@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP402611.RA0jUO-YLLIGQwYPntsVMZA6OxnVA7S81HPob798tITmA
> .
@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/v3.0.0/void/
> .
dgn-np:NP402611.RA0jUO-YLLIGQwYPntsVMZA6OxnVA7S81HPob798tITmA130_head
{
this:
np:hasAssertion
dgn-np:NP402611.RA0jUO-YLLIGQwYPntsVMZA6OxnVA7S81HPob798tITmA130_assertion
;
np:hasProvenance
dgn-np:NP402611.RA0jUO-YLLIGQwYPntsVMZA6OxnVA7S81HPob798tITmA130_provenance
;
np:hasPublicationInfo
dgn-np:NP402611.RA0jUO-YLLIGQwYPntsVMZA6OxnVA7S81HPob798tITmA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP402611.RA0jUO-YLLIGQwYPntsVMZA6OxnVA7S81HPob798tITmA130_assertion
a
np:Assertion
.
dgn-np:NP402611.RA0jUO-YLLIGQwYPntsVMZA6OxnVA7S81HPob798tITmA130_provenance
a
np:Provenance
.
dgn-np:NP402611.RA0jUO-YLLIGQwYPntsVMZA6OxnVA7S81HPob798tITmA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP402611.RA0jUO-YLLIGQwYPntsVMZA6OxnVA7S81HPob798tITmA130_assertion
{
miriam-gene:2271
a
ncit:C16612
.
lld:C2936826
a
ncit:C7057
.
dgn-gda:DGN93fdcd4eb704374da9b17a18d92799c0
sio:SIO_000628
miriam-gene:2271
,
lld:C2936826
;
a
sio:SIO_001121
.
}
dgn-np:NP402611.RA0jUO-YLLIGQwYPntsVMZA6OxnVA7S81HPob798tITmA130_provenance
{
dgn-np:NP402611.RA0jUO-YLLIGQwYPntsVMZA6OxnVA7S81HPob798tITmA130_assertion
dcterms:description
"[Mutations in the FH gene cause the deficiency of the enzyme fumarase (fumarate hydratase, EC 4.2.1.2) which result in autosomal recessive fumaric aciduria in early childhood with failure to thrive, seizures, developmental delay, mental retardation, hypotonia and sometimes with polycythemia, leukopenia, and neutropenia.]. 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:23612258
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP402611.RA0jUO-YLLIGQwYPntsVMZA6OxnVA7S81HPob798tITmA130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:41:34+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}