@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP415667.RAKmRy1rqIZL6HLAEDvIHDWZTQrKh3MR1IhjVl-mqZxLM
> .
@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:NP415667.RAKmRy1rqIZL6HLAEDvIHDWZTQrKh3MR1IhjVl-mqZxLM130_head
{
this:
np:hasAssertion
dgn-np:NP415667.RAKmRy1rqIZL6HLAEDvIHDWZTQrKh3MR1IhjVl-mqZxLM130_assertion
;
np:hasProvenance
dgn-np:NP415667.RAKmRy1rqIZL6HLAEDvIHDWZTQrKh3MR1IhjVl-mqZxLM130_provenance
;
np:hasPublicationInfo
dgn-np:NP415667.RAKmRy1rqIZL6HLAEDvIHDWZTQrKh3MR1IhjVl-mqZxLM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP415667.RAKmRy1rqIZL6HLAEDvIHDWZTQrKh3MR1IhjVl-mqZxLM130_assertion
a
np:Assertion
.
dgn-np:NP415667.RAKmRy1rqIZL6HLAEDvIHDWZTQrKh3MR1IhjVl-mqZxLM130_provenance
a
np:Provenance
.
dgn-np:NP415667.RAKmRy1rqIZL6HLAEDvIHDWZTQrKh3MR1IhjVl-mqZxLM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP415667.RAKmRy1rqIZL6HLAEDvIHDWZTQrKh3MR1IhjVl-mqZxLM130_assertion
{
miriam-gene:6663
a
ncit:C16612
.
lld:C0019569
a
ncit:C7057
.
dgn-gda:DGN685d2b609caf2cb52c1fcc7e3e668fbf
sio:SIO_000628
miriam-gene:6663
,
lld:C0019569
;
a
sio:SIO_001121
.
}
dgn-np:NP415667.RAKmRy1rqIZL6HLAEDvIHDWZTQrKh3MR1IhjVl-mqZxLM130_provenance
{
dgn-np:NP415667.RAKmRy1rqIZL6HLAEDvIHDWZTQrKh3MR1IhjVl-mqZxLM130_assertion
dcterms:description
"[While the lack of normal SOX10 mediated activation of RET transcription may lead to intestinal aganglionosis, overexpression of genes coding for structural myelin proteins such as P0 due to mutant SOX10 may explain the dysmyelination phenotype observed in the patients with an additional neurological disorder.]. 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:14523991
;
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:NP415667.RAKmRy1rqIZL6HLAEDvIHDWZTQrKh3MR1IhjVl-mqZxLM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:53+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: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" .
}