@prefix dct: .
@prefix ns1: .
@prefix this: .
@prefix rdfs: .
@prefix xsd: .
@prefix sio: .
@prefix ncit: .
@prefix lld: .
@prefix miriam-gene: .
@prefix miriam-pubmed: .
@prefix eco: .
@prefix wi: .
@prefix prov: .
@prefix pav: .
@prefix prv: .
@prefix np: .
@prefix dgn-gda: .
@prefix dgn-void: .
ns1:NP7123.RACrK6oPHeo0tTnyxizgpP3inPjMjMaTWUa1mfqdQK3x8130_head {
this: np:hasAssertion ns1:NP7123.RACrK6oPHeo0tTnyxizgpP3inPjMjMaTWUa1mfqdQK3x8130_assertion;
np:hasProvenance ns1:NP7123.RACrK6oPHeo0tTnyxizgpP3inPjMjMaTWUa1mfqdQK3x8130_provenance;
np:hasPublicationInfo ns1:NP7123.RACrK6oPHeo0tTnyxizgpP3inPjMjMaTWUa1mfqdQK3x8130_publicationInfo;
a np:Nanopublication .
ns1:NP7123.RACrK6oPHeo0tTnyxizgpP3inPjMjMaTWUa1mfqdQK3x8130_assertion a np:Assertion .
ns1:NP7123.RACrK6oPHeo0tTnyxizgpP3inPjMjMaTWUa1mfqdQK3x8130_provenance a np:Provenance .
ns1:NP7123.RACrK6oPHeo0tTnyxizgpP3inPjMjMaTWUa1mfqdQK3x8130_publicationInfo a np:PublicationInfo .
}
ns1:NP7123.RACrK6oPHeo0tTnyxizgpP3inPjMjMaTWUa1mfqdQK3x8130_assertion {
miriam-gene:3868 a ncit:C16612 .
lld:C1706595 a ncit:C7057 .
dgn-gda:DGN91ec353fbbd890a43937fda9aae9714b sio:SIO_000628 miriam-gene:3868, lld:C1706595;
a sio:SIO_001122 .
}
ns1:NP7123.RACrK6oPHeo0tTnyxizgpP3inPjMjMaTWUa1mfqdQK3x8130_provenance {
ns1:NP7123.RACrK6oPHeo0tTnyxizgpP3inPjMjMaTWUa1mfqdQK3x8130_assertion dct:description
"[Mutations in the KRT6A or KRT16 gene cause pachyonychia congenita type 1 (PC-1), while mutations in KRT16 or KRT6C underlie focal palmoplantar keratoderma (FPPK).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en;
wi:evidence dgn-void:source_evidence_curated;
sio:SIO_000772 miriam-pubmed:22668561;
prov:wasDerivedFrom dgn-void:uniprot-2016;
prov:wasGeneratedBy eco:ECO_0000218 .
dgn-void:source_evidence_curated a eco:ECO_0000205;
rdfs:comment "Gene-disease associations manually curated."@en;
rdfs:label "DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016 pav:importedOn "2016-01-25"^^xsd:date .
}
ns1:NP7123.RACrK6oPHeo0tTnyxizgpP3inPjMjMaTWUa1mfqdQK3x8130_publicationInfo {
this: dct:created "2016-05-13T12:41:53+02:00"^^xsd:dateTime;
dct:rights ;
dct:rightsHolder dgn-void:IBIGroup;
dct:subject sio:SIO_000983;
prv:usedData dgn-void:disgenetv3.0rdf;
pav:authoredBy , ,
, , ;
pav:createdBy ;
pav:version "v4.0.0.0" .
dgn-void:disgenetv3.0rdf pav:version "v4.0.0" .
}