@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA
> .
@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:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_head
{
this:
np:hasAssertion
dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion
;
np:hasProvenance
dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_provenance
;
np:hasPublicationInfo
dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion
a
np:Assertion
.
dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_provenance
a
np:Provenance
.
dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion
{
miriam-gene:25974
a
ncit:C16612
.
lld:C0042847
a
ncit:C7057
.
dgn-gda:DGN93bdd30d1e0cbc45e38d29c587ba5913
sio:SIO_000628
miriam-gene:25974
,
lld:C0042847
;
a
sio:SIO_001121
.
}
dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_provenance
{
dgn-np:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_assertion
dcterms:description
"[The other two variants displayed negative effects on the expression of the HCFC1 target gene MMACHC, which is responsible for the metabolism of cobalamin, suggesting that these individuals may also be susceptible to cobalamin deficiency.]. 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:25740848
;
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:NP1268513.RAtZ1GyxMTGOQi6cHExN4IgOfog25DP8c8siWx92Tx4yA130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:21+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" .
}