@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM
> .
@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 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:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_head
{
this:
np:hasAssertion
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion
;
np:hasProvenance
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_provenance
;
np:hasPublicationInfo
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion
a
np:Assertion
.
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_provenance
a
np:Provenance
.
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion
{
miriam-gene:2582
a
ncit:C16612
.
lld:C0751161
a
ncit:C7057
.
dgn-gda:DGNdbc42b03fa422158040c1a01ae0056c8
sio:SIO_000628
miriam-gene:2582
,
lld:C0751161
;
a
sio:SIO_001122
.
}
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_provenance
{
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_assertion
dc:description
"[These results are consistent with the apparently benign status of peripheral epimerase deficiency galactosemia, but leave open the question of why patients with these substitutions demonstrate GALE deficiency in their red blood cells.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:15639193
;
prov:wasDerivedFrom
dgn-void:uniprot-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
}
dgn-np:NP3585.RA498LmktD_SKQ_xHijBvYNqVHzh7O5IYKvg-3nOh9rHM130_publicationInfo
{
this:
dc:created
"2015-08-25T14:37:43+02:00"^^
xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dc:rightsHolder
dgn-void:IBIGroup
;
dc:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}