AutismKB 2.0

Annotation Detail for UFD1L


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Basic Information Top
Gene Symbol:UFD1L ( UFD1 )
Gene Full Name: ubiquitin fusion degradation 1 like (yeast)
Band: 22q11.21
Quick LinksEntrez ID:7353; OMIM: 601754; Uniprot ID:UFD1_HUMAN; ENSEMBL ID: ENSG00000070010; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04141Protein processing in endoplasmic reticulum
No data
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of UFD1L mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone affects the expression of UFD1L mRNAaffects expression 19483382
D000643 Ammonium Chloride Ammonium Chloride affects the expression of UFD1L mRNAaffects expression 16483693
D001553 Benzbromarone Benzbromarone affects the expression of UFD1L mRNAaffects expression 19483382
D002994 Clofibrate Clofibrate affects the expression of UFD1L mRNAaffects expression 19483382
D016572 Cyclosporine Cyclosporine results in increased expression of UFD1L mRNAincreases expression 20106945
D005001 Ethionine Ethionine affects the expression of UFD1L mRNAaffects expression 19483382
C011890 kojic acid kojic acid results in increased expression of UFD1L mRNAincreases expression 16595896
C030667 methylazoxymethanol methylazoxymethanol results in increased expression of UFD1L mRNAincreases expression 17107856
D015741 Metribolone Metribolone results in decreased expression of UFD1L proteindecreases expression 17152098
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in increased expression of UFD1L mRNAincreases expression 17616710
D009853 Omeprazole Omeprazole affects the expression of UFD1L mRNAaffects expression 19483382
C006253 pirinixic acid pirinixic acid affects the expression of UFD1L mRNAaffects expression 19483382
D011441 Propylthiouracil Propylthiouracil affects the expression of UFD1L mRNAaffects expression 19483382
C031280 pyrazole pyrazole results in increased expression of UFD1L mRNAincreases expression 17945193
D012643 Selenium Selenium results in increased expression of UFD1L mRNAincreases expression 19244175
D018038 Sodium Selenite Sodium Selenite results in increased expression of UFD1L mRNAincreases expression 18175754
D013853 Thioacetamide Thioacetamide affects the expression of UFD1L mRNAaffects expression 19483382
D014303 Trinitrotoluene Trinitrotoluene affects the expression of UFD1L mRNAaffects expression 21346803
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Trinitrotoluene 4.137525203
MESH:D000138 Acidosis Ammonium Chloride 3.5018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.0518653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.4216434500
MESH:D000799 Angioedema Acetaminophen 3.7910982225
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.7418057881 18218290 20041841
MESH:D001281 Atrial Fibrillation Amiodarone 3.8518651412 19698954
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001778 Blood Coagulation Disorders Amiodarone 49.6819483382
MESH:D001778 Blood Coagulation Disorders Benzbromarone 49.6819483382
MESH:D001778 Blood Coagulation Disorders Clofibrate 49.6819483382
MESH:D001778 Blood Coagulation Disorders Ethionine 49.6819483382
MESH:D001778 Blood Coagulation Disorders Omeprazole 49.6819483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 49.6819483382
MESH:D001778 Blood Coagulation Disorders Propylthiouracil 49.6819483382
MESH:D001778 Blood Coagulation Disorders Thioacetamide 49.6819483382
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.673084413
MESH:D006528 Carcinoma, Hepatocellular Benzbromarone 4.671701930
MESH:D006528 Carcinoma, Hepatocellular Thioacetamide 4.6717997003
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.8719225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.0218974383
MESH:D002386 Cataract Acetaminophen 7.3810977129
MESH:D002386 Cataract Trinitrotoluene 7.3814694615 15817613
MESH:D002471 Cell Transformation, Neoplastic Clofibrate 6.701399818
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.7012371664
MESH:D002637 Chest Pain Omeprazole 5.0515447763
MESH:D018281 Cholangiocarcinoma Thioacetamide 4.2318291259
MESH:D002779 Cholestasis Cyclosporine 7.5919486331
MESH:D002779 Cholestasis pirinixic acid 7.5919176532
MESH:D019457 Chromosome Breakage Sodium Selenite 4.6915894690
MESH:D003092 Colitis Selenium 3.7217936198
MESH:D000013 Congenital Abnormalities Trinitrotoluene 4.3415095906
MESH:D019465 Craniofacial Abnormalities marker/mechanism 10024240
MESH:D003490 Cyanosis Trinitrotoluene 4.8618551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3918249437
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.7216285004
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 18.4114550746 10663392 11743745 15619225 11461765 16109766 14725611 12958197 19416960 10774834 10915739 12392966 11529661 2444490 12705907 11421492 12540782 16081117 11739529 16227642 18071297 17562736 16781746 16485898 11287661 18713872 17906064 19370779 19739265 14986274 19420014 12153990 16393943 19923254 11834606 15968718 19085960 19164858 17522070 16177239 12594235
MESH:D056486 Drug-Induced Liver Injury Amiodarone 18.4118218290 15265979
MESH:D056486 Drug-Induced Liver Injury pyrazole 18.4112499123
MESH:D056486 Drug-Induced Liver Injury Selenium 18.4115131321
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 18.4115131321
MESH:D056486 Drug-Induced Liver Injury Thioacetamide 18.4112963478
MESH:D056486 Drug-Induced Liver Injury Trinitrotoluene 18.4118551238 21346803
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0419426721
MESH:D004381 Duodenal Ulcer Omeprazole 4.2615991576 17151854 21218061 16613094
MESH:D050171 Dyslipidemias Clofibrate 4.0216707586
MESH:D004487 Edema pirinixic acid 2.4212083418
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.7616805852 15547721 15150132 15623463 15547733 16704527 15878914 16510608 15264214
MESH:D005218 Fat Necrosis Thioacetamide 5.6616456712
MESH:D005234 Fatty Liver Amiodarone 18.3014986274
MESH:D005234 Fatty Liver Clofibrate 18.3019224547
MESH:D005234 Fatty Liver Cyclosporine 18.3019224547
MESH:D005234 Fatty Liver pirinixic acid 18.3020131406 19236843
MESH:D005355 Fibrosis Cyclosporine 3.0812168785 12639820
MESH:D005756 Gastritis Acetaminophen 3.6216983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.168708960
MESH:D006330 Heart Defects, Congenital marker/mechanism 10024240
MESH:D006333 Heart Failure pirinixic acid 6.8120558911
MESH:D006333 Heart Failure Selenium 6.8117162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.3615720958
MESH:D006501 Hepatic Encephalopathy Thioacetamide 4.5115929193 18665440 17276928
MESH:D006505 Hepatitis Thioacetamide 4.1516456712
MESH:D006529 Hepatomegaly Amiodarone 14.2315265979
MESH:D006529 Hepatomegaly pirinixic acid 14.2319176532 16221962 18467677 19772884
MESH:D006529 Hepatomegaly Trinitrotoluene 14.2315817613
MESH:D006930 Hyperalgesia Acetaminophen 2.6516870215
MESH:D006937 Hypercholesterolemia Amiodarone 3.818137927 9751232
MESH:D006943 Hyperglycemia pirinixic acid 3.1220558911
MESH:D006973 Hypertension Cyclosporine 2.0710903974
MESH:D007037 Hypothyroidism Amiodarone 11.4018020914 17991464
MESH:D007037 Hypothyroidism Propylthiouracil 11.408137927 18031379
MESH:D007248 Infertility, Male Trinitrotoluene 3.6312150543
MESH:D007251 Influenza, Human Selenium 4.1416624496
MESH:D007333 Insulin Resistance pirinixic acid 7.1616306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.1614714311
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.3915604871
MESH:D007674 Kidney Diseases Acetaminophen 5.6715629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 5.6718776723 8314463 10903974
MESH:D007676 Kidney Failure, Chronic Selenium 3.8216518626
MESH:D007680 Kidney Neoplasms Cyclosporine 2.6812371664
MESH:D016773 Leishmaniasis, Cutaneous Omeprazole 4.0419248655
MESH:D008064 Lipidoses Amiodarone 3.4615342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.5315474484
MESH:D008106 Liver Cirrhosis, Experimental Thioacetamide 2.5316343077 12679928 10677585 18416461 18606216 18263696 15288472 18380797 15465738 16098781 12085344 16126171 15362042 17292413 17355460 18295389 18615449 16097051 12891558 17127702 12557150 17629604 16511523 15288473 15158331 18032466 12175628 17050028 16248980 15716488 14739098 18458672 11481614 15095483 16489207 15075984 15078482 18395095 11172339 18031379 15316131 12531686 15334695 15474484 11682029
MESH:D008107 Liver Diseases Acetaminophen 4.0719784758 11587558 19014921 16611625 19460945 12969438 16610002 12587719
MESH:D008107 Liver Diseases Thioacetamide 4.0718374380 16337175 15158337
MESH:D017114 Liver Failure, Acute Acetaminophen 9.4416871587 17185352
MESH:D017114 Liver Failure, Acute Thioacetamide 9.4415633222 17276928 12479984 15313186
MESH:D008113 Liver Neoplasms pirinixic acid 1.8015890375 16377806 20007298
MESH:D008114 Liver Neoplasms, Experimental kojic acid 3.2918544905
MESH:D008133 Long QT Syndrome Amiodarone 3.5315350150 11989578 17391786
MESH:D008171 Lung Diseases Amiodarone 3.3312587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.4218516814
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.0014737004
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.7215318939
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5019513568
MESH:D008654 Mesothelioma Selenium 2.7715107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.7316801185
MESH:D009135 Muscular Diseases pirinixic acid 3.4416239165
MESH:D009181 Mycoses Amiodarone 4.8512754197 17974566
MESH:D009203 Myocardial Infarction pirinixic acid 2.1119151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.8916411023
MESH:D009336 Necrosis Trinitrotoluene 4.7018551238
MESH:D009369 Neoplasms pirinixic acid 1.9217405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.3917954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2319348381 18481113
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8118514411
MESH:D052556 Niemann-Pick Disease, Type C Clofibrate 4.879802331
MESH:D009765 Obesity pirinixic acid 1.8020558911
MESH:D009784 Occupational Diseases Trinitrotoluene 4.2817852074 12819281 14694615
MESH:D010146 Pain Acetaminophen 2.3416870215
MESH:D010954 Plasmacytoma Selenium 4.8315087411
MESH:D011230 Precancerous Conditions Cyclosporine 3.1612371664
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.4218760546
MESH:D011565 Psoriasis Cyclosporine 2.2116882103
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.8312490602 11597910 12832656
MESH:D015427 Reperfusion Injury pirinixic acid 2.3519058328
MESH:D012640 Seizures Trinitrotoluene 3.3918551238
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.0218724381
MESH:D013163 Splenomegaly Trinitrotoluene 5.1415817613
MESH:D013272 Stomach Diseases Omeprazole 4.5518545984
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.3212958204 17575124
MESH:D013276 Stomach Ulcer Amiodarone 7.3718087811
MESH:D013276 Stomach Ulcer Omeprazole 7.3711906479 10750652 15991576 18237397 17977527 16755016
MESH:D013610 Tachycardia Amiodarone 4.2211238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.1319225199
MESH:D013733 Testicular Diseases pyrazole 4.766499806
MESH:D013959 Thyroid Diseases Amiodarone 4.7019731979
MESH:D013964 Thyroid Neoplasms Propylthiouracil 3.6315710170
MESH:D013971 Thyrotoxicosis Amiodarone 4.8018020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.1311989578 17467628
MESH:D014581 Urticaria Acetaminophen 2.9110982225
MESH:D014605 Uveitis Cyclosporine 3.931336536
MESH:D014985 Xerophthalmia Cyclosporine 4.3917120751
Pathway ID Pathway Name
KEGG:04141 Protein processing in endoplasmic reticulum
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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