@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP632370.RAZ7TDz2RxJOVfp6OQ3RpcZQ01yHUrKx3E3ikt0NKbeT8
> .
@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:NP632370.RAZ7TDz2RxJOVfp6OQ3RpcZQ01yHUrKx3E3ikt0NKbeT8130_head
{
this:
np:hasAssertion
dgn-np:NP632370.RAZ7TDz2RxJOVfp6OQ3RpcZQ01yHUrKx3E3ikt0NKbeT8130_assertion
;
np:hasProvenance
dgn-np:NP632370.RAZ7TDz2RxJOVfp6OQ3RpcZQ01yHUrKx3E3ikt0NKbeT8130_provenance
;
np:hasPublicationInfo
dgn-np:NP632370.RAZ7TDz2RxJOVfp6OQ3RpcZQ01yHUrKx3E3ikt0NKbeT8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP632370.RAZ7TDz2RxJOVfp6OQ3RpcZQ01yHUrKx3E3ikt0NKbeT8130_assertion
a
np:Assertion
.
dgn-np:NP632370.RAZ7TDz2RxJOVfp6OQ3RpcZQ01yHUrKx3E3ikt0NKbeT8130_provenance
a
np:Provenance
.
dgn-np:NP632370.RAZ7TDz2RxJOVfp6OQ3RpcZQ01yHUrKx3E3ikt0NKbeT8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP632370.RAZ7TDz2RxJOVfp6OQ3RpcZQ01yHUrKx3E3ikt0NKbeT8130_assertion
{
miriam-gene:5376
a
ncit:C16612
.
lld:C0027888
a
ncit:C7057
.
dgn-gda:DGN34325261762b5f18b6e3405e3ac84cfc
sio:SIO_000628
miriam-gene:5376
,
lld:C0027888
;
a
sio:SIO_001121
.
}
dgn-np:NP632370.RAZ7TDz2RxJOVfp6OQ3RpcZQ01yHUrKx3E3ikt0NKbeT8130_provenance
{
dgn-np:NP632370.RAZ7TDz2RxJOVfp6OQ3RpcZQ01yHUrKx3E3ikt0NKbeT8130_assertion
dcterms:description
"[A moderate increase in the number of PMP22 genes led to hypomyelination comparable to CMT1A, whereas high copy numbers of transgenic PMP22 resulted in phenotypes resembling more severe forms of hereditary motor and sensory neuropathies.]. 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:10586249
;
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:NP632370.RAZ7TDz2RxJOVfp6OQ3RpcZQ01yHUrKx3E3ikt0NKbeT8130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:43:58+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" .
}