@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP954032.RAdoGTYAz8zyeW4uc927RjKFnMIg22UUWpScPldsMkxzY
> .
@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:NP954032.RAdoGTYAz8zyeW4uc927RjKFnMIg22UUWpScPldsMkxzY130_head
{
this:
np:hasAssertion
dgn-np:NP954032.RAdoGTYAz8zyeW4uc927RjKFnMIg22UUWpScPldsMkxzY130_assertion
;
np:hasProvenance
dgn-np:NP954032.RAdoGTYAz8zyeW4uc927RjKFnMIg22UUWpScPldsMkxzY130_provenance
;
np:hasPublicationInfo
dgn-np:NP954032.RAdoGTYAz8zyeW4uc927RjKFnMIg22UUWpScPldsMkxzY130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP954032.RAdoGTYAz8zyeW4uc927RjKFnMIg22UUWpScPldsMkxzY130_assertion
a
np:Assertion
.
dgn-np:NP954032.RAdoGTYAz8zyeW4uc927RjKFnMIg22UUWpScPldsMkxzY130_provenance
a
np:Provenance
.
dgn-np:NP954032.RAdoGTYAz8zyeW4uc927RjKFnMIg22UUWpScPldsMkxzY130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP954032.RAdoGTYAz8zyeW4uc927RjKFnMIg22UUWpScPldsMkxzY130_assertion
{
miriam-gene:2548
a
ncit:C16612
.
lld:C0017921
a
ncit:C7057
.
dgn-gda:DGNb7b491b949e40233643ca794b22c9049
sio:SIO_000628
miriam-gene:2548
,
lld:C0017921
;
a
sio:SIO_001121
.
}
dgn-np:NP954032.RAdoGTYAz8zyeW4uc927RjKFnMIg22UUWpScPldsMkxzY130_provenance
{
dgn-np:NP954032.RAdoGTYAz8zyeW4uc927RjKFnMIg22UUWpScPldsMkxzY130_assertion
dcterms:description
"[There is an overall trend of finding higher GAA enzyme levels in patients with onset of symptoms in adulthood when compared to patients who show clinical manifestations in early childhood, aged 0-5 years, with a rapidly progressive course, but who lack the severe characteristics of classic infantile Pompe disease.]. 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:22253258
;
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:NP954032.RAdoGTYAz8zyeW4uc927RjKFnMIg22UUWpScPldsMkxzY130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:57+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" .
}