@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP542433.RA1A3w9F_Pnk6Uy4OenpeOZSkKUhzXEnUYMvetqTvawmc
> .
@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:NP542433.RA1A3w9F_Pnk6Uy4OenpeOZSkKUhzXEnUYMvetqTvawmc130_head
{
this:
np:hasAssertion
dgn-np:NP542433.RA1A3w9F_Pnk6Uy4OenpeOZSkKUhzXEnUYMvetqTvawmc130_assertion
;
np:hasProvenance
dgn-np:NP542433.RA1A3w9F_Pnk6Uy4OenpeOZSkKUhzXEnUYMvetqTvawmc130_provenance
;
np:hasPublicationInfo
dgn-np:NP542433.RA1A3w9F_Pnk6Uy4OenpeOZSkKUhzXEnUYMvetqTvawmc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP542433.RA1A3w9F_Pnk6Uy4OenpeOZSkKUhzXEnUYMvetqTvawmc130_assertion
a
np:Assertion
.
dgn-np:NP542433.RA1A3w9F_Pnk6Uy4OenpeOZSkKUhzXEnUYMvetqTvawmc130_provenance
a
np:Provenance
.
dgn-np:NP542433.RA1A3w9F_Pnk6Uy4OenpeOZSkKUhzXEnUYMvetqTvawmc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP542433.RA1A3w9F_Pnk6Uy4OenpeOZSkKUhzXEnUYMvetqTvawmc130_assertion
{
miriam-gene:9856
a
ncit:C16612
.
lld:C0431404
a
ncit:C7057
.
dgn-gda:DGNb36af1fc0cc9f9cd87dc72ddb6a4935c
sio:SIO_000628
miriam-gene:9856
,
lld:C0431404
;
a
sio:SIO_001121
.
}
dgn-np:NP542433.RA1A3w9F_Pnk6Uy4OenpeOZSkKUhzXEnUYMvetqTvawmc130_provenance
{
dgn-np:NP542433.RA1A3w9F_Pnk6Uy4OenpeOZSkKUhzXEnUYMvetqTvawmc130_assertion
dcterms:description
"[Fukuyama congenital muscular dystrophy (FCMD) is characterized by infantile hypotonia, symmetrical generalized muscle weakness, and neuronal migration disturbances that result in changes consistent with cobblestone lissencephaly with cerebral and cerebellar cortical dysplasia.]. 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:16570239
;
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:NP542433.RA1A3w9F_Pnk6Uy4OenpeOZSkKUhzXEnUYMvetqTvawmc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:50+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" .
}