@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP761549.RA7iQBWc_gILrzfhKHkO-TQWHJNeJV-lsH_1ke2a0csOM
> .
@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/v3.0.0/void/
> .
dgn-np:NP761549.RA7iQBWc_gILrzfhKHkO-TQWHJNeJV-lsH_1ke2a0csOM130_head
{
this:
np:hasAssertion
dgn-np:NP761549.RA7iQBWc_gILrzfhKHkO-TQWHJNeJV-lsH_1ke2a0csOM130_assertion
;
np:hasProvenance
dgn-np:NP761549.RA7iQBWc_gILrzfhKHkO-TQWHJNeJV-lsH_1ke2a0csOM130_provenance
;
np:hasPublicationInfo
dgn-np:NP761549.RA7iQBWc_gILrzfhKHkO-TQWHJNeJV-lsH_1ke2a0csOM130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP761549.RA7iQBWc_gILrzfhKHkO-TQWHJNeJV-lsH_1ke2a0csOM130_assertion
a
np:Assertion
.
dgn-np:NP761549.RA7iQBWc_gILrzfhKHkO-TQWHJNeJV-lsH_1ke2a0csOM130_provenance
a
np:Provenance
.
dgn-np:NP761549.RA7iQBWc_gILrzfhKHkO-TQWHJNeJV-lsH_1ke2a0csOM130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP761549.RA7iQBWc_gILrzfhKHkO-TQWHJNeJV-lsH_1ke2a0csOM130_assertion
{
miriam-gene:7276
a
ncit:C16612
.
lld:C0007134
a
ncit:C7057
.
dgn-gda:DGNfe6ad6e270e8e0d86cf770210dd92143
sio:SIO_000628
miriam-gene:7276
,
lld:C0007134
;
a
sio:SIO_001121
.
}
dgn-np:NP761549.RA7iQBWc_gILrzfhKHkO-TQWHJNeJV-lsH_1ke2a0csOM130_provenance
{
dgn-np:NP761549.RA7iQBWc_gILrzfhKHkO-TQWHJNeJV-lsH_1ke2a0csOM130_assertion
dcterms:description
"[(1) Amyloid deposition composed of beta 2-microglobulin in patients on long term hemodialysis causing a carpal tunnel syndrome; (2) deposition of light chain immunoglobulin derived amyloid leading to polyneuropathy, carpal tunnel syndrome and autonomic nervous system involvement in patients with primary amyloidosis, or amyloidosis secondary to or associated with multiple myeloma, Waldenström's macroglobulinemia, non-Hodgkin's lymphoma, and solid neoplasms like hypernephroma; and (3) several types of heredofamilial amyloid polyneuropathies, which are mainly caused by a point-mutation in the transthyretin gene on chromosome 18.]. 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:8187375
;
prov:wasDerivedFrom
dgn-void:befree-20150227
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20150227
pav:importedOn
"2015-02-27"^^
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:NP761549.RA7iQBWc_gILrzfhKHkO-TQWHJNeJV-lsH_1ke2a0csOM130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:45:19+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
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}