@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP3627.RALJOU_tsPjahRDPI7vIqig_uzbj1dkgyWM9ztxCoMdoA
> .
@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:NP3627.RALJOU_tsPjahRDPI7vIqig_uzbj1dkgyWM9ztxCoMdoA130_head
{
this:
np:hasAssertion
dgn-np:NP3627.RALJOU_tsPjahRDPI7vIqig_uzbj1dkgyWM9ztxCoMdoA130_assertion
;
np:hasProvenance
dgn-np:NP3627.RALJOU_tsPjahRDPI7vIqig_uzbj1dkgyWM9ztxCoMdoA130_provenance
;
np:hasPublicationInfo
dgn-np:NP3627.RALJOU_tsPjahRDPI7vIqig_uzbj1dkgyWM9ztxCoMdoA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP3627.RALJOU_tsPjahRDPI7vIqig_uzbj1dkgyWM9ztxCoMdoA130_assertion
a
np:Assertion
.
dgn-np:NP3627.RALJOU_tsPjahRDPI7vIqig_uzbj1dkgyWM9ztxCoMdoA130_provenance
a
np:Provenance
.
dgn-np:NP3627.RALJOU_tsPjahRDPI7vIqig_uzbj1dkgyWM9ztxCoMdoA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP3627.RALJOU_tsPjahRDPI7vIqig_uzbj1dkgyWM9ztxCoMdoA130_assertion
{
miriam-gene:3849
a
ncit:C16612
.
lld:C0432306
a
ncit:C7057
.
dgn-gda:DGN4d0c7c2e56710d29b4eb3346b9a20e92
sio:SIO_000628
miriam-gene:3849
,
lld:C0432306
;
a
sio:SIO_001122
.
}
dgn-np:NP3627.RALJOU_tsPjahRDPI7vIqig_uzbj1dkgyWM9ztxCoMdoA130_provenance
{
dgn-np:NP3627.RALJOU_tsPjahRDPI7vIqig_uzbj1dkgyWM9ztxCoMdoA130_assertion
dcterms:description
"[In the current literature, 19 IBS families with keratin 2e (K2e) mutations have been reported, despite only five IBS families having been reported before the first identification of K2e mutation in 1994.]. 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:15949009
;
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:NP3627.RALJOU_tsPjahRDPI7vIqig_uzbj1dkgyWM9ztxCoMdoA130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:31:59+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" .
}