@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM
> .
@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:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_head
{
this:
np:hasAssertion
dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_assertion
;
np:hasProvenance
dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_provenance
;
np:hasPublicationInfo
dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_assertion
a
np:Assertion
.
dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_provenance
a
np:Provenance
.
dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_assertion
{
miriam-gene:2717
a
ncit:C16612
.
lld:C0002986
a
ncit:C7057
.
dgn-gda:DGNea74e2d610e8f0bf50b46024d8235907
sio:SIO_000628
miriam-gene:2717
,
lld:C0002986
;
a
sio:SIO_001121
.
}
dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_provenance
{
dgn-np:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_assertion
dcterms:description
"[A large cohort of patients with Fabry disease is being studied to determine the natural history of the disease and how this relates to the specific mutation involved and the amount of residual alpha-galactosidase A activity.]. 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:11758674
;
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:NP340410.RAniuKLtjfuDKA9wKdH80cJMWu3sMf3je3x2L7rBkq-SM130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:44:19+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" .
}