@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP889386.RAzD263KHWN13qQkdUj4KvUki14_-GggNY22Iitxo0J5E
> .
@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:NP889386.RAzD263KHWN13qQkdUj4KvUki14_-GggNY22Iitxo0J5E130_head
{
this:
np:hasAssertion
dgn-np:NP889386.RAzD263KHWN13qQkdUj4KvUki14_-GggNY22Iitxo0J5E130_assertion
;
np:hasProvenance
dgn-np:NP889386.RAzD263KHWN13qQkdUj4KvUki14_-GggNY22Iitxo0J5E130_provenance
;
np:hasPublicationInfo
dgn-np:NP889386.RAzD263KHWN13qQkdUj4KvUki14_-GggNY22Iitxo0J5E130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP889386.RAzD263KHWN13qQkdUj4KvUki14_-GggNY22Iitxo0J5E130_assertion
a
np:Assertion
.
dgn-np:NP889386.RAzD263KHWN13qQkdUj4KvUki14_-GggNY22Iitxo0J5E130_provenance
a
np:Provenance
.
dgn-np:NP889386.RAzD263KHWN13qQkdUj4KvUki14_-GggNY22Iitxo0J5E130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP889386.RAzD263KHWN13qQkdUj4KvUki14_-GggNY22Iitxo0J5E130_assertion
{
miriam-gene:875
a
ncit:C16612
.
lld:C0019880
a
ncit:C7057
.
dgn-gda:DGN1be48620d712b5d0ca723f1800a3a3f6
sio:SIO_000628
miriam-gene:875
,
lld:C0019880
;
a
sio:SIO_001121
.
}
dgn-np:NP889386.RAzD263KHWN13qQkdUj4KvUki14_-GggNY22Iitxo0J5E130_provenance
{
dgn-np:NP889386.RAzD263KHWN13qQkdUj4KvUki14_-GggNY22Iitxo0J5E130_assertion
dcterms:description
"[Homocystinuria due to cystathionine beta synthase (CBS) deficiency results in elevated plasma homocysteine and methionine levels, which are associated with multiple organ pathologies, including vascular, respiratory, musculoskeletal, nervous, and ocular tissues.]. 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:21517828
;
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:NP889386.RAzD263KHWN13qQkdUj4KvUki14_-GggNY22Iitxo0J5E130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:48:27+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" .
}