@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP8642.RAUTOJ0lzSDrM7EaDiuQiTkbDUDSTwoVfpHxQNCIbYwv4
> .
@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:NP8642.RAUTOJ0lzSDrM7EaDiuQiTkbDUDSTwoVfpHxQNCIbYwv4130_head
{
this:
np:hasAssertion
dgn-np:NP8642.RAUTOJ0lzSDrM7EaDiuQiTkbDUDSTwoVfpHxQNCIbYwv4130_assertion
;
np:hasProvenance
dgn-np:NP8642.RAUTOJ0lzSDrM7EaDiuQiTkbDUDSTwoVfpHxQNCIbYwv4130_provenance
;
np:hasPublicationInfo
dgn-np:NP8642.RAUTOJ0lzSDrM7EaDiuQiTkbDUDSTwoVfpHxQNCIbYwv4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP8642.RAUTOJ0lzSDrM7EaDiuQiTkbDUDSTwoVfpHxQNCIbYwv4130_assertion
a
np:Assertion
.
dgn-np:NP8642.RAUTOJ0lzSDrM7EaDiuQiTkbDUDSTwoVfpHxQNCIbYwv4130_provenance
a
np:Provenance
.
dgn-np:NP8642.RAUTOJ0lzSDrM7EaDiuQiTkbDUDSTwoVfpHxQNCIbYwv4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP8642.RAUTOJ0lzSDrM7EaDiuQiTkbDUDSTwoVfpHxQNCIbYwv4130_assertion
{
miriam-gene:3145
a
ncit:C16612
.
lld:C0162565
a
ncit:C7057
.
dgn-gda:DGN651d8b205666664b69dd7f56442a68db
sio:SIO_000628
miriam-gene:3145
,
lld:C0162565
;
a
sio:SIO_001122
.
}
dgn-np:NP8642.RAUTOJ0lzSDrM7EaDiuQiTkbDUDSTwoVfpHxQNCIbYwv4130_provenance
{
dgn-np:NP8642.RAUTOJ0lzSDrM7EaDiuQiTkbDUDSTwoVfpHxQNCIbYwv4130_assertion
dcterms:description
"[Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes variant acute intermittent porphyria with normal expression of the erythroid-specific enzyme.]. 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:7962538
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
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-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP8642.RAUTOJ0lzSDrM7EaDiuQiTkbDUDSTwoVfpHxQNCIbYwv4130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:41:53+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" .
}