@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP6305.RALLn4ytlMPnjPDZEvIgoWg3btqoFwyQtiWZVoDMyc5rg
> .
@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:NP6305.RALLn4ytlMPnjPDZEvIgoWg3btqoFwyQtiWZVoDMyc5rg130_head
{
this:
np:hasAssertion
dgn-np:NP6305.RALLn4ytlMPnjPDZEvIgoWg3btqoFwyQtiWZVoDMyc5rg130_assertion
;
np:hasProvenance
dgn-np:NP6305.RALLn4ytlMPnjPDZEvIgoWg3btqoFwyQtiWZVoDMyc5rg130_provenance
;
np:hasPublicationInfo
dgn-np:NP6305.RALLn4ytlMPnjPDZEvIgoWg3btqoFwyQtiWZVoDMyc5rg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP6305.RALLn4ytlMPnjPDZEvIgoWg3btqoFwyQtiWZVoDMyc5rg130_assertion
a
np:Assertion
.
dgn-np:NP6305.RALLn4ytlMPnjPDZEvIgoWg3btqoFwyQtiWZVoDMyc5rg130_provenance
a
np:Provenance
.
dgn-np:NP6305.RALLn4ytlMPnjPDZEvIgoWg3btqoFwyQtiWZVoDMyc5rg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP6305.RALLn4ytlMPnjPDZEvIgoWg3btqoFwyQtiWZVoDMyc5rg130_assertion
{
miriam-gene:6663
a
ncit:C16612
.
lld:C1836727
a
ncit:C7057
.
dgn-gda:DGNc4038a7aaf313b1df0fbc35c20ef435b
sio:SIO_000628
miriam-gene:6663
,
lld:C1836727
;
a
sio:SIO_001122
.
}
dgn-np:NP6305.RALLn4ytlMPnjPDZEvIgoWg3btqoFwyQtiWZVoDMyc5rg130_provenance
{
dgn-np:NP6305.RALLn4ytlMPnjPDZEvIgoWg3btqoFwyQtiWZVoDMyc5rg130_assertion
dcterms:description
"[About 50 heterozygous SOX10 mutations have been described in patients presenting with WS2 or WS4, with or without myelination defects of the peripheral and central nervous system (PCWH, Peripheral demyelinating neuropathy-Central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease, or PCW, PCWH without HD).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:21898658
;
prov:wasDerivedFrom
dgn-void:uniprot-20130724
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20130724
pav:importedOn
"2013-07-24"^^
xsd:date
.
}
dgn-np:NP6305.RALLn4ytlMPnjPDZEvIgoWg3btqoFwyQtiWZVoDMyc5rg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:00+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" .
}