@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP375257.RA3S75Su4erWyQ_4wFizBZYV5OYczXkk4ELGHRvkO2RUs
> .
@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:NP375257.RA3S75Su4erWyQ_4wFizBZYV5OYczXkk4ELGHRvkO2RUs130_head
{
this:
np:hasAssertion
dgn-np:NP375257.RA3S75Su4erWyQ_4wFizBZYV5OYczXkk4ELGHRvkO2RUs130_assertion
;
np:hasProvenance
dgn-np:NP375257.RA3S75Su4erWyQ_4wFizBZYV5OYczXkk4ELGHRvkO2RUs130_provenance
;
np:hasPublicationInfo
dgn-np:NP375257.RA3S75Su4erWyQ_4wFizBZYV5OYczXkk4ELGHRvkO2RUs130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP375257.RA3S75Su4erWyQ_4wFizBZYV5OYczXkk4ELGHRvkO2RUs130_assertion
a
np:Assertion
.
dgn-np:NP375257.RA3S75Su4erWyQ_4wFizBZYV5OYczXkk4ELGHRvkO2RUs130_provenance
a
np:Provenance
.
dgn-np:NP375257.RA3S75Su4erWyQ_4wFizBZYV5OYczXkk4ELGHRvkO2RUs130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP375257.RA3S75Su4erWyQ_4wFizBZYV5OYczXkk4ELGHRvkO2RUs130_assertion
{
miriam-gene:54658
a
ncit:C16612
.
lld:C0037889
a
ncit:C7057
.
dgn-gda:DGNee48ffbf365daa50dff8be5683e1bdb8
sio:SIO_000628
miriam-gene:54658
,
lld:C0037889
;
a
sio:SIO_001121
.
}
dgn-np:NP375257.RA3S75Su4erWyQ_4wFizBZYV5OYczXkk4ELGHRvkO2RUs130_provenance
{
dgn-np:NP375257.RA3S75Su4erWyQ_4wFizBZYV5OYczXkk4ELGHRvkO2RUs130_assertion
dcterms:description
"[Since it is difficult to diagnose HS in the absence of signs of anemia, we evaluated both the genetic mutation in the UGT1A1 gene and abnormalities in the erythrocyte membrane protein; the former was heterozygous for a UGT1A1 allele with three mutations and the latter was partially deficient in ankyrin expression.]. 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:20924216
;
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:NP375257.RA3S75Su4erWyQ_4wFizBZYV5OYczXkk4ELGHRvkO2RUs130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:39+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" .
}