@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k
> .
@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:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_head
{
this:
np:hasAssertion
dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_assertion
;
np:hasProvenance
dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_provenance
;
np:hasPublicationInfo
dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_assertion
a
np:Assertion
.
dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_provenance
a
np:Provenance
.
dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_assertion
{
miriam-gene:5498
a
ncit:C16612
.
lld:C0162532
a
ncit:C7057
.
dgn-gda:DGN9f45f82ba2d6ba86b2759ee3317b711c
sio:SIO_000628
miriam-gene:5498
,
lld:C0162532
;
a
sio:SIO_001122
.
}
dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_provenance
{
dgn-np:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_assertion
dc:description
"[Two new mutations that predicted amino acid substitutions with significant effects on enzyme function were detected in conserved regions of the protoporphyrinogen oxidase gene in one Aboriginal variegate porphyria patient and the possible fourth case.]. 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:12380696
;
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:NP2773.RAenTTa0DxlgDy-LCoGH82d98rD9BDTMGUPwmi58rQK3k130_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" .
}