@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP532817.RAljyKlfz7Hqg7JBSz1q4agEVpYBKbUWhOirSQN-yIgoY
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP532817.RAljyKlfz7Hqg7JBSz1q4agEVpYBKbUWhOirSQN-yIgoY130_head
{
this:
np:hasAssertion
dgn-np:NP532817.RAljyKlfz7Hqg7JBSz1q4agEVpYBKbUWhOirSQN-yIgoY130_assertion
;
np:hasProvenance
dgn-np:NP532817.RAljyKlfz7Hqg7JBSz1q4agEVpYBKbUWhOirSQN-yIgoY130_provenance
;
np:hasPublicationInfo
dgn-np:NP532817.RAljyKlfz7Hqg7JBSz1q4agEVpYBKbUWhOirSQN-yIgoY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP532817.RAljyKlfz7Hqg7JBSz1q4agEVpYBKbUWhOirSQN-yIgoY130_assertion
a
np:Assertion
.
dgn-np:NP532817.RAljyKlfz7Hqg7JBSz1q4agEVpYBKbUWhOirSQN-yIgoY130_provenance
a
np:Provenance
.
dgn-np:NP532817.RAljyKlfz7Hqg7JBSz1q4agEVpYBKbUWhOirSQN-yIgoY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP532817.RAljyKlfz7Hqg7JBSz1q4agEVpYBKbUWhOirSQN-yIgoY130_assertion
{
miriam-gene:2235
a
ncit:C16612
.
lld:C0026986
a
ncit:C7057
.
dgn-gda:DGNff7c6c958dc01cafe9a504580a73acb3
sio:SIO_000628
miriam-gene:2235
,
lld:C0026986
;
a
sio:SIO_001121
.
}
dgn-np:NP532817.RAljyKlfz7Hqg7JBSz1q4agEVpYBKbUWhOirSQN-yIgoY130_provenance
{
dgn-np:NP532817.RAljyKlfz7Hqg7JBSz1q4agEVpYBKbUWhOirSQN-yIgoY130_assertion
dcterms:description
"[Our observations suggest that the usual explanation for the association of late-onset EPP with MPD and MDS is acquired somatic mutation of one FECH allele in bone marrow and show for the first time that the consequent overproduction of protoporphyrin may be severe enough to cause acute liver damage.]. 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:16150949
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP532817.RAljyKlfz7Hqg7JBSz1q4agEVpYBKbUWhOirSQN-yIgoY130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:21+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}