@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP6318.RAmfIyyNxfmDpXaoOHtJuikYYa0xss1pnJ3Dr6kIc0rQA
> .
@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 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:NP6318.RAmfIyyNxfmDpXaoOHtJuikYYa0xss1pnJ3Dr6kIc0rQA130_head
{
this:
np:hasAssertion
dgn-np:NP6318.RAmfIyyNxfmDpXaoOHtJuikYYa0xss1pnJ3Dr6kIc0rQA130_assertion
;
np:hasProvenance
dgn-np:NP6318.RAmfIyyNxfmDpXaoOHtJuikYYa0xss1pnJ3Dr6kIc0rQA130_provenance
;
np:hasPublicationInfo
dgn-np:NP6318.RAmfIyyNxfmDpXaoOHtJuikYYa0xss1pnJ3Dr6kIc0rQA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP6318.RAmfIyyNxfmDpXaoOHtJuikYYa0xss1pnJ3Dr6kIc0rQA130_assertion
a
np:Assertion
.
dgn-np:NP6318.RAmfIyyNxfmDpXaoOHtJuikYYa0xss1pnJ3Dr6kIc0rQA130_provenance
a
np:Provenance
.
dgn-np:NP6318.RAmfIyyNxfmDpXaoOHtJuikYYa0xss1pnJ3Dr6kIc0rQA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP6318.RAmfIyyNxfmDpXaoOHtJuikYYa0xss1pnJ3Dr6kIc0rQA130_assertion
{
miriam-gene:6683
a
ncit:C16612
.
lld:C1866855
a
ncit:C7057
.
dgn-gda:DGN557d6e47e28189842ac5c75ff39d1f9c
sio:SIO_000628
miriam-gene:6683
,
lld:C1866855
;
a
sio:SIO_001122
.
}
dgn-np:NP6318.RAmfIyyNxfmDpXaoOHtJuikYYa0xss1pnJ3Dr6kIc0rQA130_provenance
{
dgn-np:NP6318.RAmfIyyNxfmDpXaoOHtJuikYYa0xss1pnJ3Dr6kIc0rQA130_assertion
dcterms:description
"[This highlights the multiple molecular mechanisms that are likely to be involved in the molecular pathology of SPG4 and illustrates the importance of complete screening of the spastin gene in affected individuals, particularly if the index case has an unusual phenotype.]. 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:15326248
;
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:NP6318.RAmfIyyNxfmDpXaoOHtJuikYYa0xss1pnJ3Dr6kIc0rQA130_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" .
}