@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP518762.RAMRFwSnyWBHVEX97NWJ2rsJX_A869PcT0JKS2CMV7OpM
> .
@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:NP518762.RAMRFwSnyWBHVEX97NWJ2rsJX_A869PcT0JKS2CMV7OpM130_head
{
this:
np:hasAssertion
dgn-np:NP518762.RAMRFwSnyWBHVEX97NWJ2rsJX_A869PcT0JKS2CMV7OpM130_assertion
;
np:hasProvenance
dgn-np:NP518762.RAMRFwSnyWBHVEX97NWJ2rsJX_A869PcT0JKS2CMV7OpM130_provenance
;
np:hasPublicationInfo
dgn-np:NP518762.RAMRFwSnyWBHVEX97NWJ2rsJX_A869PcT0JKS2CMV7OpM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP518762.RAMRFwSnyWBHVEX97NWJ2rsJX_A869PcT0JKS2CMV7OpM130_assertion
a
np:Assertion
.
dgn-np:NP518762.RAMRFwSnyWBHVEX97NWJ2rsJX_A869PcT0JKS2CMV7OpM130_provenance
a
np:Provenance
.
dgn-np:NP518762.RAMRFwSnyWBHVEX97NWJ2rsJX_A869PcT0JKS2CMV7OpM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP518762.RAMRFwSnyWBHVEX97NWJ2rsJX_A869PcT0JKS2CMV7OpM130_assertion
{
miriam-gene:8517
a
ncit:C16612
.
lld:C0162359
a
ncit:C7057
.
dgn-gda:DGN67941bbd14e75e504cee263205e0a832
sio:SIO_000628
miriam-gene:8517
,
lld:C0162359
;
a
sio:SIO_001121
.
}
dgn-np:NP518762.RAMRFwSnyWBHVEX97NWJ2rsJX_A869PcT0JKS2CMV7OpM130_provenance
{
dgn-np:NP518762.RAMRFwSnyWBHVEX97NWJ2rsJX_A869PcT0JKS2CMV7OpM130_assertion
dcterms:description
"[Patients with anhidrotic ectodermal dysplasia and immunodeficiency, which is caused by mutations in NEMO and IKBA, have sparse hair, dry skin, and conical teeth and are at increased risk of severe infections caused by pyogenic bacteria and atypical mycobacteria.]. 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:16237643
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
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:NP518762.RAMRFwSnyWBHVEX97NWJ2rsJX_A869PcT0JKS2CMV7OpM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:40+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" .
}