@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:NP333638.RAAmzTnQEt2zF30JwxKf1Clm93j2VzIJv1YYnLiQLZ1Go130_head { this: np:hasAssertion dgn-np:NP333638.RAAmzTnQEt2zF30JwxKf1Clm93j2VzIJv1YYnLiQLZ1Go130_assertion; np:hasProvenance dgn-np:NP333638.RAAmzTnQEt2zF30JwxKf1Clm93j2VzIJv1YYnLiQLZ1Go130_provenance; np:hasPublicationInfo dgn-np:NP333638.RAAmzTnQEt2zF30JwxKf1Clm93j2VzIJv1YYnLiQLZ1Go130_publicationInfo; a np:Nanopublication . dgn-np:NP333638.RAAmzTnQEt2zF30JwxKf1Clm93j2VzIJv1YYnLiQLZ1Go130_assertion a np:Assertion . dgn-np:NP333638.RAAmzTnQEt2zF30JwxKf1Clm93j2VzIJv1YYnLiQLZ1Go130_provenance a np:Provenance . dgn-np:NP333638.RAAmzTnQEt2zF30JwxKf1Clm93j2VzIJv1YYnLiQLZ1Go130_publicationInfo a np:PublicationInfo . } dgn-np:NP333638.RAAmzTnQEt2zF30JwxKf1Clm93j2VzIJv1YYnLiQLZ1Go130_assertion { miriam-gene:1471 a ncit:C16612 . lld:C3839957 a ncit:C7057 . dgn-gda:DGN7e47f6c1a01c0b02512edce6b077b006 sio:SIO_000628 miriam-gene:1471, lld:C3839957; a sio:SIO_001122 . } dgn-np:NP333638.RAAmzTnQEt2zF30JwxKf1Clm93j2VzIJv1YYnLiQLZ1Go130_provenance { dgn-np:NP333638.RAAmzTnQEt2zF30JwxKf1Clm93j2VzIJv1YYnLiQLZ1Go130_assertion dcterms:description "[Hereditary cystatin C amyloid angiopathy (HCCAA) is a rare, fatal amyloid disease in young people in Iceland caused by a mutation in cystatin C, which is an inhibitor of several cysteine proteinases, such as cathepsins S, B, and K. The same mutation in cystatin C, L68Q, has been found in all patients examined so far pointing to a common founder.]. 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:16612982; 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:NP333638.RAAmzTnQEt2zF30JwxKf1Clm93j2VzIJv1YYnLiQLZ1Go130_publicationInfo { this: dcterms:created "2015-08-25T14:40:52+02:00"^^xsd:dateTime; dcterms:rights ; dcterms:rightsHolder dgn-void:IBIGroup; dcterms:subject sio:SIO_000983; prv:usedData dgn-void:disgenetv3.0rdf; pav:authoredBy , , , , ; pav:createdBy ; pav:version "v3.0.0.0" . dgn-void:disgenetv3.0rdf pav:version "v3.0.0" . }