@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA
> .
@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:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_head
{
this:
np:hasAssertion
dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_assertion
;
np:hasProvenance
dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_assertion
a
np:Assertion
.
dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_provenance
a
np:Provenance
.
dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_assertion
{
miriam-gene:57217
a
ncit:C16612
.
lld:C0021390
a
ncit:C7057
.
dgn-gda:DGN9b991a9ec2636d6373a9a2a469b9f459
sio:SIO_000628
miriam-gene:57217
,
lld:C0021390
;
a
sio:SIO_001121
.
}
dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_provenance
{
dgn-np:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_assertion
dcterms:description
"[Mutations of the tetratricopeptide repeat domain 7A gene have been identified in patients with MIA and other related disorders, including MIA associated with combined immunodeficiency and very early onset inflammatory bowel disease with apoptotic enterocolitis.]. 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:25268403
;
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:NP1224921.RAgONQuu5le-ADgchCYBPLJHMgUv9Qedhc1ibc6YHDjlA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:01+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" .
}