@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ
> .
@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 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:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_head
{
this:
np:hasAssertion
dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_assertion
;
np:hasProvenance
dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance
;
np:hasPublicationInfo
dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_assertion
a
np:Assertion
.
dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance
a
np:Provenance
.
dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_assertion
{
miriam-gene:79651
a
ncit:C16612
.
lld:C1835664
a
ncit:C7057
.
dgn-gda:DGN307863715323fef66e2b097ccbecc6d1
sio:SIO_000628
miriam-gene:79651
,
lld:C1835664
;
a
sio:SIO_001122
.
}
dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_provenance
{
dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_assertion
dcterms:description
"[Using a targeted capture array and next-generation sequencing, we have now identified missense mutations (c.557T>C [p.Ile186Thr] and c.566C>T [p.Pro189Leu] in RHBDF2, which encodes the inactive rhomboid protease RHBDF2 (also known as iRhom2), as the underlying cause of TOC.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:22265016
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP5529.RAAZPgjiviqb6oNDgn5trHaUYjbfmaEET_QvnN1dA4NzQ130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:00+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" .
}