@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP600366.RAgW41k05t2fKpYJKw8MNhseQwVQnjhadgC82quNHLZDM
> .
@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:NP600366.RAgW41k05t2fKpYJKw8MNhseQwVQnjhadgC82quNHLZDM130_head
{
this:
np:hasAssertion
dgn-np:NP600366.RAgW41k05t2fKpYJKw8MNhseQwVQnjhadgC82quNHLZDM130_assertion
;
np:hasProvenance
dgn-np:NP600366.RAgW41k05t2fKpYJKw8MNhseQwVQnjhadgC82quNHLZDM130_provenance
;
np:hasPublicationInfo
dgn-np:NP600366.RAgW41k05t2fKpYJKw8MNhseQwVQnjhadgC82quNHLZDM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP600366.RAgW41k05t2fKpYJKw8MNhseQwVQnjhadgC82quNHLZDM130_assertion
a
np:Assertion
.
dgn-np:NP600366.RAgW41k05t2fKpYJKw8MNhseQwVQnjhadgC82quNHLZDM130_provenance
a
np:Provenance
.
dgn-np:NP600366.RAgW41k05t2fKpYJKw8MNhseQwVQnjhadgC82quNHLZDM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP600366.RAgW41k05t2fKpYJKw8MNhseQwVQnjhadgC82quNHLZDM130_assertion
{
miriam-gene:5048
a
ncit:C16612
.
lld:C1848199
a
ncit:C7057
.
dgn-gda:DGN8da0ecf8056fc09bbab5e613e6cf8dd0
sio:SIO_000628
miriam-gene:5048
,
lld:C1848199
;
a
sio:SIO_001121
.
}
dgn-np:NP600366.RAgW41k05t2fKpYJKw8MNhseQwVQnjhadgC82quNHLZDM130_provenance
{
dgn-np:NP600366.RAgW41k05t2fKpYJKw8MNhseQwVQnjhadgC82quNHLZDM130_assertion
dcterms:description
"[LIS1 was the first gene cloned that was important for neuronal migration in any organism, and heterozygous mutations or deletions of LIS1 are found in the majority of patients with lissencephaly, while DCX mutations were found in males with X-linked lissencephaly.]. 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:20688183
;
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:NP600366.RAgW41k05t2fKpYJKw8MNhseQwVQnjhadgC82quNHLZDM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:00+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" .
}