@prefix orcid: . @prefix this: . @prefix rdfs: . @prefix xsd: . @prefix sio: . @prefix ncit: . @prefix lld: . @prefix miriam-gene: . @prefix miriam-pubmed: . @prefix eco: . @prefix wi: . @prefix prov: . @prefix pav: . @prefix prv: . @prefix dcterms: . @prefix np: . @prefix dgn-np: . @prefix dgn-gda: . @prefix dgn-void: . dgn-np:NP258580.RAv5F9GSVg7umnc8mm4hHB61UfjW-kGfLIm_inESg-kjw130_head { this: np:hasAssertion dgn-np:NP258580.RAv5F9GSVg7umnc8mm4hHB61UfjW-kGfLIm_inESg-kjw130_assertion; np:hasProvenance dgn-np:NP258580.RAv5F9GSVg7umnc8mm4hHB61UfjW-kGfLIm_inESg-kjw130_provenance; np:hasPublicationInfo dgn-np:NP258580.RAv5F9GSVg7umnc8mm4hHB61UfjW-kGfLIm_inESg-kjw130_publicationInfo; a np:Nanopublication . dgn-np:NP258580.RAv5F9GSVg7umnc8mm4hHB61UfjW-kGfLIm_inESg-kjw130_assertion a np:Assertion . dgn-np:NP258580.RAv5F9GSVg7umnc8mm4hHB61UfjW-kGfLIm_inESg-kjw130_provenance a np:Provenance . dgn-np:NP258580.RAv5F9GSVg7umnc8mm4hHB61UfjW-kGfLIm_inESg-kjw130_publicationInfo a np:PublicationInfo . } dgn-np:NP258580.RAv5F9GSVg7umnc8mm4hHB61UfjW-kGfLIm_inESg-kjw130_assertion { miriam-gene:567 a ncit:C16612 . lld:C0268381 a ncit:C7057 . dgn-gda:DGNc0c35214032c57c66886623992c9bd4a sio:SIO_000628 miriam-gene:567, lld:C0268381; a sio:SIO_001121 . } dgn-np:NP258580.RAv5F9GSVg7umnc8mm4hHB61UfjW-kGfLIm_inESg-kjw130_provenance { dgn-np:NP258580.RAv5F9GSVg7umnc8mm4hHB61UfjW-kGfLIm_inESg-kjw130_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:NP258580.RAv5F9GSVg7umnc8mm4hHB61UfjW-kGfLIm_inESg-kjw130_publicationInfo { this: dcterms:created "2015-08-25T14:40:07+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy orcid:0000-0001-5999-6269, orcid:0000-0002-7534-7661, orcid:0000-0002-9383-528X, orcid:0000-0003-0169-8159, orcid:0000-0003-1244-7654; pav:createdBy orcid:0000-0003-0169-8159; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }