{"id":"49de6af1-be04-59f9-8cd0-bcdbba9cc650","stable_key":"09b23d0d-35e2-51ff-b1aa-b4f9227e4fa2:isoleucine-iars-zinc-context","predicate":"associates_with","statement":"Three individuals with biallelic IARS variants had zinc deficiency; one showed improved growth with zinc supplementation.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"context_dependent","is_public":true,"mechanism_event_id":"8cf95c42-5250-58a0-8fb7-123f6e424172","mechanism_event_label":"A coexisting nutrient shortage was documented in this rare genetic disorder.","subject":{"id":"d7b72a10-dc54-5877-815d-52a57b75b623","slug":"human-iars1-biallelic-variants","display_name":"Biallelic human IARS1 variants","entity_type_key":"cellular_process"},"object":{"id":"67a47be7-07f4-5c6f-bc72-ad1bde0d9e9e","slug":"human-iars1-zinc-deficiency","display_name":"Zinc deficiency in reported IARS1 patients","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"8cf95c42-5250-58a0-8fb7-123f6e424172","stable_key":"09b23d0d-35e2-51ff-b1aa-b4f9227e4fa2:isoleucine-iars-zinc-context-event","event_type":"observed_relationship","label":"A coexisting nutrient shortage was documented in this rare genetic disorder.","description":"Three individuals with biallelic IARS variants had zinc deficiency; one showed improved growth with zinc supplementation.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"d7b72a10-dc54-5877-815d-52a57b75b623","slug":"human-iars1-biallelic-variants","display_name":"Biallelic human IARS1 variants","entity_type_key":"cellular_process"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"67a47be7-07f4-5c6f-bc72-ad1bde0d9e9e","slug":"human-iars1-zinc-deficiency","display_name":"Zinc deficiency in reported IARS1 patients","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"c85b327e-f132-5d9a-8e4b-c2976fcc0373","slug":"isoleucine","display_name":"L-Isoleucine","entity_type_key":"small_molecule"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"fe83b156-e71e-5193-a958-0665af0e55ae","slug":"iars1","display_name":"Human cytosolic isoleucyl-tRNA synthetase / IARS1","entity_type_key":"protein"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""},{"entity":{"id":"0429f0ff-c033-514b-9a4f-6f0f83268095","slug":"zinc","display_name":"Zinc","entity_type_key":"nutrient_element"},"role":"context_participant","stoichiometry":null,"state_label":"","sequence_order":4,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"biomarker_context","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"evidence_access","value_text":"Primary abstract","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human family/variant study; yeast functional validation of variants.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"An association and one treatment observation do not establish how IARS dysfunction caused low zinc or that all isoleucine shortages deplete zinc.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"L-Isoleucine collection; species, compartment, exposure, co-substrates and manipulation remain explicit.","comparator":null,"unit":null,"notes":"","entity":{"slug":"isoleucine","display_name":"L-Isoleucine","entity_type_key":"small_molecule"}},{"dimension":"plain_language","value_text":"A coexisting nutrient shortage was documented in this rare genetic disorder.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy. · 2016 · https://pubmed.ncbi.nlm.nih.gov/27426735/ · DOI 10.1016/j.ajhg.2016.05.027","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"biomarker_context","comparator":null,"unit":null,"notes":"Imported condition classification; 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