@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP266647.RAjIur6OY9VfkwYV6mu7l93gTm6g4_yVb6heQWWRH9FYU
> .
@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:NP266647.RAjIur6OY9VfkwYV6mu7l93gTm6g4_yVb6heQWWRH9FYU130_head
{
this:
np:hasAssertion
dgn-np:NP266647.RAjIur6OY9VfkwYV6mu7l93gTm6g4_yVb6heQWWRH9FYU130_assertion
;
np:hasProvenance
dgn-np:NP266647.RAjIur6OY9VfkwYV6mu7l93gTm6g4_yVb6heQWWRH9FYU130_provenance
;
np:hasPublicationInfo
dgn-np:NP266647.RAjIur6OY9VfkwYV6mu7l93gTm6g4_yVb6heQWWRH9FYU130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP266647.RAjIur6OY9VfkwYV6mu7l93gTm6g4_yVb6heQWWRH9FYU130_assertion
a
np:Assertion
.
dgn-np:NP266647.RAjIur6OY9VfkwYV6mu7l93gTm6g4_yVb6heQWWRH9FYU130_provenance
a
np:Provenance
.
dgn-np:NP266647.RAjIur6OY9VfkwYV6mu7l93gTm6g4_yVb6heQWWRH9FYU130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP266647.RAjIur6OY9VfkwYV6mu7l93gTm6g4_yVb6heQWWRH9FYU130_assertion
{
miriam-gene:6607
a
ncit:C16612
.
lld:C0026847
a
ncit:C7057
.
dgn-gda:DGNf3e8d5a603891aa94fd2bfb1b31013b5
sio:SIO_000628
miriam-gene:6607
,
lld:C0026847
;
a
sio:SIO_001121
.
}
dgn-np:NP266647.RAjIur6OY9VfkwYV6mu7l93gTm6g4_yVb6heQWWRH9FYU130_provenance
{
dgn-np:NP266647.RAjIur6OY9VfkwYV6mu7l93gTm6g4_yVb6heQWWRH9FYU130_assertion
dcterms:description
"[The survival motor neuron (SMN) gene is present in two copies on chromosome 5q13 and the evidence is now compelling that mutations in the telomeric copy (SMNt) of the gene underlie childhood onset proximal spinal muscular atrophy (SMA).]. 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:10545039
;
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:NP266647.RAjIur6OY9VfkwYV6mu7l93gTm6g4_yVb6heQWWRH9FYU130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:43:46+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" .
}