@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP281576.RAr1U9KcQCu2zV7Qglk5kx633oGma00_fXT31gxsP6izg
> .
@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/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@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/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP281576.RAr1U9KcQCu2zV7Qglk5kx633oGma00_fXT31gxsP6izg130_head
{
this:
np:hasAssertion
dgn-np:NP281576.RAr1U9KcQCu2zV7Qglk5kx633oGma00_fXT31gxsP6izg130_assertion
;
np:hasProvenance
dgn-np:NP281576.RAr1U9KcQCu2zV7Qglk5kx633oGma00_fXT31gxsP6izg130_provenance
;
np:hasPublicationInfo
dgn-np:NP281576.RAr1U9KcQCu2zV7Qglk5kx633oGma00_fXT31gxsP6izg130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP281576.RAr1U9KcQCu2zV7Qglk5kx633oGma00_fXT31gxsP6izg130_assertion
a
np:Assertion
.
dgn-np:NP281576.RAr1U9KcQCu2zV7Qglk5kx633oGma00_fXT31gxsP6izg130_provenance
a
np:Provenance
.
dgn-np:NP281576.RAr1U9KcQCu2zV7Qglk5kx633oGma00_fXT31gxsP6izg130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP281576.RAr1U9KcQCu2zV7Qglk5kx633oGma00_fXT31gxsP6izg130_assertion
{
miriam-gene:270
a
ncit:C16612
.
lld:C0268123
a
ncit:C7057
.
dgn-gda:DGN07b1d3d63d140187b3c7087824e51c09
sio:SIO_000628
miriam-gene:270
,
lld:C0268123
;
a
sio:SIO_001121
.
}
dgn-np:NP281576.RAr1U9KcQCu2zV7Qglk5kx633oGma00_fXT31gxsP6izg130_provenance
{
dgn-np:NP281576.RAr1U9KcQCu2zV7Qglk5kx633oGma00_fXT31gxsP6izg130_assertion
dcterms:description
"[This is the first report of primary myoadenylate deaminase deficiency with progressive weakness and atrophy caused by novel compound heterozygous mutations of AMPD1 gene, and suggests that adenosine monophosphate deaminase is closely related not only to energy metabolism but also to the development of skeletal muscle.]. 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:10996775
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
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:NP281576.RAr1U9KcQCu2zV7Qglk5kx633oGma00_fXT31gxsP6izg130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:34:39+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:disgenetrdf
;
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
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}