@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP639631.RAbiGWP-luX_pX5D0Esp7WYs33DKc4fuXAkop0y8c04cY
> .
@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:NP639631.RAbiGWP-luX_pX5D0Esp7WYs33DKc4fuXAkop0y8c04cY130_head
{
this:
np:hasAssertion
dgn-np:NP639631.RAbiGWP-luX_pX5D0Esp7WYs33DKc4fuXAkop0y8c04cY130_assertion
;
np:hasProvenance
dgn-np:NP639631.RAbiGWP-luX_pX5D0Esp7WYs33DKc4fuXAkop0y8c04cY130_provenance
;
np:hasPublicationInfo
dgn-np:NP639631.RAbiGWP-luX_pX5D0Esp7WYs33DKc4fuXAkop0y8c04cY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP639631.RAbiGWP-luX_pX5D0Esp7WYs33DKc4fuXAkop0y8c04cY130_assertion
a
np:Assertion
.
dgn-np:NP639631.RAbiGWP-luX_pX5D0Esp7WYs33DKc4fuXAkop0y8c04cY130_provenance
a
np:Provenance
.
dgn-np:NP639631.RAbiGWP-luX_pX5D0Esp7WYs33DKc4fuXAkop0y8c04cY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP639631.RAbiGWP-luX_pX5D0Esp7WYs33DKc4fuXAkop0y8c04cY130_assertion
{
miriam-gene:4709
a
ncit:C16612
.
lld:C1848561
a
ncit:C7057
.
dgn-gda:DGN2379953d892b15ea9fb57885933b48cf
sio:SIO_000628
miriam-gene:4709
,
lld:C1848561
;
a
sio:SIO_001121
.
}
dgn-np:NP639631.RAbiGWP-luX_pX5D0Esp7WYs33DKc4fuXAkop0y8c04cY130_provenance
{
dgn-np:NP639631.RAbiGWP-luX_pX5D0Esp7WYs33DKc4fuXAkop0y8c04cY130_assertion
dcterms:description
"[Methylmalonic aciduria and homocystinuria, cblC type (MIM 277400), is the most frequent inborn error of vitamin B12 (cobalamin, Cbl) metabolism, caused by an inability of the cell to convert Cbl to both of its active forms (MeCbl, AdoCbl).]. 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:16714133
;
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:NP639631.RAbiGWP-luX_pX5D0Esp7WYs33DKc4fuXAkop0y8c04cY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:25+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: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" .
}