@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1304252.RAmz1oiWMMMeapK3N36clw4fuJlAAwgijr7Oqkoq7kGkg
> .
@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:NP1304252.RAmz1oiWMMMeapK3N36clw4fuJlAAwgijr7Oqkoq7kGkg130_head
{
this:
np:hasAssertion
dgn-np:NP1304252.RAmz1oiWMMMeapK3N36clw4fuJlAAwgijr7Oqkoq7kGkg130_assertion
;
np:hasProvenance
dgn-np:NP1304252.RAmz1oiWMMMeapK3N36clw4fuJlAAwgijr7Oqkoq7kGkg130_provenance
;
np:hasPublicationInfo
dgn-np:NP1304252.RAmz1oiWMMMeapK3N36clw4fuJlAAwgijr7Oqkoq7kGkg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP1304252.RAmz1oiWMMMeapK3N36clw4fuJlAAwgijr7Oqkoq7kGkg130_assertion
a
np:Assertion
.
dgn-np:NP1304252.RAmz1oiWMMMeapK3N36clw4fuJlAAwgijr7Oqkoq7kGkg130_provenance
a
np:Provenance
.
dgn-np:NP1304252.RAmz1oiWMMMeapK3N36clw4fuJlAAwgijr7Oqkoq7kGkg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP1304252.RAmz1oiWMMMeapK3N36clw4fuJlAAwgijr7Oqkoq7kGkg130_assertion
{
miriam-gene:100
a
ncit:C16612
.
lld:C0021051
a
ncit:C7057
.
dgn-gda:DGN79668d7869f6f7c3e2a48856db7de07a
sio:SIO_000628
miriam-gene:100
,
lld:C0021051
;
a
sio:SIO_001121
.
}
dgn-np:NP1304252.RAmz1oiWMMMeapK3N36clw4fuJlAAwgijr7Oqkoq7kGkg130_provenance
{
dgn-np:NP1304252.RAmz1oiWMMMeapK3N36clw4fuJlAAwgijr7Oqkoq7kGkg130_assertion
dcterms:description
"[Genetic partial deficiency of ADA, with no detectable enzyme activity in erythrocytes but with variable amounts of enzyme activity detectable in other cells, is usually associated with normal immunologic function but can give rise to a late-onset, cellular immunodeficiency syndrome.]. 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:3946419
;
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:NP1304252.RAmz1oiWMMMeapK3N36clw4fuJlAAwgijr7Oqkoq7kGkg130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:51:37+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" .
}