@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU
> .
@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:NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_head
{
this:
np:hasAssertion
dgn-np:NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_assertion
;
np:hasProvenance
dgn-np:NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_provenance
;
np:hasPublicationInfo
dgn-np:NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_assertion
a
np:Assertion
.
dgn-np:NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_provenance
a
np:Provenance
.
dgn-np:NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_assertion
{
miriam-gene:9896
a
ncit:C16612
.
lld:C1970011
a
ncit:C7057
.
dgn-gda:DGN188ffb5b91166eb25e9fd53edd60f189
sio:SIO_000628
miriam-gene:9896
,
lld:C1970011
;
a
sio:SIO_001121
.
}
dgn-np:NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_provenance
{
dgn-np:NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_assertion
dcterms:description
"[Charcot-Marie-Tooth disease type 4J (CMT4J), a rare form of demyelinating CMT, caused by recessive mutations in the phosphoinositide phosphatase FIG4 gene, is characterised by progressive proximal and distal weakness and evidence of chronic denervation in both proximal and distal muscles.]. 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:23489662
;
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:NP919602.RA1Q7h6RKvB19nGiTtITXSqf6Xr22FS2FwzbXFMNgObHU130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:41:24+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" .
}