@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP802289.RAIMiv3EIAUFpc6pz0B5POReoYtjOUR6VqFPkOkoCqnJo
> .
@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:NP802289.RAIMiv3EIAUFpc6pz0B5POReoYtjOUR6VqFPkOkoCqnJo130_head
{
this:
np:hasAssertion
dgn-np:NP802289.RAIMiv3EIAUFpc6pz0B5POReoYtjOUR6VqFPkOkoCqnJo130_assertion
;
np:hasProvenance
dgn-np:NP802289.RAIMiv3EIAUFpc6pz0B5POReoYtjOUR6VqFPkOkoCqnJo130_provenance
;
np:hasPublicationInfo
dgn-np:NP802289.RAIMiv3EIAUFpc6pz0B5POReoYtjOUR6VqFPkOkoCqnJo130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP802289.RAIMiv3EIAUFpc6pz0B5POReoYtjOUR6VqFPkOkoCqnJo130_assertion
a
np:Assertion
.
dgn-np:NP802289.RAIMiv3EIAUFpc6pz0B5POReoYtjOUR6VqFPkOkoCqnJo130_provenance
a
np:Provenance
.
dgn-np:NP802289.RAIMiv3EIAUFpc6pz0B5POReoYtjOUR6VqFPkOkoCqnJo130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP802289.RAIMiv3EIAUFpc6pz0B5POReoYtjOUR6VqFPkOkoCqnJo130_assertion
{
miriam-gene:54968
a
ncit:C16612
.
lld:C0342779
a
ncit:C7057
.
dgn-gda:DGNdfdb8f783cbbbeee54e71d6333421555
sio:SIO_000628
miriam-gene:54968
,
lld:C0342779
;
a
sio:SIO_001121
.
}
dgn-np:NP802289.RAIMiv3EIAUFpc6pz0B5POReoYtjOUR6VqFPkOkoCqnJo130_provenance
{
dgn-np:NP802289.RAIMiv3EIAUFpc6pz0B5POReoYtjOUR6VqFPkOkoCqnJo130_assertion
dcterms:description
"[ATP synthase deficiency with mutation in TMEM70 should be considered in the diagnosis and management of critically ill neonates with early neonatal onset of muscular hypotonia, HCMP and hypospadias in boys accompanied by lactic acidosis, hyperammonaemia and 3-MGC-uria.]. 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:20335238
;
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:NP802289.RAIMiv3EIAUFpc6pz0B5POReoYtjOUR6VqFPkOkoCqnJo130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:47:48+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" .
}