@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM
> .
@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:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_head
{
this:
np:hasAssertion
dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_assertion
;
np:hasProvenance
dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_provenance
;
np:hasPublicationInfo
dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_assertion
a
np:Assertion
.
dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_provenance
a
np:Provenance
.
dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_assertion
{
miriam-gene:5728
a
ncit:C16612
.
lld:C0175704
a
ncit:C7057
.
dgn-gda:DGNedf8db5f7ca0c3ed686ad1561e455c63
sio:SIO_000628
miriam-gene:5728
,
lld:C0175704
;
a
sio:SIO_001121
.
}
dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_provenance
{
dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_assertion
dcterms:description
"[This report provides clinical evidence that both BRR and CD are closely related and confirms the PTEN gene mutation in BRR and CD patients segregating in the same family, thus confirming the genetic linkage between the two genodermatoses.]. 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:11685670
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP27558.RAHHcjNmVxM996TK0BllxHOaJeyG50Ujaa5mc7ES09hkM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:11+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" .
}