{"id":"W2139736883","doi":"10.1002/humu.20067","title":"CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia","year":2004,"lang":"en","type":"article","venue":"Human Mutation","topic":"Parathyroid Disorders and Treatments","field":"Medicine","cited_by":150,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; McGill University; Royal Victoria Hospital; Royal Victoria Regional Health Centre","funders":"Canadian Institutes of Health Research; National Cancer Institute; Kidney Foundation of Canada; McGill University","keywords":"Calcium-sensing receptor; Hypercalciuria; Hypoparathyroidism; Biology; Mutation; Missense mutation; Genetics; Asymptomatic; Genotype-phenotype distinction; Phenotype; Endocrinology; Bioinformatics; Internal medicine; Gene; Medicine; Parathyroid hormone; Calcium","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001735993,0.000457046,0.0005306291,0.0003154575,0.0008473371,0.0001100096,0.00006938375,0.0002301808,0.0000185132],"category_scores_gemma":[0.0001378082,0.0004362094,0.0001858474,0.0003328988,0.0002556852,0.0004395692,0.00005301893,0.0002722349,0.00007826617],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004559903,"about_ca_system_score_gemma":0.0002527241,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000355002,"about_ca_topic_score_gemma":0.0001296181,"domain_scores_codex":[0.9975181,0.0000615713,0.0006136798,0.0008109332,0.0004096908,0.0005860795],"domain_scores_gemma":[0.9986826,0.000189099,0.0001947952,0.0003932778,0.0002282597,0.0003120127],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.002769344,0.00160779,0.001196924,0.0002488725,0.0005225911,0.002336898,0.01024987,0.003440694,0.9268075,0.008768677,0.004495114,0.03755571],"study_design_scores_gemma":[0.297195,0.01532646,0.07041959,0.001874069,0.006628241,0.02090979,0.03195352,0.04046211,0.4448485,0.02990595,0.03018391,0.01029282],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9584731,0.002951493,0.03583523,0.0002326317,0.0002441648,0.001446078,0.000264465,0.0001345703,0.0004183069],"genre_scores_gemma":[0.9840286,0.00008316587,0.01248988,0.0001847363,0.0003192369,0.00008195984,0.002500276,0.00008662092,0.0002255612],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.481959,"threshold_uncertainty_score":0.999809,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03740295772715128,"score_gpt":0.3057429355321939,"score_spread":0.2683399778050427,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}