{"id":"74c6425c-3235-502f-8207-9d1a980a5e96","stable_key":"7fc92b9e-9cbf-556e-8719-6b5244625250:b12-abs-gif-genetic-malabsorption","predicate":"impairs","statement":"Biallelic GIF mutations in seven families with juvenile cobalamin deficiency identified inherited intrinsic-factor deficiency in cases initially suspected to have receptor-mediated IGS.","claim_class":"observational","status":"source_derived_draft","evidence_grade":"ungraded","direction":"negative","is_public":true,"mechanism_event_id":"d7333a6f-ea2f-5c17-abb7-c599044405da","mechanism_event_label":"Some inherited absorption failures originate in intrinsic factor.","subject":{"id":"74d71074-221a-555f-97e3-704effa3cc15","slug":"human-gif-disease-genotypes","display_name":"Human biallelic GIF disease genotypes in Tanner 2005","entity_type_key":"gene"},"object":{"id":"8c0f397a-9cad-554f-ac5b-bb51bf1be2ac","slug":"intestinal-cobalamin-absorption","display_name":"Intestinal cobalamin absorption","entity_type_key":"cellular_process"},"evidence_count":1,"mechanism_event":{"id":"d7333a6f-ea2f-5c17-abb7-c599044405da","stable_key":"7fc92b9e-9cbf-556e-8719-6b5244625250:b12-abs-gif-genetic-malabsorption-event","event_type":"observed_intervention","label":"Some inherited absorption failures originate in intrinsic factor.","description":"Biallelic GIF mutations in seven families with juvenile cobalamin deficiency identified inherited intrinsic-factor deficiency in cases initially suspected to have receptor-mediated IGS.","status":"provisional","compartment":null,"participants":[{"entity":{"id":"b6d9b937-895d-5e0a-8cc5-0454a0b7d373","slug":"vitamin-b12","display_name":"Vitamin B12 (cobalamins)","entity_type_key":"chemical_species"},"role":"nutrient","stoichiometry":null,"state_label":"","sequence_order":0,"notes":""},{"entity":{"id":"490161eb-b7f8-56b6-82bc-77c8c0bdc1ca","slug":"gif","display_name":"Human gastric intrinsic factor / GIF","entity_type_key":"protein"},"role":"encoded-protein","stoichiometry":null,"state_label":"","sequence_order":1,"notes":""},{"entity":{"id":"74d71074-221a-555f-97e3-704effa3cc15","slug":"human-gif-disease-genotypes","display_name":"Human biallelic GIF disease genotypes in Tanner 2005","entity_type_key":"gene"},"role":"subject","stoichiometry":null,"state_label":"","sequence_order":2,"notes":""},{"entity":{"id":"8c0f397a-9cad-554f-ac5b-bb51bf1be2ac","slug":"intestinal-cobalamin-absorption","display_name":"Intestinal cobalamin absorption","entity_type_key":"cellular_process"},"role":"target","stoichiometry":null,"state_label":"","sequence_order":3,"notes":""}]},"contexts":[{"dimension":"availability_state","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null},{"dimension":"cross_nutrient","value_text":"false","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"experimental_model","value_text":"Human family linkage and sequencing study","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"exposure","value_text":"Inherited GIF variants","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"limitations","value_text":"Genetic classification; not evidence that all variants or all malabsorption have the same cause. Earlier absorption tests were inconclusive.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"nutrient_topic","value_text":"Vitamin B12 research collection; topical membership is not evidence of a direct dietary effect.","comparator":null,"unit":null,"notes":"","entity":{"slug":"vitamin-b12","display_name":"Vitamin B12 (cobalamins)","entity_type_key":"chemical_species"}},{"dimension":"organism","value_text":"Homo sapiens","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"plain_language","value_text":"Some inherited absorption failures originate in intrinsic factor.","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"primary_references","value_text":"[tanner-2005-gif] Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. (2005). https://pubmed.ncbi.nlm.nih.gov/15738392/ DOI: 10.1073/pnas.0500517102","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"tissue_or_cell_type","value_text":"Gastric intrinsic factor/intestinal absorption pathway","comparator":null,"unit":null,"notes":"","entity":null},{"dimension":"trigger_kind","value_text":"machinery_impairment","comparator":null,"unit":null,"notes":"Imported condition classification; unverified.","entity":null}],"evidence":[{"id":"2dc28781-9cc6-51f7-b7eb-614f9ff40d16","evidence_kind":"source_excerpt","locator":"Lines 309-320","start_line":309,"end_line":320,"excerpt":"### b12-abs-gif-genetic-malabsorption\nBiallelic GIF mutations in seven families with juvenile cobalamin deficiency identified inherited intrinsic-factor deficiency in cases initially suspected to have receptor-mediated IGS.\nCondition category: machinery_impairment\nnutrient_topic: Vitamin B12 research collection; topical membership is not evidence of a direct dietary effect.\nplain_language: Some inherited absorption failures originate in intrinsic factor.\norganism: Homo sapiens\ntissue_or_cell_type: Gastric intrinsic factor/intestinal absorption pathway\nexperimental_model: Human family linkage and sequencing study\nlimitations: Genetic classification; not evidence that all variants or all malabsorption have the same cause. Earlier absorption tests were inconclusive.\nexposure: Inherited GIF variants\ncross_nutrient: false\n[tanner-2005-gif] Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. (2005). https://pubmed.ncbi.nlm.nih.gov/15738392/ DOI: 10.1073/pnas.0500517102","model_system":"Human family linkage and sequencing study","directness":"author_interpretation","verification_status":"source_derived_draft","notes":"Exact curation-document quotation, not publisher quotation. Study references: [tanner-2005-gif] Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene. (2005). https://pubmed.ncbi.nlm.nih.gov/15738392/ DOI: 10.1073/pnas.0500517102","relationship":"supports","weight":1.0,"link_notes":"","source":{"id":"73145023-2982-5848-aff2-8d8875d6b9c5","stable_key":"import-7fc92b9e-9cbf-556e-8719-6b5244625250","title":"Vitamin B12: mechanisms, deficiency and nutrient interactions (2026-09-17)","document_type":"imported_text","citation_label":"AI-assisted literature curation; primary study URLs and scope retained in the document and extraction. Not publisher full text.","file_path":"","sha256":"ad5b3a51d36e856aa7fdfd1cc23f690b094689bad87d28e1a621a54675a01c92","revision_id":"118bd616-0c13-549f-bfeb-bc439715b89c","review_status":"unverified_draft","notes":""}}],"relations":[],"conflicts":[],"corrections":[],"research":null}