@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1224923.RAAecbFyP7uO0kXRMl6NX8ykQR60v3HuMyHRz8N098daw
> .
@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:NP1224923.RAAecbFyP7uO0kXRMl6NX8ykQR60v3HuMyHRz8N098daw130_head
{
this:
np:hasAssertion
dgn-np:NP1224923.RAAecbFyP7uO0kXRMl6NX8ykQR60v3HuMyHRz8N098daw130_assertion
;
np:hasProvenance
dgn-np:NP1224923.RAAecbFyP7uO0kXRMl6NX8ykQR60v3HuMyHRz8N098daw130_provenance
;
np:hasPublicationInfo
dgn-np:NP1224923.RAAecbFyP7uO0kXRMl6NX8ykQR60v3HuMyHRz8N098daw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1224923.RAAecbFyP7uO0kXRMl6NX8ykQR60v3HuMyHRz8N098daw130_assertion
a
np:Assertion
.
dgn-np:NP1224923.RAAecbFyP7uO0kXRMl6NX8ykQR60v3HuMyHRz8N098daw130_provenance
a
np:Provenance
.
dgn-np:NP1224923.RAAecbFyP7uO0kXRMl6NX8ykQR60v3HuMyHRz8N098daw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1224923.RAAecbFyP7uO0kXRMl6NX8ykQR60v3HuMyHRz8N098daw130_assertion
{
miriam-gene:57217
a
ncit:C16612
.
lld:C0014356
a
ncit:C7057
.
dgn-gda:DGN3f92108dcb28dff9c612095f2cc0ab80
sio:SIO_000628
miriam-gene:57217
,
lld:C0014356
;
a
sio:SIO_001121
.
}
dgn-np:NP1224923.RAAecbFyP7uO0kXRMl6NX8ykQR60v3HuMyHRz8N098daw130_provenance
{
dgn-np:NP1224923.RAAecbFyP7uO0kXRMl6NX8ykQR60v3HuMyHRz8N098daw130_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:NP1224923.RAAecbFyP7uO0kXRMl6NX8ykQR60v3HuMyHRz8N098daw130_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" .
}