@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP849678.RANEQqkv5CAxG0P8nqk678tsy7PnorDyqZBUU5c2SIm-E
> .
@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:NP849678.RANEQqkv5CAxG0P8nqk678tsy7PnorDyqZBUU5c2SIm-E130_head
{
this:
np:hasAssertion
dgn-np:NP849678.RANEQqkv5CAxG0P8nqk678tsy7PnorDyqZBUU5c2SIm-E130_assertion
;
np:hasProvenance
dgn-np:NP849678.RANEQqkv5CAxG0P8nqk678tsy7PnorDyqZBUU5c2SIm-E130_provenance
;
np:hasPublicationInfo
dgn-np:NP849678.RANEQqkv5CAxG0P8nqk678tsy7PnorDyqZBUU5c2SIm-E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP849678.RANEQqkv5CAxG0P8nqk678tsy7PnorDyqZBUU5c2SIm-E130_assertion
a
np:Assertion
.
dgn-np:NP849678.RANEQqkv5CAxG0P8nqk678tsy7PnorDyqZBUU5c2SIm-E130_provenance
a
np:Provenance
.
dgn-np:NP849678.RANEQqkv5CAxG0P8nqk678tsy7PnorDyqZBUU5c2SIm-E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP849678.RANEQqkv5CAxG0P8nqk678tsy7PnorDyqZBUU5c2SIm-E130_assertion
{
miriam-gene:10654
a
ncit:C16612
.
lld:C0086543
a
ncit:C7057
.
dgn-gda:DGNc7645207b0b703e895b20c0a09dbc350
sio:SIO_000628
miriam-gene:10654
,
lld:C0086543
;
a
sio:SIO_001121
.
}
dgn-np:NP849678.RANEQqkv5CAxG0P8nqk678tsy7PnorDyqZBUU5c2SIm-E130_provenance
{
dgn-np:NP849678.RANEQqkv5CAxG0P8nqk678tsy7PnorDyqZBUU5c2SIm-E130_assertion
dcterms:description
"[GHMP kinase mutations at the conserved surface residues corresponding to Ser291 and Ala293 in phosphomevalonate kinase are linked to mevalonic acid deficiency, which can lead to early fatality, and galactokinase deficiency, which causes cataracts.]. 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:15544330
;
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:NP849678.RANEQqkv5CAxG0P8nqk678tsy7PnorDyqZBUU5c2SIm-E130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:46:16+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" .
}