@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP31344.RA9xJ-OdHNtIxtIVZMLxX23HKtmrZRsAJ1n_EZvvmmf4E
> .
@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:NP31344.RA9xJ-OdHNtIxtIVZMLxX23HKtmrZRsAJ1n_EZvvmmf4E130_head
{
this:
np:hasAssertion
dgn-np:NP31344.RA9xJ-OdHNtIxtIVZMLxX23HKtmrZRsAJ1n_EZvvmmf4E130_assertion
;
np:hasProvenance
dgn-np:NP31344.RA9xJ-OdHNtIxtIVZMLxX23HKtmrZRsAJ1n_EZvvmmf4E130_provenance
;
np:hasPublicationInfo
dgn-np:NP31344.RA9xJ-OdHNtIxtIVZMLxX23HKtmrZRsAJ1n_EZvvmmf4E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP31344.RA9xJ-OdHNtIxtIVZMLxX23HKtmrZRsAJ1n_EZvvmmf4E130_assertion
a
np:Assertion
.
dgn-np:NP31344.RA9xJ-OdHNtIxtIVZMLxX23HKtmrZRsAJ1n_EZvvmmf4E130_provenance
a
np:Provenance
.
dgn-np:NP31344.RA9xJ-OdHNtIxtIVZMLxX23HKtmrZRsAJ1n_EZvvmmf4E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP31344.RA9xJ-OdHNtIxtIVZMLxX23HKtmrZRsAJ1n_EZvvmmf4E130_assertion
{
miriam-gene:6901
a
ncit:C16612
.
lld:C0574083
a
ncit:C7057
.
dgn-gda:DGN783d390276c43606cc3fe4d2d2873f1e
sio:SIO_000628
miriam-gene:6901
,
lld:C0574083
;
a
sio:SIO_001121
.
}
dgn-np:NP31344.RA9xJ-OdHNtIxtIVZMLxX23HKtmrZRsAJ1n_EZvvmmf4E130_provenance
{
dgn-np:NP31344.RA9xJ-OdHNtIxtIVZMLxX23HKtmrZRsAJ1n_EZvvmmf4E130_assertion
dcterms:description
"[The tafazzin (TAZ) gene is highly conserved from yeast to humans, and the yeast taz1 null mutant shows alterations in cardiolipin (CL) metabolism, mitochondrial dysfunction and stabilization of supercomplexes similar to those found in Barth syndrome, a human disorder resulting from loss of tafazzin.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:18430085
;
prov:wasDerivedFrom
dgn-void:ctd_human-20130708
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:ctd_human-20130708
pav:importedOn
"2013-07-24"^^
xsd:date
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
}
dgn-np:NP31344.RA9xJ-OdHNtIxtIVZMLxX23HKtmrZRsAJ1n_EZvvmmf4E130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:13+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" .
}