http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_head http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_assertion http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_assertion http://identifiers.org/ncbigene/1471 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16612 http://linkedlifedata.com/resource/umls/id/C2931784 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C7057 http://rdf.disgenet.org/gene-disease-association.ttl#DGNbed7df557f69418b00c4e46d2c506f6e http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/1471 http://rdf.disgenet.org/gene-disease-association.ttl#DGNbed7df557f69418b00c4e46d2c506f6e http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C2931784 http://rdf.disgenet.org/gene-disease-association.ttl#DGNbed7df557f69418b00c4e46d2c506f6e http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001121 http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_provenance http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_assertion http://purl.org/dc/terms/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. http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/16612982 http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000203 http://rdf.disgenet.org/v2.1.0/void.ttl#befree-20140225 http://purl.org/pav/2.0/importedOn 2014-02-25 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000212 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations inferred from text-mining the literature. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_literature http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - LITERATURE http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://purl.org/dc/terms/created 2014-10-02T12:35:50+02:00 http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP387484.RAmfSIsJwmG2IE-P5gEyouO85BVlNsIIMcWr7V3uowaw4 http://purl.org/pav/2.0/version v2.1.0.0 http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://purl.org/pav/2.0/version v2.1.0