@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP545358.RAH2P-d73xj6z2r_tqxeV8dKzwzyQnCh11tGrXwrAxQMw
> .
@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:NP545358.RAH2P-d73xj6z2r_tqxeV8dKzwzyQnCh11tGrXwrAxQMw130_head
{
this:
np:hasAssertion
dgn-np:NP545358.RAH2P-d73xj6z2r_tqxeV8dKzwzyQnCh11tGrXwrAxQMw130_assertion
;
np:hasProvenance
dgn-np:NP545358.RAH2P-d73xj6z2r_tqxeV8dKzwzyQnCh11tGrXwrAxQMw130_provenance
;
np:hasPublicationInfo
dgn-np:NP545358.RAH2P-d73xj6z2r_tqxeV8dKzwzyQnCh11tGrXwrAxQMw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP545358.RAH2P-d73xj6z2r_tqxeV8dKzwzyQnCh11tGrXwrAxQMw130_assertion
a
np:Assertion
.
dgn-np:NP545358.RAH2P-d73xj6z2r_tqxeV8dKzwzyQnCh11tGrXwrAxQMw130_provenance
a
np:Provenance
.
dgn-np:NP545358.RAH2P-d73xj6z2r_tqxeV8dKzwzyQnCh11tGrXwrAxQMw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP545358.RAH2P-d73xj6z2r_tqxeV8dKzwzyQnCh11tGrXwrAxQMw130_assertion
{
miriam-gene:2108
a
ncit:C16612
.
lld:C0268596
a
ncit:C7057
.
dgn-gda:DGN97bbd9e67100276b1359f30f7ca9abfa
sio:SIO_000628
miriam-gene:2108
,
lld:C0268596
;
a
sio:SIO_001121
.
}
dgn-np:NP545358.RAH2P-d73xj6z2r_tqxeV8dKzwzyQnCh11tGrXwrAxQMw130_provenance
{
dgn-np:NP545358.RAH2P-d73xj6z2r_tqxeV8dKzwzyQnCh11tGrXwrAxQMw130_assertion
dcterms:description
"[Multiple acyl-CoA dehydrogenase deficiency (MADD, OMIM 231680) or glutaric aciduria type II (GAII) is an inherited autosomal recessive disease affecting fatty acid, amino acid and choline metabolism, due to mutations in one of three genes namely, electron transfer flavoprotein alpha-subunit, ETFA (OMIM 608053), electron transfer flavoprotein beta-subunit, ETFB (OMIM 130410) and electron transfer flavoprotein dehydrogenase, ETFDH (OMIM 231675).]. 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:19265687
;
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 .
}
dgn-np:NP545358.RAH2P-d73xj6z2r_tqxeV8dKzwzyQnCh11tGrXwrAxQMw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:29+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" .
}