@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc
> .
@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:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_head
{
this:
np:hasAssertion
dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_assertion
;
np:hasProvenance
dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_provenance
;
np:hasPublicationInfo
dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_assertion
a
np:Assertion
.
dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_provenance
a
np:Provenance
.
dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_assertion
{
miriam-gene:3155
a
ncit:C16612
.
lld:C0020615
a
ncit:C7057
.
dgn-gda:DGNd4c437f3908a304c051bd008b24c17fe
sio:SIO_000628
miriam-gene:3155
,
lld:C0020615
;
a
sio:SIO_001121
.
}
dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_provenance
{
dgn-np:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_assertion
dcterms:description
"[Mitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase (HMGCL) deficiency is an autosomal recessive disorder affecting the leucine catabolic pathway and ketone body synthesis, and is clinically characterized by metabolic crises with hypoketotic hypoglycemia, metabolic acidosis and hyperammonemia.]. 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:25872961
;
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:NP1277807.RAiyD72VHwKWm4o4SCu1l2XpGCLcGHe9JPdB1etTFbudc130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:25+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" .
}