@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI
> .
@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:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_head
{
this:
np:hasAssertion
dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_assertion
;
np:hasProvenance
dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_provenance
;
np:hasPublicationInfo
dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_assertion
a
np:Assertion
.
dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_provenance
a
np:Provenance
.
dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_assertion
{
miriam-gene:101929889
a
ncit:C16612
.
lld:C0043194
a
ncit:C7057
.
dgn-gda:DGN7398a7470731e0d938f59020f6475b9c
sio:SIO_000628
miriam-gene:101929889
,
lld:C0043194
;
a
sio:SIO_001121
.
}
dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_provenance
{
dgn-np:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_assertion
dcterms:description
"[Two explanations are plausible for the occurrence of the WAS in our patients: the WAS in the patients is attributable to an autosomal gene mutation which may regulate the sialophorin gene expression through the WAS gene, or, alternatively, the condition in this family is an autosomal recessive disorder separated etiologically from the X-linked WAS.]. 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:8546147
;
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:NP549389.RAPQkbxmqhnm-XS-olfEUdBzhkccu2KPtngA11QV6VSUI130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:37:31+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" .
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"v2.1.0" .
}