@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP918074.RApWy8yTp5g9QjDLx4y5TzXoij66eipCJ1Z1a6skiOc_w
> .
@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:NP918074.RApWy8yTp5g9QjDLx4y5TzXoij66eipCJ1Z1a6skiOc_w130_head
{
this:
np:hasAssertion
dgn-np:NP918074.RApWy8yTp5g9QjDLx4y5TzXoij66eipCJ1Z1a6skiOc_w130_assertion
;
np:hasProvenance
dgn-np:NP918074.RApWy8yTp5g9QjDLx4y5TzXoij66eipCJ1Z1a6skiOc_w130_provenance
;
np:hasPublicationInfo
dgn-np:NP918074.RApWy8yTp5g9QjDLx4y5TzXoij66eipCJ1Z1a6skiOc_w130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP918074.RApWy8yTp5g9QjDLx4y5TzXoij66eipCJ1Z1a6skiOc_w130_assertion
a
np:Assertion
.
dgn-np:NP918074.RApWy8yTp5g9QjDLx4y5TzXoij66eipCJ1Z1a6skiOc_w130_provenance
a
np:Provenance
.
dgn-np:NP918074.RApWy8yTp5g9QjDLx4y5TzXoij66eipCJ1Z1a6skiOc_w130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP918074.RApWy8yTp5g9QjDLx4y5TzXoij66eipCJ1Z1a6skiOc_w130_assertion
{
miriam-gene:3868
a
ncit:C16612
.
lld:C0221260
a
ncit:C7057
.
dgn-gda:DGNdb2e8c8bccabad49157a39f0c830c24f
sio:SIO_000628
miriam-gene:3868
,
lld:C0221260
;
a
sio:SIO_001121
.
}
dgn-np:NP918074.RApWy8yTp5g9QjDLx4y5TzXoij66eipCJ1Z1a6skiOc_w130_provenance
{
dgn-np:NP918074.RApWy8yTp5g9QjDLx4y5TzXoij66eipCJ1Z1a6skiOc_w130_assertion
dcterms:description
"[Pachyonychia congenita (PC) is an autosomal dominant, very rare keratin disorder caused by mutations in any of at least four genes (KRT6A, KRT6B, KRT16 or KRT17), which can lead to hypertrophic nail dystrophy and palmoplantar keratoderma, among other manifestations.]. 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:22098151
;
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:NP918074.RApWy8yTp5g9QjDLx4y5TzXoij66eipCJ1Z1a6skiOc_w130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:23+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" .
}