@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP446129.RAeaccGJmx6sSMxkp-O8cDRthIsAQBuQYpgrcyM1jz6O4
> .
@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:NP446129.RAeaccGJmx6sSMxkp-O8cDRthIsAQBuQYpgrcyM1jz6O4130_head
{
this:
np:hasAssertion
dgn-np:NP446129.RAeaccGJmx6sSMxkp-O8cDRthIsAQBuQYpgrcyM1jz6O4130_assertion
;
np:hasProvenance
dgn-np:NP446129.RAeaccGJmx6sSMxkp-O8cDRthIsAQBuQYpgrcyM1jz6O4130_provenance
;
np:hasPublicationInfo
dgn-np:NP446129.RAeaccGJmx6sSMxkp-O8cDRthIsAQBuQYpgrcyM1jz6O4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP446129.RAeaccGJmx6sSMxkp-O8cDRthIsAQBuQYpgrcyM1jz6O4130_assertion
a
np:Assertion
.
dgn-np:NP446129.RAeaccGJmx6sSMxkp-O8cDRthIsAQBuQYpgrcyM1jz6O4130_provenance
a
np:Provenance
.
dgn-np:NP446129.RAeaccGJmx6sSMxkp-O8cDRthIsAQBuQYpgrcyM1jz6O4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP446129.RAeaccGJmx6sSMxkp-O8cDRthIsAQBuQYpgrcyM1jz6O4130_assertion
{
miriam-gene:6606
a
ncit:C16612
.
lld:C0746674
a
ncit:C7057
.
dgn-gda:DGN37897731dbc6fbadb7ea4295bc8d8233
sio:SIO_000628
miriam-gene:6606
,
lld:C0746674
;
a
sio:SIO_001121
.
}
dgn-np:NP446129.RAeaccGJmx6sSMxkp-O8cDRthIsAQBuQYpgrcyM1jz6O4130_provenance
{
dgn-np:NP446129.RAeaccGJmx6sSMxkp-O8cDRthIsAQBuQYpgrcyM1jz6O4130_assertion
dcterms:description
"[This disease is characterized by generalized muscle weakness and atrophy predominating in proximal limb muscles, and phenotype is classified into four grades of severity (SMA I, SMAII, SMAIII, SMA IV) based on age of onset and motor function achieved.]. 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:22047105
;
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:NP446129.RAeaccGJmx6sSMxkp-O8cDRthIsAQBuQYpgrcyM1jz6O4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:36:26+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" .
}