@prefix dct: <
http://purl.org/dc/terms/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP3010.RAODr3XXDosaUrVESEw0nCPPSS_KnAN4RHdEZpkoabCbw
> .
@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 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:NP3010.RAODr3XXDosaUrVESEw0nCPPSS_KnAN4RHdEZpkoabCbw130_head
{
this:
np:hasAssertion
dgn-np:NP3010.RAODr3XXDosaUrVESEw0nCPPSS_KnAN4RHdEZpkoabCbw130_assertion
;
np:hasProvenance
dgn-np:NP3010.RAODr3XXDosaUrVESEw0nCPPSS_KnAN4RHdEZpkoabCbw130_provenance
;
np:hasPublicationInfo
dgn-np:NP3010.RAODr3XXDosaUrVESEw0nCPPSS_KnAN4RHdEZpkoabCbw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP3010.RAODr3XXDosaUrVESEw0nCPPSS_KnAN4RHdEZpkoabCbw130_assertion
a
np:Assertion
.
dgn-np:NP3010.RAODr3XXDosaUrVESEw0nCPPSS_KnAN4RHdEZpkoabCbw130_provenance
a
np:Provenance
.
dgn-np:NP3010.RAODr3XXDosaUrVESEw0nCPPSS_KnAN4RHdEZpkoabCbw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP3010.RAODr3XXDosaUrVESEw0nCPPSS_KnAN4RHdEZpkoabCbw130_assertion
{
miriam-gene:5621
a
ncit:C16612
.
lld:C0022336
a
ncit:C7057
.
dgn-gda:DGN7ade8e19b1c2272d4b7c59fc0fba25bd
sio:SIO_000628
miriam-gene:5621
,
lld:C0022336
;
a
sio:SIO_001122
.
}
dgn-np:NP3010.RAODr3XXDosaUrVESEw0nCPPSS_KnAN4RHdEZpkoabCbw130_provenance
{
dgn-np:NP3010.RAODr3XXDosaUrVESEw0nCPPSS_KnAN4RHdEZpkoabCbw130_assertion
dct:description
"[The Met129, Asn178 allele segregated with FFI in all 15 affected members of five kindreds whereas the Val129, Asn178 allele segregated with the familial CJD subtype in all 15 affected members of six kindreds.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:1439789
;
prov:wasDerivedFrom
dgn-void:uniprot-2016
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-2016
pav:importedOn
"2016-01-25"^^
xsd:date
.
}
dgn-np:NP3010.RAODr3XXDosaUrVESEw0nCPPSS_KnAN4RHdEZpkoabCbw130_publicationInfo
{
this:
dct:created
"2016-05-13T12:41:51+02:00"^^
xsd:dateTime
;
dct:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dct:rightsHolder
dgn-void:IBIGroup
;
dct: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" .
}