@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP557122.RALzWbc1VSfOZGv1kwPM4BW8wAXbSnAa6ylr95l2R97yU
> .
@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:NP557122.RALzWbc1VSfOZGv1kwPM4BW8wAXbSnAa6ylr95l2R97yU130_head
{
this:
np:hasAssertion
dgn-np:NP557122.RALzWbc1VSfOZGv1kwPM4BW8wAXbSnAa6ylr95l2R97yU130_assertion
;
np:hasProvenance
dgn-np:NP557122.RALzWbc1VSfOZGv1kwPM4BW8wAXbSnAa6ylr95l2R97yU130_provenance
;
np:hasPublicationInfo
dgn-np:NP557122.RALzWbc1VSfOZGv1kwPM4BW8wAXbSnAa6ylr95l2R97yU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP557122.RALzWbc1VSfOZGv1kwPM4BW8wAXbSnAa6ylr95l2R97yU130_assertion
a
np:Assertion
.
dgn-np:NP557122.RALzWbc1VSfOZGv1kwPM4BW8wAXbSnAa6ylr95l2R97yU130_provenance
a
np:Provenance
.
dgn-np:NP557122.RALzWbc1VSfOZGv1kwPM4BW8wAXbSnAa6ylr95l2R97yU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP557122.RALzWbc1VSfOZGv1kwPM4BW8wAXbSnAa6ylr95l2R97yU130_assertion
{
miriam-gene:10054
a
ncit:C16612
.
lld:C0037769
a
ncit:C7057
.
dgn-gda:DGNb3c4bd509357bd665fe5fa87a040e2bd
sio:SIO_000628
miriam-gene:10054
,
lld:C0037769
;
a
sio:SIO_001121
.
}
dgn-np:NP557122.RALzWbc1VSfOZGv1kwPM4BW8wAXbSnAa6ylr95l2R97yU130_provenance
{
dgn-np:NP557122.RALzWbc1VSfOZGv1kwPM4BW8wAXbSnAa6ylr95l2R97yU130_assertion
dcterms:description
"[Lissencephaly caused by LIS1 or DCX mutation frequently results in West syndrome, while lissencephaly due to ARX mutation is associated with the most severe form of epilepsy but never results in West syndrome nor infantile spasms.]. 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:16806828
;
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:NP557122.RALzWbc1VSfOZGv1kwPM4BW8wAXbSnAa6ylr95l2R97yU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:57+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" .
}