@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP55478.RA03HUk2yu6Olz51XxzuiqSAFQnkZH_2usBAvXanhF6dc
> .
@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:NP55478.RA03HUk2yu6Olz51XxzuiqSAFQnkZH_2usBAvXanhF6dc130_head
{
this:
np:hasAssertion
dgn-np:NP55478.RA03HUk2yu6Olz51XxzuiqSAFQnkZH_2usBAvXanhF6dc130_assertion
;
np:hasProvenance
dgn-np:NP55478.RA03HUk2yu6Olz51XxzuiqSAFQnkZH_2usBAvXanhF6dc130_provenance
;
np:hasPublicationInfo
dgn-np:NP55478.RA03HUk2yu6Olz51XxzuiqSAFQnkZH_2usBAvXanhF6dc130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP55478.RA03HUk2yu6Olz51XxzuiqSAFQnkZH_2usBAvXanhF6dc130_assertion
a
np:Assertion
.
dgn-np:NP55478.RA03HUk2yu6Olz51XxzuiqSAFQnkZH_2usBAvXanhF6dc130_provenance
a
np:Provenance
.
dgn-np:NP55478.RA03HUk2yu6Olz51XxzuiqSAFQnkZH_2usBAvXanhF6dc130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP55478.RA03HUk2yu6Olz51XxzuiqSAFQnkZH_2usBAvXanhF6dc130_assertion
{
miriam-gene:3908
a
ncit:C16612
.
lld:C0023343
a
ncit:C7057
.
dgn-gda:DGN466a709180b961335a6c307b40cf181d
sio:SIO_000628
miriam-gene:3908
,
lld:C0023343
;
a
sio:SIO_001122
.
}
dgn-np:NP55478.RA03HUk2yu6Olz51XxzuiqSAFQnkZH_2usBAvXanhF6dc130_provenance
{
dgn-np:NP55478.RA03HUk2yu6Olz51XxzuiqSAFQnkZH_2usBAvXanhF6dc130_assertion
dcterms:description
"[There was no significant difference in the incidence of the polymorphisms between patients and non-patients. Remarkably, it was found that a missense mutation (T7809C) substituting valine with alanine (V2587A) was found to be more frequent in the tuberculoid type than in the lepromatous type leprosy. It is supposed that this missense mutation is one of the determinant factors in the early onset of peripheral nerve damage in Indonesian tuberculoid leprosy patients.]. 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:12100448
;
prov:wasDerivedFrom
dgn-void:gad-20130706
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:gad-20130706
pav:importedOn
"2013-07-06"^^
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:NP55478.RA03HUk2yu6Olz51XxzuiqSAFQnkZH_2usBAvXanhF6dc130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:32:26+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" .
}