
;
a
sio:SIO_001121
.
}
dgn-np:NP1276467.RABzUYJOFJoiZMmpceiunIn2XhoeYwbwzrmAxn7A4VGxk130_provenance
{
dgn-np:NP1276467.RABzUYJOFJoiZMmpceiunIn2XhoeYwbwzrmAxn7A4VGxk130_assertion
dcterms:description
"[Microdeletions that alter GNAS methylation and, thereby, diminish Gsα expression in tissues in which the paternal Gsα allele is normally silenced also cause hormone resistance, which occurs typically in the absence of AHO, a disorder termed pseudohypoparathyroidism type-Ib.]. 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:25851935
;
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:NP1276467.RABzUYJOFJoiZMmpceiunIn2XhoeYwbwzrmAxn7A4VGxk130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:24+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" .
}