{"id":"W2583432826","doi":"10.1172/jci89626","title":"Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency","year":2017,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Renal Diseases and Glomerulopathies","field":"Medicine","cited_by":208,"is_retracted":false,"has_abstract":true,"ca_institutions":"Calgary Laboratory Services; McGill University; Alberta Health Services","funders":"National Cancer Institute; National Human Genome Research Institute; National Health and Medical Research Council; Agence Nationale de la Recherche; National Center of Competence in Research Chemical Biology; National Center for Advancing Translational Sciences; National Research Foundation of Korea; Medical Research Council; Deutsche Akademie der Naturforscher Leopoldina - Nationale Akademie der Wissenschaften; Yonsei University; Yonsei University College of Medicine; Deutsche Forschungsgemeinschaft; National Research Foundation; National Institute of General Medical Sciences; Ontario Genomics Institute; Australian National University; European Commission; National Institute of Diabetes and Digestive and Kidney Diseases; ASN Foundation for Kidney Research; SystemsX.ch; Institut des maladies génétiques Imagine; Swim Across America; Sociedad Española de Nefrología; National Institutes of Health; Yale University; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Ontario Genomics; Genome Canada; Canadian Institutes of Health Research; National Science Foundation","keywords":"Biology; Ichthyosis; Nephrotic syndrome; Slit diaphragm; Missense mutation; Mutation; Phenotype; Adrenal insufficiency; Endocrinology; Internal medicine; Genetics; Medicine; Gene; Kidney; Podocyte","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008408338,0.0001126361,0.0004242627,0.0001380057,0.0001521417,0.0001033398,0.00009716788,0.00008766761,0.00001533233],"category_scores_gemma":[0.002980153,0.0000765244,0.0001121095,0.0001222919,0.0005081827,0.0005181358,0.00002999168,0.0003535048,0.000003298492],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002254282,"about_ca_system_score_gemma":0.0003253316,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008051728,"about_ca_topic_score_gemma":0.00004932582,"domain_scores_codex":[0.9983222,0.00007466877,0.0009787453,0.0001515433,0.0003375337,0.000135304],"domain_scores_gemma":[0.9978106,0.000213307,0.00105937,0.0002168285,0.000301219,0.0003986826],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005329391,0.0003303096,0.9909486,0.00007083079,0.00006708581,0.0002505555,0.0001991955,0.00005721452,0.0003626156,0.0002175938,0.0002378984,0.006725213],"study_design_scores_gemma":[0.002896364,0.001334376,0.9921225,0.00078702,0.0002926984,0.0001344031,0.00006879043,0.0006890498,0.0004485935,0.0009284882,0.000209361,0.00008831838],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.993605,0.0005961482,0.00009794467,0.005289031,0.0001482367,0.0001233938,0.000004644976,0.000006342192,0.0001292737],"genre_scores_gemma":[0.9960432,0.0008613033,0.002064056,0.0007027564,0.0002664945,0.000002797654,0.000004173009,0.00001073033,0.00004449715],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006636895,"threshold_uncertainty_score":0.3567736,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07279641078227955,"score_gpt":0.3840905821315097,"score_spread":0.3112941713492302,"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."}}