@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8
> .
@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:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_head
{
this:
np:hasAssertion
dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_assertion
;
np:hasProvenance
dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_provenance
;
np:hasPublicationInfo
dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_assertion
a
np:Assertion
.
dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_provenance
a
np:Provenance
.
dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_assertion
{
miriam-gene:2705
a
ncit:C16612
.
lld:C0007959
a
ncit:C7057
.
dgn-gda:DGNe1a898250535e81a228d2b710cb9d96f
sio:SIO_000628
miriam-gene:2705
,
lld:C0007959
;
a
sio:SIO_001121
.
}
dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_provenance
{
dgn-np:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_assertion
dcterms:description
"[The X-linked form of Charcot Marie Tooth disease (CMT1X) is caused by numerous mutations in the GJB1 gene encoding the gap junction protein connexin32 (Cx32), which is expressed in both Schwann cells in the PNS and oligodendrocytes in the CNS.]. 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:20607661
;
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:NP824093.RAybC9OQuqkYASAe15TLpnOWxdXdrTjrgM9_2cYBr2PQ8130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:58+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
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}