@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP734169.RAaHBEZq7lSQW0dehT8uJ684egPF_PzzU-jNCkhNQRpfw
> .
@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:NP734169.RAaHBEZq7lSQW0dehT8uJ684egPF_PzzU-jNCkhNQRpfw130_head
{
this:
np:hasAssertion
dgn-np:NP734169.RAaHBEZq7lSQW0dehT8uJ684egPF_PzzU-jNCkhNQRpfw130_assertion
;
np:hasProvenance
dgn-np:NP734169.RAaHBEZq7lSQW0dehT8uJ684egPF_PzzU-jNCkhNQRpfw130_provenance
;
np:hasPublicationInfo
dgn-np:NP734169.RAaHBEZq7lSQW0dehT8uJ684egPF_PzzU-jNCkhNQRpfw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP734169.RAaHBEZq7lSQW0dehT8uJ684egPF_PzzU-jNCkhNQRpfw130_assertion
a
np:Assertion
.
dgn-np:NP734169.RAaHBEZq7lSQW0dehT8uJ684egPF_PzzU-jNCkhNQRpfw130_provenance
a
np:Provenance
.
dgn-np:NP734169.RAaHBEZq7lSQW0dehT8uJ684egPF_PzzU-jNCkhNQRpfw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP734169.RAaHBEZq7lSQW0dehT8uJ684egPF_PzzU-jNCkhNQRpfw130_assertion
{
miriam-gene:2312
a
ncit:C16612
.
lld:C0079584
a
ncit:C7057
.
dgn-gda:DGNddc40a60bd98c843a4f077a4eff604f8
sio:SIO_000628
miriam-gene:2312
,
lld:C0079584
;
a
sio:SIO_001121
.
}
dgn-np:NP734169.RAaHBEZq7lSQW0dehT8uJ684egPF_PzzU-jNCkhNQRpfw130_provenance
{
dgn-np:NP734169.RAaHBEZq7lSQW0dehT8uJ684egPF_PzzU-jNCkhNQRpfw130_assertion
dcterms:description
"[Recently, loss-of-function mutations in FLG, the human gene encoding profilaggrin and filaggrin, have been identified as the cause of the common skin condition ichthyosis vulgaris (which is characterised by dry, scaly skin).]. 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:19386895
;
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:NP734169.RAaHBEZq7lSQW0dehT8uJ684egPF_PzzU-jNCkhNQRpfw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:18+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" .
}