{"id":"W1973803664","doi":"10.1186/1471-2350-8-79","title":"Sphingomyelin phosphodiesterase-1 (SMPD1) coding variants do not contribute to low levels of high-density lipoprotein cholesterol","year":2007,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Royal Victoria Hospital; McGill University Health Centre; Royal Victoria Regional Health Centre","funders":"Canadian Institutes of Health Research; McGill University; Heart and Stroke Foundation of Canada","keywords":"Acid sphingomyelinase; Haplotype; Cholesterol; Endocrinology; Allele; Biology; Internal medicine; Allele frequency; Genetics; High-density lipoprotein; Locus (genetics); Sphingomyelin; Gene; Medicine","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003335671,0.0004349462,0.0003060872,0.0006167825,0.0005618738,0.0003781803,0.0003888717,0.0005146239,0.003200433],"category_scores_gemma":[0.002176796,0.0001597173,0.0001823266,0.0005852334,0.0005973974,0.000128573,0.0001989724,0.0002766961,0.0003176977],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004231673,"about_ca_system_score_gemma":0.0005741366,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02721976,"about_ca_topic_score_gemma":0.01981531,"domain_scores_codex":[0.9996561,0.00004557619,0.00003405228,0.0001034261,0.00007905115,0.00008183438],"domain_scores_gemma":[0.9990533,0.0002445234,0.0003332865,0.00008579765,0.0001279518,0.0001551966],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001020137,0.00007225663,0.9789843,0.00005457948,0.0001701864,0.002046684,0.0002635469,0.00008403558,0.01065728,0.0001076677,0.0002684718,0.006271046],"study_design_scores_gemma":[0.00007398391,0.0002166142,0.9889923,0.00002413306,0.0002118718,0.007976345,0.0001495711,0.0002460961,0.001130222,0.0001123234,0.0008601884,0.000006349315],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991185,0.0002848249,0.0001188854,0.00003335469,0.000005300943,0.000006154042,0.0001041718,0.000004878487,0.0003238459],"genre_scores_gemma":[0.9995528,0.00008191126,0.00007592644,0.00001621592,0.000009729899,0.000002043342,0.0001352765,0.000002110198,0.0001240509],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02721976,"threshold_uncertainty_score":0.05412269,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03818043963585581,"score_gpt":0.323365732681254,"score_spread":0.2851852930453981,"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."}}