@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP51689.RAXeW26HxjJWCZ-tKmqyBgLlSP4_r-EZOoIAKbBb00aoc
> .
@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/v3.0.0/void/
> .
dgn-np:NP51689.RAXeW26HxjJWCZ-tKmqyBgLlSP4_r-EZOoIAKbBb00aoc130_head
{
this:
np:hasAssertion
dgn-np:NP51689.RAXeW26HxjJWCZ-tKmqyBgLlSP4_r-EZOoIAKbBb00aoc130_assertion
;
np:hasProvenance
dgn-np:NP51689.RAXeW26HxjJWCZ-tKmqyBgLlSP4_r-EZOoIAKbBb00aoc130_provenance
;
np:hasPublicationInfo
dgn-np:NP51689.RAXeW26HxjJWCZ-tKmqyBgLlSP4_r-EZOoIAKbBb00aoc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP51689.RAXeW26HxjJWCZ-tKmqyBgLlSP4_r-EZOoIAKbBb00aoc130_assertion
a
np:Assertion
.
dgn-np:NP51689.RAXeW26HxjJWCZ-tKmqyBgLlSP4_r-EZOoIAKbBb00aoc130_provenance
a
np:Provenance
.
dgn-np:NP51689.RAXeW26HxjJWCZ-tKmqyBgLlSP4_r-EZOoIAKbBb00aoc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP51689.RAXeW26HxjJWCZ-tKmqyBgLlSP4_r-EZOoIAKbBb00aoc130_assertion
{
miriam-gene:2629
a
ncit:C16612
.
lld:C0017205
a
ncit:C7057
.
dgn-gda:DGNa44acace34994445dc0b73218bd3ec3b
sio:SIO_000628
miriam-gene:2629
,
lld:C0017205
;
a
sio:SIO_001122
.
}
dgn-np:NP51689.RAXeW26HxjJWCZ-tKmqyBgLlSP4_r-EZOoIAKbBb00aoc130_provenance
{
dgn-np:NP51689.RAXeW26HxjJWCZ-tKmqyBgLlSP4_r-EZOoIAKbBb00aoc130_assertion
dcterms:description
"[There was a marked overrepresentation of severe alleles in patients carrying the 1604A mutation, suggesting that many patients who are compound heterozygotes for 1604A are not diagnosed as having Gaucher disease because their disease is presumably so mild]. 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:12972024
;
prov:wasDerivedFrom
dgn-void:gad-20150221
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20150221
pav:importedOn
"2015-02-21"^^
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:NP51689.RAXeW26HxjJWCZ-tKmqyBgLlSP4_r-EZOoIAKbBb00aoc130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:38:08+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}