@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP252090.RALzEIYrGBik_MOaO3Gi67sCE5CuH1hI9KA97XTiDNYHI
> .
@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:NP252090.RALzEIYrGBik_MOaO3Gi67sCE5CuH1hI9KA97XTiDNYHI130_head
{
this:
np:hasAssertion
dgn-np:NP252090.RALzEIYrGBik_MOaO3Gi67sCE5CuH1hI9KA97XTiDNYHI130_assertion
;
np:hasProvenance
dgn-np:NP252090.RALzEIYrGBik_MOaO3Gi67sCE5CuH1hI9KA97XTiDNYHI130_provenance
;
np:hasPublicationInfo
dgn-np:NP252090.RALzEIYrGBik_MOaO3Gi67sCE5CuH1hI9KA97XTiDNYHI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP252090.RALzEIYrGBik_MOaO3Gi67sCE5CuH1hI9KA97XTiDNYHI130_assertion
a
np:Assertion
.
dgn-np:NP252090.RALzEIYrGBik_MOaO3Gi67sCE5CuH1hI9KA97XTiDNYHI130_provenance
a
np:Provenance
.
dgn-np:NP252090.RALzEIYrGBik_MOaO3Gi67sCE5CuH1hI9KA97XTiDNYHI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP252090.RALzEIYrGBik_MOaO3Gi67sCE5CuH1hI9KA97XTiDNYHI130_assertion
{
miriam-gene:6607
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGNc2b0f43e17ebfa674868d7825cc05c47
sio:SIO_000628
miriam-gene:6607
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP252090.RALzEIYrGBik_MOaO3Gi67sCE5CuH1hI9KA97XTiDNYHI130_provenance
{
dgn-np:NP252090.RALzEIYrGBik_MOaO3Gi67sCE5CuH1hI9KA97XTiDNYHI130_assertion
dcterms:description
"[Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the homozygous absence of the telomeric copy of the survival motor neuron (SMNt) gene, due to deletion, gene conversion or point mutation.]. 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:10234506
;
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:NP252090.RALzEIYrGBik_MOaO3Gi67sCE5CuH1hI9KA97XTiDNYHI130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:40+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" .
}