@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP758082.RAtE7i_E0VpU38KpKFeOi4NAT9KJcaqrdwfA-yda2uAbE
> .
@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:NP758082.RAtE7i_E0VpU38KpKFeOi4NAT9KJcaqrdwfA-yda2uAbE130_head
{
this:
np:hasAssertion
dgn-np:NP758082.RAtE7i_E0VpU38KpKFeOi4NAT9KJcaqrdwfA-yda2uAbE130_assertion
;
np:hasProvenance
dgn-np:NP758082.RAtE7i_E0VpU38KpKFeOi4NAT9KJcaqrdwfA-yda2uAbE130_provenance
;
np:hasPublicationInfo
dgn-np:NP758082.RAtE7i_E0VpU38KpKFeOi4NAT9KJcaqrdwfA-yda2uAbE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP758082.RAtE7i_E0VpU38KpKFeOi4NAT9KJcaqrdwfA-yda2uAbE130_assertion
a
np:Assertion
.
dgn-np:NP758082.RAtE7i_E0VpU38KpKFeOi4NAT9KJcaqrdwfA-yda2uAbE130_provenance
a
np:Provenance
.
dgn-np:NP758082.RAtE7i_E0VpU38KpKFeOi4NAT9KJcaqrdwfA-yda2uAbE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP758082.RAtE7i_E0VpU38KpKFeOi4NAT9KJcaqrdwfA-yda2uAbE130_assertion
{
miriam-gene:4594
a
ncit:C16612
.
lld:C0276096
a
ncit:C7057
.
dgn-gda:DGN2b322eb038e65c2be9d81709822cd49e
sio:SIO_000628
miriam-gene:4594
,
lld:C0276096
;
a
sio:SIO_001121
.
}
dgn-np:NP758082.RAtE7i_E0VpU38KpKFeOi4NAT9KJcaqrdwfA-yda2uAbE130_provenance
{
dgn-np:NP758082.RAtE7i_E0VpU38KpKFeOi4NAT9KJcaqrdwfA-yda2uAbE130_assertion
dcterms:description
"[Methylmalonic acidemia (MMA) can be caused by mutations in the gene coding for the methylmalonyl CoA mutase (MCM) apoenzyme or by mutations in genes required for provision of its adenosylcobalamin cofactor.]. 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:1968706
;
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:NP758082.RAtE7i_E0VpU38KpKFeOi4NAT9KJcaqrdwfA-yda2uAbE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:28+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" .
}