@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP772424.RAyaCGIflK8Pti8BgmrM9qqPnHjA1lfUpUiD_iyQ0lm_M
> .
@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:NP772424.RAyaCGIflK8Pti8BgmrM9qqPnHjA1lfUpUiD_iyQ0lm_M130_head
{
this:
np:hasAssertion
dgn-np:NP772424.RAyaCGIflK8Pti8BgmrM9qqPnHjA1lfUpUiD_iyQ0lm_M130_assertion
;
np:hasProvenance
dgn-np:NP772424.RAyaCGIflK8Pti8BgmrM9qqPnHjA1lfUpUiD_iyQ0lm_M130_provenance
;
np:hasPublicationInfo
dgn-np:NP772424.RAyaCGIflK8Pti8BgmrM9qqPnHjA1lfUpUiD_iyQ0lm_M130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP772424.RAyaCGIflK8Pti8BgmrM9qqPnHjA1lfUpUiD_iyQ0lm_M130_assertion
a
np:Assertion
.
dgn-np:NP772424.RAyaCGIflK8Pti8BgmrM9qqPnHjA1lfUpUiD_iyQ0lm_M130_provenance
a
np:Provenance
.
dgn-np:NP772424.RAyaCGIflK8Pti8BgmrM9qqPnHjA1lfUpUiD_iyQ0lm_M130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP772424.RAyaCGIflK8Pti8BgmrM9qqPnHjA1lfUpUiD_iyQ0lm_M130_assertion
{
miriam-gene:2260
a
ncit:C16612
.
lld:C0037274
a
ncit:C7057
.
dgn-gda:DGNf5f7d1d958521b89efa4f1e5d196018b
sio:SIO_000628
miriam-gene:2260
,
lld:C0037274
;
a
sio:SIO_001121
.
}
dgn-np:NP772424.RAyaCGIflK8Pti8BgmrM9qqPnHjA1lfUpUiD_iyQ0lm_M130_provenance
{
dgn-np:NP772424.RAyaCGIflK8Pti8BgmrM9qqPnHjA1lfUpUiD_iyQ0lm_M130_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-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:NP772424.RAyaCGIflK8Pti8BgmrM9qqPnHjA1lfUpUiD_iyQ0lm_M130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:47+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" .
}