@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA
> .
@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:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_head
{
this:
np:hasAssertion
dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_assertion
;
np:hasProvenance
dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_assertion
a
np:Assertion
.
dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_provenance
a
np:Provenance
.
dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_assertion
{
miriam-gene:1738
a
ncit:C16612
.
lld:C0024776
a
ncit:C7057
.
dgn-gda:DGNafcb1b6c74e702f583c27d723ec4b785
sio:SIO_000628
miriam-gene:1738
,
lld:C0024776
;
a
sio:SIO_001121
.
}
dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_provenance
{
dgn-np:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_assertion
dcterms:description
"[Maple syrup urine disease (MSUD) is an autosomal recessive metabolic disease caused by mutations in the BCKDHA, BCKDHB, DBT and DLD genes, which encode the E1α, E1β, E2 and E3 subunits of the branched chain α ketoacid dehydrogenase (BCKD) complex, respectively.]. 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:25381949
;
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:NP1236110.RAhXAMKypMyQO2I8RKLJ5Xeleecjjg4-YPGcvQFm6vxfA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:06+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" .
}