@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP915977.RAQrVTEY8FvPhQs84-D8RlyY-GVKtclAMPvVe06jim0tU
> .
@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:NP915977.RAQrVTEY8FvPhQs84-D8RlyY-GVKtclAMPvVe06jim0tU130_head
{
this:
np:hasAssertion
dgn-np:NP915977.RAQrVTEY8FvPhQs84-D8RlyY-GVKtclAMPvVe06jim0tU130_assertion
;
np:hasProvenance
dgn-np:NP915977.RAQrVTEY8FvPhQs84-D8RlyY-GVKtclAMPvVe06jim0tU130_provenance
;
np:hasPublicationInfo
dgn-np:NP915977.RAQrVTEY8FvPhQs84-D8RlyY-GVKtclAMPvVe06jim0tU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP915977.RAQrVTEY8FvPhQs84-D8RlyY-GVKtclAMPvVe06jim0tU130_assertion
a
np:Assertion
.
dgn-np:NP915977.RAQrVTEY8FvPhQs84-D8RlyY-GVKtclAMPvVe06jim0tU130_provenance
a
np:Provenance
.
dgn-np:NP915977.RAQrVTEY8FvPhQs84-D8RlyY-GVKtclAMPvVe06jim0tU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP915977.RAQrVTEY8FvPhQs84-D8RlyY-GVKtclAMPvVe06jim0tU130_assertion
{
miriam-gene:127534
a
ncit:C16612
.
lld:C0265961
a
ncit:C7057
.
dgn-gda:DGNa7901f9517a64a4083dcef94421f2dfe
sio:SIO_000628
miriam-gene:127534
,
lld:C0265961
;
a
sio:SIO_001121
.
}
dgn-np:NP915977.RAQrVTEY8FvPhQs84-D8RlyY-GVKtclAMPvVe06jim0tU130_provenance
{
dgn-np:NP915977.RAQrVTEY8FvPhQs84-D8RlyY-GVKtclAMPvVe06jim0tU130_assertion
dcterms:description
"[Erythrokeratoderma variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the genes GJB3 and GJB4, which code for connexin (Cx)31 and Cx30.3, respectively, and contribute to the formation of functional gap junctions in the epidermis.]. 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:21564177
;
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:NP915977.RAQrVTEY8FvPhQs84-D8RlyY-GVKtclAMPvVe06jim0tU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:22+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" .
}