{"id":"W2076265228","doi":"10.1186/s13023-015-0248-3","title":"Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms","year":2015,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Cannabis and Cannabinoid Research","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia Hospital; Spinal Cord Injury BC; Pancreas Centre (Canada); British Columbia Centre of Excellence for Women's Health; World Wildlife Fund Canada; University of Alberta; Child and Family Research Institute; BC Children's Hospital; University of British Columbia","funders":"National Institute on Drug Abuse; Genome British Columbia; Michael Smith Health Research BC; Children's Hospital Foundation; National Institute of General Medical Sciences; Radboud Universiteit; Canadian Institutes of Health Research; Genome Canada","keywords":"Missense mutation; Fatty acid amide hydrolase; Exome sequencing; Sanger sequencing; Ataxia; Compound heterozygosity; Autism; Biology; Mutation; Medicine; Genetics; Psychiatry; Gene; Cannabinoid receptor","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":[0.0001648922,0.001294276,0.0005388645,0.001834233,0.001447042,0.0004245398,0.0005655543,0.001675213,0.00241399],"category_scores_gemma":[0.0005932454,0.0003268518,0.0005343395,0.0005629146,0.0007645906,0.0003472847,0.0006260116,0.001030686,0.0005375177],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007455187,"about_ca_system_score_gemma":0.0006389709,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005054799,"about_ca_topic_score_gemma":0.00590843,"domain_scores_codex":[0.9997724,0.00001743621,0.00002099525,0.00008512309,0.00005148232,0.00005256911],"domain_scores_gemma":[0.9996957,0.00006219433,0.00007200296,0.00001208582,0.00002496433,0.0001332343],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001156835,0.000127208,0.01670453,0.00003462769,0.00002819529,0.9694402,0.0003533538,0.0001029248,0.008431096,0.0002540862,0.0006068826,0.00380118],"study_design_scores_gemma":[0.00001872361,0.0002425102,0.05109366,0.00002028262,0.0000356846,0.9448526,0.000139109,0.0002835605,0.002063231,0.0001632517,0.001064032,0.00002347249],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9883922,0.001633283,0.001619312,0.002582594,0.0002279327,0.00008885612,0.0007417211,0.0001841227,0.00453013],"genre_scores_gemma":[0.9950129,0.0006292753,0.000984503,0.0006758547,0.000113625,0.00001399808,0.0001692366,0.00002901382,0.00237148],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005054799,"threshold_uncertainty_score":0.01005077,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01154222864754733,"score_gpt":0.2636888163116619,"score_spread":0.2521465876641146,"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."}}