PRO_ID Object_term Object_syny Modifier Relation Ontology_ID Ontology_term Relative_to Interaction_with Evidence_source Evidence_code Taxon Inferred_from DB_ID Date Assigned_by Comment PR:000000336 serine/threonine-protein kinase receptor R3 sequence variant E379K (human) hACVRL1/var:E379K|serine/threonine-protein kinase receptor R3 sequence variant 27 (human)|UniProtKB:P37023, Glu-379, CHEBI:29967 associated_with_disease_progression DOID:1270 hereditary hemorrhagic telangiectasia PMID:15024723|PMID:15712270 EXP NCBITaxon:9606 UniProtKB_VAR:VAR_026803 20080301 PRO:CNA