@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP721552.RAoDyhZ4sZ3IoWgdOVj_aXATfHGTAaaKgXI1HbqWDARP4
> .
@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:NP721552.RAoDyhZ4sZ3IoWgdOVj_aXATfHGTAaaKgXI1HbqWDARP4130_head
{
this:
np:hasAssertion
dgn-np:NP721552.RAoDyhZ4sZ3IoWgdOVj_aXATfHGTAaaKgXI1HbqWDARP4130_assertion
;
np:hasProvenance
dgn-np:NP721552.RAoDyhZ4sZ3IoWgdOVj_aXATfHGTAaaKgXI1HbqWDARP4130_provenance
;
np:hasPublicationInfo
dgn-np:NP721552.RAoDyhZ4sZ3IoWgdOVj_aXATfHGTAaaKgXI1HbqWDARP4130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP721552.RAoDyhZ4sZ3IoWgdOVj_aXATfHGTAaaKgXI1HbqWDARP4130_assertion
a
np:Assertion
.
dgn-np:NP721552.RAoDyhZ4sZ3IoWgdOVj_aXATfHGTAaaKgXI1HbqWDARP4130_provenance
a
np:Provenance
.
dgn-np:NP721552.RAoDyhZ4sZ3IoWgdOVj_aXATfHGTAaaKgXI1HbqWDARP4130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP721552.RAoDyhZ4sZ3IoWgdOVj_aXATfHGTAaaKgXI1HbqWDARP4130_assertion
{
miriam-gene:10558
a
ncit:C16612
.
lld:C0442874
a
ncit:C7057
.
dgn-gda:DGNf06267d6abb9f036cdce35094366bdbe
sio:SIO_000628
miriam-gene:10558
,
lld:C0442874
;
a
sio:SIO_001121
.
}
dgn-np:NP721552.RAoDyhZ4sZ3IoWgdOVj_aXATfHGTAaaKgXI1HbqWDARP4130_provenance
{
dgn-np:NP721552.RAoDyhZ4sZ3IoWgdOVj_aXATfHGTAaaKgXI1HbqWDARP4130_assertion
dcterms:description
"[Certain forms of hereditary sensory and autonomic neuropathy, especially hereditary sensory and autonomic neuropathy type I, which has minimal autonomic involvement and is more accurately termed hereditary sensory neuropathy type I, can present in a very similar fashion to certain forms of Charcot-Marie-Tooth disease (Charcot-Marie-Tooth type 2B, see below), and therefore it is important that clinicians who regularly manage patients with neuropathy are familiar with the latest developments in the hereditary sensory and autonomic neuropathies.]. 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:15367861
;
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:NP721552.RAoDyhZ4sZ3IoWgdOVj_aXATfHGTAaaKgXI1HbqWDARP4130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:39:18+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" .
}