@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP663631.RAUFxA1umP4ya9KrCGsxP8iFhoEXeD6HiBeApRcJY4KQw
> .
@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:NP663631.RAUFxA1umP4ya9KrCGsxP8iFhoEXeD6HiBeApRcJY4KQw130_head
{
this:
np:hasAssertion
dgn-np:NP663631.RAUFxA1umP4ya9KrCGsxP8iFhoEXeD6HiBeApRcJY4KQw130_assertion
;
np:hasProvenance
dgn-np:NP663631.RAUFxA1umP4ya9KrCGsxP8iFhoEXeD6HiBeApRcJY4KQw130_provenance
;
np:hasPublicationInfo
dgn-np:NP663631.RAUFxA1umP4ya9KrCGsxP8iFhoEXeD6HiBeApRcJY4KQw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP663631.RAUFxA1umP4ya9KrCGsxP8iFhoEXeD6HiBeApRcJY4KQw130_assertion
a
np:Assertion
.
dgn-np:NP663631.RAUFxA1umP4ya9KrCGsxP8iFhoEXeD6HiBeApRcJY4KQw130_provenance
a
np:Provenance
.
dgn-np:NP663631.RAUFxA1umP4ya9KrCGsxP8iFhoEXeD6HiBeApRcJY4KQw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP663631.RAUFxA1umP4ya9KrCGsxP8iFhoEXeD6HiBeApRcJY4KQw130_assertion
{
miriam-gene:2312
a
ncit:C16612
.
lld:C0011615
a
ncit:C7057
.
dgn-gda:DGN7fcedf13dbed2b78c20ed05fe0036d96
sio:SIO_000628
miriam-gene:2312
,
lld:C0011615
;
a
sio:SIO_001121
.
}
dgn-np:NP663631.RAUFxA1umP4ya9KrCGsxP8iFhoEXeD6HiBeApRcJY4KQw130_provenance
{
dgn-np:NP663631.RAUFxA1umP4ya9KrCGsxP8iFhoEXeD6HiBeApRcJY4KQw130_assertion
dcterms:description
"[Common loss-of-function mutations within the filaggrin gene have been demonstrated to cause ichthyosis vulgaris, one of the most common heritable disorders of cornification, and to represent major risk factors for atopic eczema and secondary allergic diseases.]. 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:18384254
;
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:NP663631.RAUFxA1umP4ya9KrCGsxP8iFhoEXeD6HiBeApRcJY4KQw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:46:46+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" .
}