@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP340425.RATUPDu-0muUxEYVsgATM0dwRvG-gTdyCUMzLC30R-3AM
> .
@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:NP340425.RATUPDu-0muUxEYVsgATM0dwRvG-gTdyCUMzLC30R-3AM130_head
{
this:
np:hasAssertion
dgn-np:NP340425.RATUPDu-0muUxEYVsgATM0dwRvG-gTdyCUMzLC30R-3AM130_assertion
;
np:hasProvenance
dgn-np:NP340425.RATUPDu-0muUxEYVsgATM0dwRvG-gTdyCUMzLC30R-3AM130_provenance
;
np:hasPublicationInfo
dgn-np:NP340425.RATUPDu-0muUxEYVsgATM0dwRvG-gTdyCUMzLC30R-3AM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP340425.RATUPDu-0muUxEYVsgATM0dwRvG-gTdyCUMzLC30R-3AM130_assertion
a
np:Assertion
.
dgn-np:NP340425.RATUPDu-0muUxEYVsgATM0dwRvG-gTdyCUMzLC30R-3AM130_provenance
a
np:Provenance
.
dgn-np:NP340425.RATUPDu-0muUxEYVsgATM0dwRvG-gTdyCUMzLC30R-3AM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP340425.RATUPDu-0muUxEYVsgATM0dwRvG-gTdyCUMzLC30R-3AM130_assertion
{
miriam-gene:64802
a
ncit:C16612
.
lld:C0205748
a
ncit:C7057
.
dgn-gda:DGNa77723173fcb7d61f3e6a3eec50142fa
sio:SIO_000628
miriam-gene:64802
,
lld:C0205748
;
a
sio:SIO_001121
.
}
dgn-np:NP340425.RATUPDu-0muUxEYVsgATM0dwRvG-gTdyCUMzLC30R-3AM130_provenance
{
dgn-np:NP340425.RATUPDu-0muUxEYVsgATM0dwRvG-gTdyCUMzLC30R-3AM130_assertion
dcterms:description
"[Functional assays of the proteins encoded by the mutant alleles identified in our study showed that the mutations reduce the enzymatic activity of NMNAT1 in NAD biosynthesis and affect protein folding.]. 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:22842230
;
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:NP340425.RATUPDu-0muUxEYVsgATM0dwRvG-gTdyCUMzLC30R-3AM130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:20+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" .
}