@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP557590.RAc1jLkzrMnKI1eF29__xOiub8weImkVfNHsgZoQO1wkM
> .
@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:NP557590.RAc1jLkzrMnKI1eF29__xOiub8weImkVfNHsgZoQO1wkM130_head
{
this:
np:hasAssertion
dgn-np:NP557590.RAc1jLkzrMnKI1eF29__xOiub8weImkVfNHsgZoQO1wkM130_assertion
;
np:hasProvenance
dgn-np:NP557590.RAc1jLkzrMnKI1eF29__xOiub8weImkVfNHsgZoQO1wkM130_provenance
;
np:hasPublicationInfo
dgn-np:NP557590.RAc1jLkzrMnKI1eF29__xOiub8weImkVfNHsgZoQO1wkM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP557590.RAc1jLkzrMnKI1eF29__xOiub8weImkVfNHsgZoQO1wkM130_assertion
a
np:Assertion
.
dgn-np:NP557590.RAc1jLkzrMnKI1eF29__xOiub8weImkVfNHsgZoQO1wkM130_provenance
a
np:Provenance
.
dgn-np:NP557590.RAc1jLkzrMnKI1eF29__xOiub8weImkVfNHsgZoQO1wkM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP557590.RAc1jLkzrMnKI1eF29__xOiub8weImkVfNHsgZoQO1wkM130_assertion
{
miriam-gene:2312
a
ncit:C16612
.
lld:C0037274
a
ncit:C7057
.
dgn-gda:DGN9525985f19e1c0f2d65817af2406ce8e
sio:SIO_000628
miriam-gene:2312
,
lld:C0037274
;
a
sio:SIO_001122
.
}
dgn-np:NP557590.RAc1jLkzrMnKI1eF29__xOiub8weImkVfNHsgZoQO1wkM130_provenance
{
dgn-np:NP557590.RAc1jLkzrMnKI1eF29__xOiub8weImkVfNHsgZoQO1wkM130_assertion
dcterms:description
"[Recently, 2 loss-of-function mutations (R501X and 2282derl4) in the filaggrin gene (FLG) that cause ichthyosis vulgaris, one of the most common inherited skin disorders of keratinization, have been reported to be strong predisposing factors for AD.]. 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:16815158
;
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:NP557590.RAc1jLkzrMnKI1eF29__xOiub8weImkVfNHsgZoQO1wkM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:57+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" .
}