@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP765086.RA0PwkWPoZo7bIFT1aauafadXoXIEMZ3N7B90HNu1USe4
> .
@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#
> .
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{
this:
np:hasAssertion
dgn-np:NP765086.RA0PwkWPoZo7bIFT1aauafadXoXIEMZ3N7B90HNu1USe4130_assertion
;
np:hasProvenance
dgn-np:NP765086.RA0PwkWPoZo7bIFT1aauafadXoXIEMZ3N7B90HNu1USe4130_provenance
;
np:hasPublicationInfo
dgn-np:NP765086.RA0PwkWPoZo7bIFT1aauafadXoXIEMZ3N7B90HNu1USe4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP765086.RA0PwkWPoZo7bIFT1aauafadXoXIEMZ3N7B90HNu1USe4130_assertion
a
np:Assertion
.
dgn-np:NP765086.RA0PwkWPoZo7bIFT1aauafadXoXIEMZ3N7B90HNu1USe4130_provenance
a
np:Provenance
.
dgn-np:NP765086.RA0PwkWPoZo7bIFT1aauafadXoXIEMZ3N7B90HNu1USe4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP765086.RA0PwkWPoZo7bIFT1aauafadXoXIEMZ3N7B90HNu1USe4130_assertion
{
miriam-gene:242
a
ncit:C16612
.
lld:C0079154
a
ncit:C7057
.
dgn-gda:DGN07095476756ed9ede2b1a4e9663899a5
sio:SIO_000628
miriam-gene:242
,
lld:C0079154
;
a
sio:SIO_001121
.
}
dgn-np:NP765086.RA0PwkWPoZo7bIFT1aauafadXoXIEMZ3N7B90HNu1USe4130_provenance
{
dgn-np:NP765086.RA0PwkWPoZo7bIFT1aauafadXoXIEMZ3N7B90HNu1USe4130_assertion
dcterms:description
"[We have identified 11 different previously unreported mutations in ALOX12B and ALOXE3 in 21 ARCI patients from 19 unrelated families and demonstrated that mutations in the two genes are the second most common cause for ARCI in this cohort of patients.]. 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:19131948
;
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 .
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dgn-np:NP765086.RA0PwkWPoZo7bIFT1aauafadXoXIEMZ3N7B90HNu1USe4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:43+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
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"v2.1.0" .
}