@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP491896.RA4UFRTNHV8wieYgY9K1qLZqGxteol4fxWgtTzsOA56h8
> .
@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:NP491896.RA4UFRTNHV8wieYgY9K1qLZqGxteol4fxWgtTzsOA56h8130_head
{
this:
np:hasAssertion
dgn-np:NP491896.RA4UFRTNHV8wieYgY9K1qLZqGxteol4fxWgtTzsOA56h8130_assertion
;
np:hasProvenance
dgn-np:NP491896.RA4UFRTNHV8wieYgY9K1qLZqGxteol4fxWgtTzsOA56h8130_provenance
;
np:hasPublicationInfo
dgn-np:NP491896.RA4UFRTNHV8wieYgY9K1qLZqGxteol4fxWgtTzsOA56h8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP491896.RA4UFRTNHV8wieYgY9K1qLZqGxteol4fxWgtTzsOA56h8130_assertion
a
np:Assertion
.
dgn-np:NP491896.RA4UFRTNHV8wieYgY9K1qLZqGxteol4fxWgtTzsOA56h8130_provenance
a
np:Provenance
.
dgn-np:NP491896.RA4UFRTNHV8wieYgY9K1qLZqGxteol4fxWgtTzsOA56h8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP491896.RA4UFRTNHV8wieYgY9K1qLZqGxteol4fxWgtTzsOA56h8130_assertion
{
miriam-gene:5827
a
ncit:C16612
.
lld:C0581883
a
ncit:C7057
.
dgn-gda:DGN6da49a708c7d6da7889b2cd733e3032e
sio:SIO_000628
miriam-gene:5827
,
lld:C0581883
;
a
sio:SIO_001121
.
}
dgn-np:NP491896.RA4UFRTNHV8wieYgY9K1qLZqGxteol4fxWgtTzsOA56h8130_provenance
{
dgn-np:NP491896.RA4UFRTNHV8wieYgY9K1qLZqGxteol4fxWgtTzsOA56h8130_assertion
dcterms:description
"[Deafness in CMT patients is associated with point mutations or deletions in the transmembrane domain in the peripheral myelin gene (PMP) 22, which are in close proximity to the extracellular component of this 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:16772060
;
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:NP491896.RA4UFRTNHV8wieYgY9K1qLZqGxteol4fxWgtTzsOA56h8130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:53+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: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" .
}