@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP421540.RAWcYx1LYjvWD-FA4cDsWIp8ygqqKZDcOfV_PE0qIESRc
> .
@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:NP421540.RAWcYx1LYjvWD-FA4cDsWIp8ygqqKZDcOfV_PE0qIESRc130_head
{
this:
np:hasAssertion
dgn-np:NP421540.RAWcYx1LYjvWD-FA4cDsWIp8ygqqKZDcOfV_PE0qIESRc130_assertion
;
np:hasProvenance
dgn-np:NP421540.RAWcYx1LYjvWD-FA4cDsWIp8ygqqKZDcOfV_PE0qIESRc130_provenance
;
np:hasPublicationInfo
dgn-np:NP421540.RAWcYx1LYjvWD-FA4cDsWIp8ygqqKZDcOfV_PE0qIESRc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP421540.RAWcYx1LYjvWD-FA4cDsWIp8ygqqKZDcOfV_PE0qIESRc130_assertion
a
np:Assertion
.
dgn-np:NP421540.RAWcYx1LYjvWD-FA4cDsWIp8ygqqKZDcOfV_PE0qIESRc130_provenance
a
np:Provenance
.
dgn-np:NP421540.RAWcYx1LYjvWD-FA4cDsWIp8ygqqKZDcOfV_PE0qIESRc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP421540.RAWcYx1LYjvWD-FA4cDsWIp8ygqqKZDcOfV_PE0qIESRc130_assertion
{
miriam-gene:5979
a
ncit:C16612
.
lld:C0027765
a
ncit:C7057
.
dgn-gda:DGN1fc1dc7669735b30866b4c98f51a8dd9
sio:SIO_000628
miriam-gene:5979
,
lld:C0027765
;
a
sio:SIO_001121
.
}
dgn-np:NP421540.RAWcYx1LYjvWD-FA4cDsWIp8ygqqKZDcOfV_PE0qIESRc130_provenance
{
dgn-np:NP421540.RAWcYx1LYjvWD-FA4cDsWIp8ygqqKZDcOfV_PE0qIESRc130_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-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:NP421540.RAWcYx1LYjvWD-FA4cDsWIp8ygqqKZDcOfV_PE0qIESRc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:10+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" .
}