@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1410112.RAK0gXsVAOpdnWLuiMsDQuUjiZ8lZTh62OZkjgA8wMgEE
> .
@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:NP1410112.RAK0gXsVAOpdnWLuiMsDQuUjiZ8lZTh62OZkjgA8wMgEE130_head
{
this:
np:hasAssertion
dgn-np:NP1410112.RAK0gXsVAOpdnWLuiMsDQuUjiZ8lZTh62OZkjgA8wMgEE130_assertion
;
np:hasProvenance
dgn-np:NP1410112.RAK0gXsVAOpdnWLuiMsDQuUjiZ8lZTh62OZkjgA8wMgEE130_provenance
;
np:hasPublicationInfo
dgn-np:NP1410112.RAK0gXsVAOpdnWLuiMsDQuUjiZ8lZTh62OZkjgA8wMgEE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1410112.RAK0gXsVAOpdnWLuiMsDQuUjiZ8lZTh62OZkjgA8wMgEE130_assertion
a
np:Assertion
.
dgn-np:NP1410112.RAK0gXsVAOpdnWLuiMsDQuUjiZ8lZTh62OZkjgA8wMgEE130_provenance
a
np:Provenance
.
dgn-np:NP1410112.RAK0gXsVAOpdnWLuiMsDQuUjiZ8lZTh62OZkjgA8wMgEE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1410112.RAK0gXsVAOpdnWLuiMsDQuUjiZ8lZTh62OZkjgA8wMgEE130_assertion
{
miriam-gene:3925
a
ncit:C16612
.
lld:C0027868
a
ncit:C7057
.
dgn-gda:DGN56d445552e5f0e23328ef0dad2ac50b6
sio:SIO_000628
miriam-gene:3925
,
lld:C0027868
;
a
sio:SIO_001121
.
}
dgn-np:NP1410112.RAK0gXsVAOpdnWLuiMsDQuUjiZ8lZTh62OZkjgA8wMgEE130_provenance
{
dgn-np:NP1410112.RAK0gXsVAOpdnWLuiMsDQuUjiZ8lZTh62OZkjgA8wMgEE130_assertion
dcterms:description
"[The autosomal recessive neuromuscular disorder proximal spinal muscular atrophy (SMA) is caused by the loss or mutation of the survival motor neuron (SMN) gene, which exists in two nearly identical copies, telomeric SMN (telSMN) and centromeric SMN (cenSMN).]. 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:9837824
;
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:NP1410112.RAK0gXsVAOpdnWLuiMsDQuUjiZ8lZTh62OZkjgA8wMgEE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:52:26+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: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" .
}