@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP529276.RAs2olqSc8w1gY9wJBhKOyEVIWRpLovOBPRVSWM2Kt0G4
> .
@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/v3.0.0/void/
> .
dgn-np:NP529276.RAs2olqSc8w1gY9wJBhKOyEVIWRpLovOBPRVSWM2Kt0G4130_head
{
this:
np:hasAssertion
dgn-np:NP529276.RAs2olqSc8w1gY9wJBhKOyEVIWRpLovOBPRVSWM2Kt0G4130_assertion
;
np:hasProvenance
dgn-np:NP529276.RAs2olqSc8w1gY9wJBhKOyEVIWRpLovOBPRVSWM2Kt0G4130_provenance
;
np:hasPublicationInfo
dgn-np:NP529276.RAs2olqSc8w1gY9wJBhKOyEVIWRpLovOBPRVSWM2Kt0G4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP529276.RAs2olqSc8w1gY9wJBhKOyEVIWRpLovOBPRVSWM2Kt0G4130_assertion
a
np:Assertion
.
dgn-np:NP529276.RAs2olqSc8w1gY9wJBhKOyEVIWRpLovOBPRVSWM2Kt0G4130_provenance
a
np:Provenance
.
dgn-np:NP529276.RAs2olqSc8w1gY9wJBhKOyEVIWRpLovOBPRVSWM2Kt0G4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP529276.RAs2olqSc8w1gY9wJBhKOyEVIWRpLovOBPRVSWM2Kt0G4130_assertion
{
miriam-gene:3872
a
ncit:C16612
.
lld:C0022596
a
ncit:C7057
.
dgn-gda:DGN8ab42f1c3cac4759f453d4b22ef10ca3
sio:SIO_000628
miriam-gene:3872
,
lld:C0022596
;
a
sio:SIO_001121
.
}
dgn-np:NP529276.RAs2olqSc8w1gY9wJBhKOyEVIWRpLovOBPRVSWM2Kt0G4130_provenance
{
dgn-np:NP529276.RAs2olqSc8w1gY9wJBhKOyEVIWRpLovOBPRVSWM2Kt0G4130_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-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP529276.RAs2olqSc8w1gY9wJBhKOyEVIWRpLovOBPRVSWM2Kt0G4130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:42:53+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}