@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1186886.RAIKPJdazaBdHmYpKBCH2c0bejBxul00vdiROX7xQydAE
> .
@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:NP1186886.RAIKPJdazaBdHmYpKBCH2c0bejBxul00vdiROX7xQydAE130_head
{
this:
np:hasAssertion
dgn-np:NP1186886.RAIKPJdazaBdHmYpKBCH2c0bejBxul00vdiROX7xQydAE130_assertion
;
np:hasProvenance
dgn-np:NP1186886.RAIKPJdazaBdHmYpKBCH2c0bejBxul00vdiROX7xQydAE130_provenance
;
np:hasPublicationInfo
dgn-np:NP1186886.RAIKPJdazaBdHmYpKBCH2c0bejBxul00vdiROX7xQydAE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1186886.RAIKPJdazaBdHmYpKBCH2c0bejBxul00vdiROX7xQydAE130_assertion
a
np:Assertion
.
dgn-np:NP1186886.RAIKPJdazaBdHmYpKBCH2c0bejBxul00vdiROX7xQydAE130_provenance
a
np:Provenance
.
dgn-np:NP1186886.RAIKPJdazaBdHmYpKBCH2c0bejBxul00vdiROX7xQydAE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1186886.RAIKPJdazaBdHmYpKBCH2c0bejBxul00vdiROX7xQydAE130_assertion
{
miriam-gene:10801
a
ncit:C16612
.
lld:C1834304
a
ncit:C7057
.
dgn-gda:DGN332142b921cb655b9365d51f1dd108d4
sio:SIO_000628
miriam-gene:10801
,
lld:C1834304
;
a
sio:SIO_001121
.
}
dgn-np:NP1186886.RAIKPJdazaBdHmYpKBCH2c0bejBxul00vdiROX7xQydAE130_provenance
{
dgn-np:NP1186886.RAIKPJdazaBdHmYpKBCH2c0bejBxul00vdiROX7xQydAE130_assertion
dcterms:description
"[Disorders with a known molecular basis falling within this group include hereditary neuropathy with liability to pressure palsies (HNPP) due to the deletion of the PMP22 gene or to mutations in this same gene, and hereditary neuralgic amyotrophy (HNA) caused by mutations in the SEPT9 gene.]. 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:24878226
;
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:NP1186886.RAIKPJdazaBdHmYpKBCH2c0bejBxul00vdiROX7xQydAE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:44+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" .
}