{"id":"669b6123-0148-57e9-a981-7ffb41ee43a8","stable_key":"507ed066-fd6d-5722-9223-97b66302e7e3:glycine-gars-human-variants","predicate":"associates_with","statement":"A patient with compound GARS variants had tissue respiratory-chain deficiencies and reduced GARS/complex-IV protein in fibroblasts.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"e53eafb7-b1a2-52a6-b32e-f018b1ee29b3","mechanism_event_label":"A glycine-using translation defect can affect cellular energy systems.","subject":{"id":"6c455fbe-6507-5f1a-b741-b5dbf71c52ed","slug":"human-gars1-t268i-r412c","display_name":"Human compound GARS1 T268I/R412C genotype","entity_type_key":"cellular_process"},"object":{"id":"9683d497-1c29-5e6d-8dc4-743d5190ad3b","slug":"human-gars1-respiratory-defect","display_name":"Human GARS1-associated respiratory-chain dysfunction","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"e53eafb7-b1a2-52a6-b32e-f018b1ee29b3","stable_key":"507ed066-fd6d-5722-9223-97b66302e7e3:glycine-gars-human-variants-event","event_type":"observed_relationship","label":"A glycine-using translation defect can affect cellular energy systems.","description":"A patient with compound GARS variants had tissue respiratory-chain deficiencies and reduced GARS/complex-IV protein in fibroblasts.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"6c455fbe-6507-5f1a-b741-b5dbf71c52ed","slug":"human-gars1-t268i-r412c","display_name":"Human compound GARS1 T268I/R412C genotype","entity_type_key":"cellular_process"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"9683d497-1c29-5e6d-8dc4-743d5190ad3b","slug":"human-gars1-respiratory-defect","display_name":"Human GARS1-associated respiratory-chain dysfunction","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"2b507258-430c-51fe-9fd2-e510c2c197a9","slug":"glycine","display_name":"Glycine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"64eceac0-ea3e-5c2b-b6c2-09011e4dc8e0","slug":"gars1","display_name":"Human glycyl-tRNA synthetase / GARS1","entity_type_key":"protein"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; 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