@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1218144.RACiTqQqgQh7wx83zGGQXWy1tjJOFlkJdZ46oPDRmGwSE
> .
@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:NP1218144.RACiTqQqgQh7wx83zGGQXWy1tjJOFlkJdZ46oPDRmGwSE130_head
{
this:
np:hasAssertion
dgn-np:NP1218144.RACiTqQqgQh7wx83zGGQXWy1tjJOFlkJdZ46oPDRmGwSE130_assertion
;
np:hasProvenance
dgn-np:NP1218144.RACiTqQqgQh7wx83zGGQXWy1tjJOFlkJdZ46oPDRmGwSE130_provenance
;
np:hasPublicationInfo
dgn-np:NP1218144.RACiTqQqgQh7wx83zGGQXWy1tjJOFlkJdZ46oPDRmGwSE130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1218144.RACiTqQqgQh7wx83zGGQXWy1tjJOFlkJdZ46oPDRmGwSE130_assertion
a
np:Assertion
.
dgn-np:NP1218144.RACiTqQqgQh7wx83zGGQXWy1tjJOFlkJdZ46oPDRmGwSE130_provenance
a
np:Provenance
.
dgn-np:NP1218144.RACiTqQqgQh7wx83zGGQXWy1tjJOFlkJdZ46oPDRmGwSE130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1218144.RACiTqQqgQh7wx83zGGQXWy1tjJOFlkJdZ46oPDRmGwSE130_assertion
{
miriam-gene:10519
a
ncit:C16612
.
lld:C1839163
a
ncit:C7057
.
dgn-gda:DGN9497f741bbc8d5b3e5cde5429232f430
sio:SIO_000628
miriam-gene:10519
,
lld:C1839163
;
a
sio:SIO_001121
.
}
dgn-np:NP1218144.RACiTqQqgQh7wx83zGGQXWy1tjJOFlkJdZ46oPDRmGwSE130_provenance
{
dgn-np:NP1218144.RACiTqQqgQh7wx83zGGQXWy1tjJOFlkJdZ46oPDRmGwSE130_assertion
dcterms:description
"[The majority of missense mutations causing WAS and XLT are found in the WH1 (WASP Homology) domain of WASP, known to mediate interaction with WIP (WASP Interacting Protein) and CIB1 (Calcium and Integrin Binding).]. 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:25200405
;
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:NP1218144.RACiTqQqgQh7wx83zGGQXWy1tjJOFlkJdZ46oPDRmGwSE130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:50:58+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" .
}