AutismKB 2.0

Annotation Detail for MUT


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Basic Information Top
Gene Symbol:MUT ( MCM )
Gene Full Name: methylmalonyl CoA mutase
Band: 6p12.3
Quick LinksEntrez ID:4594; OMIM: 609058; Uniprot ID:MUTA_HUMAN; ENSEMBL ID: ENSG00000146085; HGNC ID: 7526
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PROPIONMET-PWYmethylmalonyl pathway
PWY-5328superpathway of methionine degradation
PWY-51302-oxobutanoate degradation I
Pathway IDPathway Name
hsa00280Valine, leucine and isoleucine degradation
hsa00640Propanoate metabolism
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of lipids and lipoproteins
No data
Pathway IDPathway Name
P02777Succinate to proprionate conversion
P02755Methylmalonyl pathway
Pathway IDPathway Name
500813Propionyl-CoA catabolism
Related Diseases/Disorders Top
Desease IDDesease Name
H00174Methylmalonic aciduria
Inherited disorders of amino acid metabolism
Genetic disorders
Desease IDDesease Name
1832Congenital abnormality
No data
No data
Desease Name
Methylmalonic aciduria, mut
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of MUT mRNAaffects expression 17562736
C053001 adefovir adefovir affects the expression of MUT mRNA mutant formaffects expression 19427250
C053001 adefovir adefovir affects the expression of MUT protein mutant formaffects expression 19427250
C053001 adefovir adefovir results in increased expression of MUT mRNAincreases expression 19199343
C053001 adefovir adefovir results in increased expression of MUT proteinincreases expression 19199343
D000638 Amiodarone Amiodarone affects the expression of MUT mRNAaffects expression 19483382
C010680 antibiotic G 418 antibiotic G 418 affects the expression of MUT mRNA mutant formaffects expression 19427250
C010680 antibiotic G 418 [antibiotic G 418 co-treated with Gentamicins] affects the activity of MUT protein mutant formaffects activity|affects cotreatment 19427250
C010680 antibiotic G 418 [antibiotic G 418 co-treated with Gentamicins] affects the expression of MUT mRNA mutant formaffects cotreatment|affects expression 19427250
C010680 antibiotic G 418 antibiotic G 418 promotes the reaction [Gentamicins affects the expression of MUT protein mutant form]affects expression|increases reaction 19427250
D001553 Benzbromarone Benzbromarone affects the expression of MUT mRNAaffects expression 19483382
D002994 Clofibrate Clofibrate affects the expression of MUT mRNAaffects expression 19483382
D016572 Cyclosporine Cyclosporine results in decreased expression of MUT mRNAdecreases expression 20106945
D002945 Cisplatin Cisplatin affects the expression of MUT mRNA mutant formaffects expression 19427250
D002945 Cisplatin Cisplatin affects the expression of MUT protein mutant formaffects expression 19427250
D002945 Cisplatin Cisplatin results in increased expression of MUT mRNAincreases expression 19199343
D002945 Cisplatin Cisplatin results in increased expression of MUT proteinincreases expression 19199343
D002117 Calcitriol Calcitriol results in increased expression of MUT mRNAincreases expression 16002434
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of MUT mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of MUT mRNAaffects cotreatment|increases expression 17942748
D005001 Ethionine Ethionine affects the expression of MUT mRNAaffects expression 19483382
D005839 Gentamicins [antibiotic G 418 co-treated with Gentamicins] affects the activity of MUT protein mutant formaffects activity|affects cotreatment 19427250
D005839 Gentamicins [antibiotic G 418 co-treated with Gentamicins] affects the expression of MUT mRNA mutant formaffects cotreatment|affects expression 19427250
D005839 Gentamicins antibiotic G 418 promotes the reaction [Gentamicins affects the expression of MUT protein mutant form]affects expression|increases reaction 19427250
D005839 Gentamicins Gentamicins affects the expression of MUT protein mutant formaffects expression 19427250
D009853 Omeprazole Omeprazole affects the expression of MUT mRNAaffects expression 19483382
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of MUT mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid affects the expression of MUT mRNAaffects expression 19483382
D011441 Propylthiouracil Propylthiouracil affects the expression of MUT mRNAaffects expression 19483382
D012643 Selenium Selenium results in decreased expression of MUT mRNAdecreases expression 19244175
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of MUT mRNAaffects cotreatment|increases expression 17942748
D013853 Thioacetamide Thioacetamide affects the expression of MUT mRNAaffects expression 19483382
D014635 Valproic Acid Valproic Acid results in increased expression of MUT mRNAincreases expression 19101580
D015215 Zidovudine Zidovudine affects the expression of MUT mRNA mutant formaffects expression 19427250
D015215 Zidovudine Zidovudine affects the expression of MUT protein mutant formaffects expression 19427250
D015215 Zidovudine Zidovudine results in increased expression of MUT mRNAincreases expression 19199343
D015215 Zidovudine Zidovudine results in increased expression of MUT proteinincreases expression 19199343
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.0315322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 8.038875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 3.8419490988
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.8617505938
MESH:D000163 Acquired Immunodeficiency Syndrome Zidovudine 4.749612607
MESH:D058186 Acute Kidney Injury Cisplatin 8.8712690470 15814532 17670903
MESH:D058186 Acute Kidney Injury Gentamicins 8.8711274264
MESH:D055371 Acute Lung Injury pirinixic acid 3.0318653653
MESH:D000230 Adenocarcinoma Cisplatin 4.3911798837 17638652
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3914692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 9.6216434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.6216835633
MESH:D000550 Amblyopia Valproic Acid 5.1517688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.8711748828
MESH:D000799 Angioedema Acetaminophen 3.7610982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.5017497229
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.7218218290 18057881 20041841
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.3811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6115885639
MESH:D001281 Atrial Fibrillation Amiodarone 3.8418651412 19698954
MESH:D001321 Autistic Disorder Acetaminophen 1.8518445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8519232924 18940202 18558336 18316065 19460635 17688650 15238991 18177632 17507914 17157402 18396377 16609825 20603192 18775368 18985861
MESH:D001714 Bipolar Disorder Valproic Acid 3.0320046352 17594078
MESH:D001778 Blood Coagulation Disorders Amiodarone 56.9219483382
MESH:D001778 Blood Coagulation Disorders Benzbromarone 56.9219483382
MESH:D001778 Blood Coagulation Disorders Clofibrate 56.9219483382
MESH:D001778 Blood Coagulation Disorders Ethionine 56.9219483382
MESH:D001778 Blood Coagulation Disorders Omeprazole 56.9219483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 56.9219483382
MESH:D001778 Blood Coagulation Disorders Propylthiouracil 56.9219483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 56.9212125929
MESH:D001778 Blood Coagulation Disorders Thioacetamide 56.9219483382
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.7115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 7.8315746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 7.838888407
MESH:D019046 Bone Marrow Neoplasms Cisplatin 4.8014601052
MESH:D001943 Breast Neoplasms Calcitriol 1.9611237771
MESH:D001943 Breast Neoplasms Cisplatin 1.9618382427 19526202
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.7316835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.543084413
MESH:D006528 Carcinoma, Hepatocellular Benzbromarone 6.541701930
MESH:D006528 Carcinoma, Hepatocellular Cisplatin 6.5417982673
MESH:D006528 Carcinoma, Hepatocellular Thioacetamide 6.5417997003
MESH:D002289 Carcinoma, Non-Small-Cell Lung Cisplatin 3.0112023789 16685392
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 4.8911237771
MESH:D002294 Carcinoma, Squamous Cell Cisplatin 4.896189445 18337622 17066447
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3218670907 16120746 18850075
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.8615710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.0018974383
MESH:D002386 Cataract Acetaminophen 2.5310977129
MESH:D002471 Cell Transformation, Neoplastic Clofibrate 6.651399818
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.6512371664
MESH:D002637 Chest Pain Omeprazole 5.0315447763
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.6820734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.2916835633
MESH:D018281 Cholangiocarcinoma Thioacetamide 9.2918291259
MESH:D002779 Cholestasis Cyclosporine 12.9619486331
MESH:D002779 Cholestasis Ethinyl Estradiol 12.9617681005 11677210 16919318 15861022 16105132 17333356 17110522
MESH:D002779 Cholestasis pirinixic acid 12.9619176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.0715668235 8697196 12621046 15340226 16354765
MESH:D003092 Colitis Selenium 3.6917936198
MESH:D015179 Colorectal Neoplasms Cisplatin 2.3315273666
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 2.9814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.4515322242 20055451 10048152
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.4516575769 8888407 17688650
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3818249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6517107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 14.9311743745 19420014 12705907 16485898 16109766 19370779 16227642 11421492 19085960 10663392 14986274 17562736 16781746 16393943 19739265 12392966 10915739 2444490 11461765 19164858 14725611 11529661 18071297 12153990 16081117 19923254 11739529 18713872 11287661 12958197 15968718 10774834 16177239 15619225 11834606 12594235 12540782 14550746 19416960 17522070 17906064
MESH:D056486 Drug-Induced Liver Injury Amiodarone 14.9318218290 15265979
MESH:D056486 Drug-Induced Liver Injury Selenium 14.9315131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 14.9320420201
MESH:D056486 Drug-Induced Liver Injury Thioacetamide 14.9312963478
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 14.9319641884 1733752
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0219426721
MESH:D004362 Drug Toxicity Cisplatin 19.1415033597 12231392 12649298 19839026
MESH:D004362 Drug Toxicity Gentamicins 19.1411033412 15033597
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 19.1411462148
MESH:D004362 Drug Toxicity Zidovudine 19.1415040536
MESH:D004381 Duodenal Ulcer Omeprazole 4.2416613094 17151854 21218061 15991576
MESH:D050171 Dyslipidemias Clofibrate 4.0016707586
MESH:D004421 Dystonia Valproic Acid 3.961851702
MESH:D004487 Edema pirinixic acid 6.2712083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.2711000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.8216714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 8.8015138306
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 8.8012538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.9410568697 9294722
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.073659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 3.8416628512 3922381
MESH:D004827 Epilepsy Valproic Acid 2.8920417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.516426943 7562514 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.217750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 3.983659116
MESH:D004938 Esophageal Neoplasms Cisplatin 2.7616785472 15464296 16481741 17638652 15173087
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.9511564622
MESH:D005218 Fat Necrosis Thioacetamide 5.6416456712
MESH:D005234 Fatty Liver Amiodarone 35.7614986274
MESH:D005234 Fatty Liver Clofibrate 35.7619224547
MESH:D005234 Fatty Liver Cyclosporine 35.7619224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 35.7615345470
MESH:D005234 Fatty Liver pirinixic acid 35.7620131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 35.7614986274 19224547
MESH:D005234 Fatty Liver Zidovudine 35.7618299183
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.3711858732
MESH:D005315 Fetal Diseases Valproic Acid 4.8116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.048888407 18558336
MESH:D005355 Fibrosis Cyclosporine 8.1912639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.1920067830
MESH:D005756 Gastritis Acetaminophen 3.5916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.138708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.5110696789
MESH:D006258 Head and Neck Neoplasms Cisplatin 3.6515102660 15464296
MESH:D034381 Hearing Loss Cisplatin 10.0319898482
MESH:D034381 Hearing Loss Gentamicins 10.0317868369 19130971 18024279 15968427
MESH:D006319 Hearing Loss, Sensorineural Cisplatin 4.3415464296
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.2811294989 10048152
MESH:D006333 Heart Failure pirinixic acid 6.7720558911
MESH:D006333 Heart Failure Selenium 6.7717162251
MESH:D006402 Hematologic Diseases Zidovudine 4.6312579204
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.3415720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2511000095
MESH:D006501 Hepatic Encephalopathy Thioacetamide 4.4915929193 18665440 17276928
MESH:D006505 Hepatitis Thioacetamide 4.1316456712
MESH:D006529 Hepatomegaly Amiodarone 13.9215265979
MESH:D006529 Hepatomegaly pirinixic acid 13.9218467677 16221962 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 13.9216120746 12621046 15340226
MESH:D015658 HIV Infections Zidovudine 3.4411363243 11698656 20032539 11141242 17358032
MESH:D006689 Hodgkin Disease Cisplatin 3.5216170182 16200630
MESH:D006849 Hydrocephalus Valproic Acid 4.7817688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.9615340226 18606429 8697196 16354765 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.6316870215
MESH:D053565 Hypercalciuria Gentamicins 5.6217652376
MESH:D006937 Hypercholesterolemia Amiodarone 3.798137927 9751232
MESH:D006943 Hyperglycemia pirinixic acid 3.1020558911
MESH:D006973 Hypertension Cyclosporine 4.8310903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 4.8318670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.7216945680 16569931
MESH:D007037 Hypothyroidism Amiodarone 11.3217991464 18020914
MESH:D007037 Hypothyroidism Propylthiouracil 11.3218031379 8137927
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.3812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.4317937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8112200463 12878042
MESH:D007251 Influenza, Human Selenium 4.1216624496
MESH:D007333 Insulin Resistance pirinixic acid 2.5716306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.2516580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.3615604871
MESH:D007673 Kidney Cortex Necrosis Cisplatin 13.0515464296
MESH:D007673 Kidney Cortex Necrosis Gentamicins 13.0518842672
MESH:D007674 Kidney Diseases Acetaminophen 14.0815629191 12587719
MESH:D007674 Kidney Diseases Cisplatin 14.0819839026 18289764 12649298 15190930 12231392
MESH:D007674 Kidney Diseases Cyclosporine 14.0818776723 8314463 10903974
MESH:D007674 Kidney Diseases Gentamicins 14.0818289764 19349640 17934191
MESH:D007676 Kidney Failure, Chronic Selenium 3.8016518626
MESH:D007680 Kidney Neoplasms Cyclosporine 7.3212371664
MESH:D007680 Kidney Neoplasms Zidovudine 7.3212579204
MESH:D007683 Kidney Tubular Necrosis, Acute Cisplatin 11.7411231351
MESH:D007683 Kidney Tubular Necrosis, Acute Gentamicins 11.7411231351
MESH:D016773 Leishmaniasis, Cutaneous Gentamicins 8.7010219319
MESH:D016773 Leishmaniasis, Cutaneous Omeprazole 8.7019248655
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell Zidovudine 4.3320370541
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1416294345 17596541
MESH:D008064 Lipidoses Amiodarone 3.4515342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4115474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4112878042
MESH:D008106 Liver Cirrhosis, Experimental Thioacetamide 3.4112679928 11682029 16511523 16343077 18615449 15316131 18263696 15288472 10677585 18295389 15334695 17050028 12891558 15095483 11481614 17629604 15158331 15474484 16098781 15078482 17127702 11172339 18606216 17292413 12531686 18031379 16489207 18458672 12557150 18032466 15288473 18380797 18416461 15716488 15465738 16248980 12085344 16126171 16097051 17355460 18395095 15362042 14739098 15075984 12175628
MESH:D008107 Liver Diseases Acetaminophen 4.0516611625 12969438 12587719 19014921 16610002 19460945 11587558 19784758
MESH:D008107 Liver Diseases Thioacetamide 4.0518374380 16337175 15158337
MESH:D017114 Liver Failure, Acute Acetaminophen 9.3716871587 17185352
MESH:D017114 Liver Failure, Acute Thioacetamide 9.3717276928 15633222 15313186 12479984
MESH:D008113 Liver Neoplasms pirinixic acid 4.1415890375 20007298 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.1416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.0512151625
MESH:D008133 Long QT Syndrome Amiodarone 3.5111989578 15350150 17391786
MESH:D008171 Lung Diseases Amiodarone 3.3112587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 10.9918516814
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 10.9917228818
MESH:D008175 Lung Neoplasms Cisplatin 3.496189445 11798837 17225452
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4911884234 19555203
MESH:D008175 Lung Neoplasms Zidovudine 3.4918800350
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.7115318939
MESH:D008545 Melanoma Cisplatin 2.4612374674 18505091 11135225 16432458 18176117 17761969 12883367 17023156 18332650 15577323 16809738 16248763 12393984
MESH:D018328 Melanoma, Amelanotic Cisplatin 4.6915990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.4819513568
MESH:D008654 Mesothelioma Cisplatin 6.2417638057
MESH:D008654 Mesothelioma Selenium 6.2415107826
MESH:D008661 Metabolism, Inborn Errors marker/mechanism 19427250
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.7116801185
OMIM:251000 METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY marker/mechanism
MESH:D048629 Micronuclei, Chromosome-Defective Zidovudine 5.7617358032
MESH:D008881 Migraine Disorders Valproic Acid 3.1318765137 18803445
MESH:D009135 Muscular Diseases pirinixic acid 3.4216239165
MESH:D009137 Muscular Dystrophy, Animal Gentamicins 6.1918694830
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 3.948888407
MESH:D009181 Mycoses Amiodarone 4.8212754197 17974566
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.1017596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1119151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.9512213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.8816411023
MESH:D009369 Neoplasms Cisplatin 4.9616773208
MESH:D009369 Neoplasms pirinixic acid 4.9617405874
MESH:D009395 Nephritis, Interstitial Cisplatin 4.4115464296
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.3617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2119348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.1314600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.078888407 16359493
MESH:D009447 Neuroblastoma Cisplatin 3.408761367
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8018514411
MESH:D017599 Neuroectodermal Tumors Cisplatin 4.618761367
MESH:D052556 Niemann-Pick Disease, Type C Clofibrate 4.859802331
MESH:D009765 Obesity pirinixic acid 1.7920558911
MESH:D010051 Ovarian Neoplasms Cisplatin 2.8519769630 6897625 17225452 15464296
MESH:D010146 Pain Acetaminophen 2.3216870215
MESH:D010190 Pancreatic Neoplasms Cisplatin 2.9619003803
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6011578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.1712520081
MESH:D010523 Peripheral Nervous System Diseases Cisplatin 4.2215464296
MESH:D010954 Plasmacytoma Selenium 4.8115087411
MESH:D010997 Pleural Neoplasms Cisplatin 5.2617638057
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.4718163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.1412371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.1811222880 11399792 11118676 11896295
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 9.1820603192
MESH:D011470 Prostatic Hyperplasia Calcitriol 4.6915572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.5716644109 16289102 18247401 15754350 12479363
MESH:D011507 Proteinuria Gentamicins 4.6415033597
MESH:D011537 Pruritus Ethinyl Estradiol 3.2316919318 15861022
MESH:D019310 Pseudolymphoma Valproic Acid 4.4611422049 12752131
MESH:D011565 Psoriasis Cyclosporine 2.2016882103
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.8212832656 12490602 11597910
MESH:D051437 Renal Insufficiency Cisplatin 10.3715464296
MESH:D051437 Renal Insufficiency Gentamicins 10.3715728788 17132701
MESH:D015427 Reperfusion Injury pirinixic acid 2.3419058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.7518990726
MESH:D012173 Retinitis Gentamicins 6.1918644591
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.0919155313
MESH:D012512 Sarcoma, Ewing's Cisplatin 4.3414601052
MESH:D012559 Schizophrenia Valproic Acid 2.0615737665 19110320
MESH:D012640 Seizures Valproic Acid 2.6814763951 15475178 1511512 11738929 3137016 17978042 11044598 16876388
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.0018724381
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0016192470
MESH:D055752 Small Cell Lung Carcinoma Cisplatin 5.2615464296
MESH:D013088 Spermatocele Ethinyl Estradiol 3.8616709447
MESH:D016135 Spinal Dysraphism Valproic Acid 3.7119490988
MESH:D013226 Status Epilepticus Valproic Acid 4.4612833885
MESH:D013272 Stomach Diseases Omeprazole 4.5318545984
MESH:D013274 Stomach Neoplasms Cisplatin 2.8618396642 15958060 17522103
MESH:D013274 Stomach Neoplasms Zidovudine 2.8617696246
MESH:D013276 Stomach Ulcer Amiodarone 7.3018087811
MESH:D013276 Stomach Ulcer Omeprazole 7.3017977527 18237397 11906479 16755016 15991576 10750652
MESH:D013610 Tachycardia Amiodarone 4.2011238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.1019225199
MESH:D013736 Testicular Neoplasms Cisplatin 4.5517225452 15464296
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.5411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.0715669648
MESH:D013959 Thyroid Diseases Amiodarone 11.7819731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 11.7812697716
MESH:D013964 Thyroid Neoplasms Propylthiouracil 3.6115710170
MESH:D013971 Thyrotoxicosis Amiodarone 4.7718020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.1111989578 17467628
MESH:D014178 Translocation, Genetic Valproic Acid 5.1517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.443119515
MESH:D001749 Urinary Bladder Neoplasms Cisplatin 2.9112973940 17225452 15464296
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.568888407
MESH:D014581 Urticaria Acetaminophen 2.8910982225
MESH:D002583 Uterine Cervical Neoplasms Cisplatin 4.1316803524
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.2114692618
MESH:D014605 Uveitis Cyclosporine 3.901336536
MESH:D014625 Vaginal Neoplasms Cisplatin 10.9115577323
MESH:D014625 Vaginal Neoplasms Zidovudine 10.9112579204
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.5112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.4615869587 14671159
MESH:D015837 Vestibular Diseases Gentamicins 5.4318776599
MESH:D014839 Vomiting Cisplatin 4.6411897121
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.1715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.3617120751
Pathway ID Pathway Name
KEGG:00630 Glyoxylate and dicarboxylate metabolism
KEGG:01100 Metabolic pathways
REACT:22258 Metabolism of lipids and lipoproteins
KEGG:00640 Propanoate metabolism
KEGG:00280 Valine, leucine and isoleucine degradation
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA31327
    • No data
    Releated disease ID Related disease Name
    PA162370428Methylmalonic acidemia
    Releated drug ID Related drug Name
    PA448625biotin
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00115 - Liver-Stomach Concentrate with Intrinsic Factor Antianemic Agents;Essential Vitamin;Vitamins (Vitamin B Complex)
    DB00200 cofactor Vege 1 Daily Caplet Nutritional Supplement;Anti-anemic Agents;Vitamin B Complex;Hematinics
    No data
    No data
    No data

    Simple Query:


      (e.g. CHD8)

    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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