{"id":"1ed0d33d-e8af-5964-a25f-b46887a06a19","stable_key":"ec174d5a-4903-5745-8646-df0e9d4265e8:folate-folr1-csf-peripheral-dissociation","predicate":"reduces","statement":"Two siblings with FOLR1 Q118X/C175X variants had severe CSF folate depletion despite unremarkable plasma and erythrocyte folate.","claim_class":"mechanistic","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"611642ea-5359-5323-b0ae-277f8e41b82f","mechanism_event_label":"Normal blood folate did not exclude impaired brain delivery.","subject":{"id":"bc3d11a6-6166-57e3-9d17-ea28e5079e9d","slug":"human-folr1-q118x-c175x","display_name":"Human compound-heterozygous FOLR1 Q118X/C175X genotype","entity_type_key":"gene"},"object":{"id":"a3fa877b-18b5-59cd-b4dd-ba2eb99bbb04","slug":"csf-5-methyltetrahydrofolate-concentration","display_name":"CSF 5-methyltetrahydrofolate concentration","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"611642ea-5359-5323-b0ae-277f8e41b82f","stable_key":"ec174d5a-4903-5745-8646-df0e9d4265e8:folate-folr1-csf-peripheral-dissociation-event","event_type":"biochemical_relationship","label":"Normal blood folate did not exclude impaired brain delivery.","description":"Two siblings with FOLR1 Q118X/C175X variants had severe CSF folate depletion despite unremarkable plasma and erythrocyte folate.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"bc3d11a6-6166-57e3-9d17-ea28e5079e9d","slug":"human-folr1-q118x-c175x","display_name":"Human compound-heterozygous FOLR1 Q118X/C175X genotype","entity_type_key":"gene"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"a3fa877b-18b5-59cd-b4dd-ba2eb99bbb04","slug":"csf-5-methyltetrahydrofolate-concentration","display_name":"CSF 5-methyltetrahydrofolate concentration","entity_type_key":"cellular_process"},"role":"object","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"be1ac928-974c-58e2-b200-6621ac786886","slug":"folr1","display_name":"Human folate receptor alpha / FOLR1","entity_type_key":"protein"},"role":"affected receptor","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"23f48782-478e-5f62-874a-31273c075fe7","slug":"5-methyltetrahydrofolate","display_name":"5-Methyltetrahydrofolate","entity_type_key":"small_molecule"},"role":"measured vitamer","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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