http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_head http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://www.nanopub.org/nschema#hasAssertion http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_assertion http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://www.nanopub.org/nschema#hasProvenance http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://www.nanopub.org/nschema#hasPublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Nanopublication http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_assertion http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Assertion http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_provenance http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#Provenance http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_publicationInfo http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://www.nanopub.org/nschema#PublicationInfo http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_assertion http://identifiers.org/ncbigene/79443 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/C1864908 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#DGNfb4a84ab626e2ffa6e814f80dbaeb5d9 http://semanticscience.org/resource/SIO_000628 http://identifiers.org/ncbigene/79443 http://rdf.disgenet.org/gene-disease-association.ttl#DGNfb4a84ab626e2ffa6e814f80dbaeb5d9 http://semanticscience.org/resource/SIO_000628 http://linkedlifedata.com/resource/umls/id/C1864908 http://rdf.disgenet.org/gene-disease-association.ttl#DGNfb4a84ab626e2ffa6e814f80dbaeb5d9 http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://semanticscience.org/resource/SIO_001122 http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_provenance http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_assertion http://purl.org/dc/terms/description [Mutations in the gene encoding FYVE and coiled-coil domain containing 1 (FYCO1), a PI(3)P-binding protein family member that is associated with the exterior of autophagosomes and mediates microtubule plus-end-directed vesicle transport, were identified in 12 Pakistani families and one Arab Israeli family in which arCC had previously been mapped to the overlapping CATC2 region.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine. http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_assertion http://purl.org/ontology/wi/core#evidence http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_assertion http://semanticscience.org/resource/SIO_000772 http://identifiers.org/pubmed/21636066 http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_assertion http://www.w3.org/ns/prov#wasDerivedFrom http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724 http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_assertion http://www.w3.org/ns/prov#wasGeneratedBy http://purl.obolibrary.org/obo/eco.owl#ECO_0000218 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/1999/02/22-rdf-syntax-ns#type http://purl.obolibrary.org/obo/eco.owl#ECO_0000205 http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#comment Gene-disease associations manually curated. http://rdf.disgenet.org/v2.1.0/void.ttl#source_evidence_curated http://www.w3.org/2000/01/rdf-schema#label DisGeNET evidence - CURATED http://rdf.disgenet.org/v2.1.0/void.ttl#uniprot-20130724 http://purl.org/pav/2.0/importedOn 2013-07-24 http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk130_publicationInfo http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://purl.org/dc/terms/created 2014-10-02T12:31:59+02:00 http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://purl.org/dc/terms/rights http://opendatacommons.org/licenses/odbl/1.0/ http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://purl.org/dc/terms/rightsHolder http://rdf.disgenet.org/v2.1.0/void.ttl#IBIGroup http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://purl.org/dc/terms/subject http://semanticscience.org/resource/SIO_000983 http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://purl.org/net/provenance/ns#usedData http://rdf.disgenet.org/v2.1.0/void.ttl#disgenetrdf http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0001-5999-6269 http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-7534-7661 http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0002-9383-528X http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://purl.org/pav/2.0/authoredBy http://orcid.org/0000-0003-1244-7654 http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk http://purl.org/pav/2.0/createdBy http://orcid.org/0000-0003-0169-8159 http://rdf.disgenet.org/nanopublications.trig#NP2441.RAT0HeP7xIukpAdGTPuErRIMB0IuiJqz87UUZpB68pSqk 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