{"id":"W4415450211","doi":"10.1016/j.ekir.2025.09.053","title":"Exome-Wide Analysis Identifies a Rare EXD3 Missense Variant Associated With Diabetic Kidney Disease","year":2025,"lang":"en","type":"article","venue":"Kidney International Reports","topic":"Renal Diseases and Glomerulopathies","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Nutrition, Metabolism and Diabetes; SickKids Foundation","funders":"JDRF; National Institute of Diabetes and Digestive and Kidney Diseases; Consiliul National al Cercetarii Stiintifice; George M. O'Brien Michigan Kidney Translational Core Center; National Institutes of Health; Sigrid Juséliuksen Säätiö; Medical Research Council; Samfundet Folkhälsan; Novo Nordisk; Genesis HealthCare System; Novo Nordisk Fonden; University of Virginia; Academy of Finland; Department for the Economy; UK Research and Innovation; Science Foundation Ireland; Folkhälsanin Tutkimussäätiö; Juvenile Diabetes Research Foundation Canada; Wilhelm och Else Stockmanns Stiftelse; Helsingin ja Uudenmaan Sairaanhoitopiiri; University of Pittsburgh","keywords":"Missense mutation; Disease; Podocyte; Kidney disease; Diabetic nephropathy; Rare disease","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":[0.0007388495,0.0005277716,0.0006985365,0.0007689327,0.0005377195,0.0009061474,0.0004441879,0.0008337318,0.003316313],"category_scores_gemma":[0.001913033,0.0001838333,0.001345979,0.001721407,0.0003266319,0.0002004396,0.0006292963,0.0006279845,0.0002575967],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002823284,"about_ca_system_score_gemma":0.0002010845,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002036892,"about_ca_topic_score_gemma":0.002767747,"domain_scores_codex":[0.9992768,0.0001183111,0.00009110499,0.0003309243,0.0001145054,0.00006832246],"domain_scores_gemma":[0.9990803,0.0004787898,0.0002445745,0.00007748217,0.00005879442,0.00005991392],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003688261,0.00007992102,0.9075745,0.0006599417,0.00517665,0.007826094,0.0002245936,0.001652217,0.04661812,0.0006118102,0.003003007,0.02288496],"study_design_scores_gemma":[0.0001701683,0.0001483167,0.9690304,0.0001387739,0.00322881,0.009808588,0.0001629675,0.00254226,0.007646891,0.00129916,0.005783423,0.000040168],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9850839,0.003994011,0.002708926,0.0003596554,0.00005305246,0.00001469017,0.006861411,0.0000719914,0.000852377],"genre_scores_gemma":[0.995177,0.0006678109,0.001162906,0.0002145635,0.00002776726,0.00001455549,0.002366823,0.00002052937,0.0003478964],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003316313,"threshold_uncertainty_score":0.01109415,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00702364785802853,"score_gpt":0.2592773310604375,"score_spread":0.252253683202409,"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."}}