@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP49347.RA-3AC7O1ljF1icSsKTxm2HbCmMpiCP5LvqxO99A8ghR0
> .
@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:NP49347.RA-3AC7O1ljF1icSsKTxm2HbCmMpiCP5LvqxO99A8ghR0130_head
{
this:
np:hasAssertion
dgn-np:NP49347.RA-3AC7O1ljF1icSsKTxm2HbCmMpiCP5LvqxO99A8ghR0130_assertion
;
np:hasProvenance
dgn-np:NP49347.RA-3AC7O1ljF1icSsKTxm2HbCmMpiCP5LvqxO99A8ghR0130_provenance
;
np:hasPublicationInfo
dgn-np:NP49347.RA-3AC7O1ljF1icSsKTxm2HbCmMpiCP5LvqxO99A8ghR0130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP49347.RA-3AC7O1ljF1icSsKTxm2HbCmMpiCP5LvqxO99A8ghR0130_assertion
a
np:Assertion
.
dgn-np:NP49347.RA-3AC7O1ljF1icSsKTxm2HbCmMpiCP5LvqxO99A8ghR0130_provenance
a
np:Provenance
.
dgn-np:NP49347.RA-3AC7O1ljF1icSsKTxm2HbCmMpiCP5LvqxO99A8ghR0130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP49347.RA-3AC7O1ljF1icSsKTxm2HbCmMpiCP5LvqxO99A8ghR0130_assertion
{
miriam-gene:43
a
ncit:C16612
.
lld:C0011881
a
ncit:C7057
.
dgn-gda:DGN094f0d6122495a2f09b2c393c51ce742
sio:SIO_000628
miriam-gene:43
,
lld:C0011881
;
a
sio:SIO_001122
.
}
dgn-np:NP49347.RA-3AC7O1ljF1icSsKTxm2HbCmMpiCP5LvqxO99A8ghR0130_provenance
{
dgn-np:NP49347.RA-3AC7O1ljF1icSsKTxm2HbCmMpiCP5LvqxO99A8ghR0130_assertion
dcterms:description
"[The low number of SNPs identified until now in the ACHE gene is ascribed to technical hurdles arising from the high GC content and the presence of numerous repeat sequences, and does not reflect its intrinsic heterozygosity. Among the SNPs resulting in an amino acid substitution, three are within the]. 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:15459952
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP49347.RA-3AC7O1ljF1icSsKTxm2HbCmMpiCP5LvqxO99A8ghR0130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:22+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" .
}