{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001053358,0.0007678164,0.0003178586,0.0005183914,0.0001809946,0.0001679252,0.0001850739,0.0003973061,0.0007481617],"category_scores_gemma":[0.0002599353,0.0002137491,0.0003421918,0.0002532201,0.0003912693,0.0001309205,0.000453343,0.0003821995,0.0002588797],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001565086,"about_ca_system_score_gemma":0.0001311566,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004187957,"about_ca_topic_score_gemma":0.0009373071,"domain_scores_codex":[0.9998528,0.00001862508,0.00002031184,0.00003933526,0.00005084786,0.00001804305],"domain_scores_gemma":[0.9998205,0.0000354776,0.00007379676,0.00001090694,0.00001007597,0.00004919531],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000326507,0.00004338671,0.02581106,0.0001211702,0.0001281414,0.01398476,0.000141743,0.000276673,0.9521536,0.0001484616,0.000177401,0.006687015],"study_design_scores_gemma":[0.0001492913,0.0006021944,0.563149,0.00004551915,0.0002616121,0.1528392,0.0002569546,0.003110443,0.2737713,0.0004862679,0.005274667,0.00005349241],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9975465,0.0005238036,0.001120805,0.0000350575,0.000007432172,0.00001441425,0.0001879303,0.00005610459,0.0005079698],"genre_scores_gemma":[0.9976923,0.0004449034,0.001071693,0.00003577064,0.000008413095,0.000009730144,0.0003081231,0.00001837985,0.000410585],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0007678164,"threshold_uncertainty_score":0.002502859,"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."}}