@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP653032.RAfJ0EAwFPQcisGJ63xQi9MFl8yXpOcKpvxd1R7qDXXCw
> .
@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:NP653032.RAfJ0EAwFPQcisGJ63xQi9MFl8yXpOcKpvxd1R7qDXXCw130_head
{
this:
np:hasAssertion
dgn-np:NP653032.RAfJ0EAwFPQcisGJ63xQi9MFl8yXpOcKpvxd1R7qDXXCw130_assertion
;
np:hasProvenance
dgn-np:NP653032.RAfJ0EAwFPQcisGJ63xQi9MFl8yXpOcKpvxd1R7qDXXCw130_provenance
;
np:hasPublicationInfo
dgn-np:NP653032.RAfJ0EAwFPQcisGJ63xQi9MFl8yXpOcKpvxd1R7qDXXCw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP653032.RAfJ0EAwFPQcisGJ63xQi9MFl8yXpOcKpvxd1R7qDXXCw130_assertion
a
np:Assertion
.
dgn-np:NP653032.RAfJ0EAwFPQcisGJ63xQi9MFl8yXpOcKpvxd1R7qDXXCw130_provenance
a
np:Provenance
.
dgn-np:NP653032.RAfJ0EAwFPQcisGJ63xQi9MFl8yXpOcKpvxd1R7qDXXCw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP653032.RAfJ0EAwFPQcisGJ63xQi9MFl8yXpOcKpvxd1R7qDXXCw130_assertion
{
miriam-gene:65125
a
ncit:C16612
.
lld:C0278134
a
ncit:C7057
.
dgn-gda:DGN5781b0f9f377d96eb32b85fb55900360
sio:SIO_000628
miriam-gene:65125
,
lld:C0278134
;
a
sio:SIO_001121
.
}
dgn-np:NP653032.RAfJ0EAwFPQcisGJ63xQi9MFl8yXpOcKpvxd1R7qDXXCw130_provenance
{
dgn-np:NP653032.RAfJ0EAwFPQcisGJ63xQi9MFl8yXpOcKpvxd1R7qDXXCw130_assertion
dcterms:description
"[Among these, HSAN type 2 (HSAN2; MIM 201300) is a rare recessive disease that is characterized by an early age of onset with distal and proximal sensory loss, dysfunction of the autonomic nervous system, loss of the tendon reflex, the presence of various mutilations, and the slow progression of the disease over time.]. 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:16946995
;
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:NP653032.RAfJ0EAwFPQcisGJ63xQi9MFl8yXpOcKpvxd1R7qDXXCw130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:38:33+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" .
}