AutismKB 2.0

Annotation Detail for MITF


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Basic Information Top
Gene Symbol:MITF ( MI,WS2A,bHLHe32 )
Gene Full Name: microphthalmia-associated transcription factor
Band: 3p13
Quick LinksEntrez ID:4286; OMIM: 156845; Uniprot ID:MITF_HUMAN; ENSEMBL ID: ENSG00000187098; HGNC ID: 7105
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04916Melanogenesis
hsa05218Melanoma
hsa05200Pathways in cancer
No data
Pathway IDPathway Name
200156Signaling events mediated by Stem cell factor receptor (c-Kit)
200154Signaling mediated by p38-alpha and p38-beta
200124IL6-mediated signaling events
200106Regulation of Wnt-mediated beta catenin signaling and target gene transcription
200191Regulation of retinoblastoma protein
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Cancers
H00169Ocular albinism
Inherited disorders of amino acid metabolism
Skin cancers
H00038Malignant melanoma
Genetic disorders
Desease IDDesease Name
1766Renal Cell cancer
1770Melanoma
1781Rheumatoid arthritis
1848Embryoma
1870Drug abuse
1965Clear cell carcinoma
No data
No data
Desease Name
Waardenburg syndrome, type IIA
Waardenburg syndrome/ocular albinism, digenic
Tietz albinism-deafness syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of MITF mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone results in increased expression of MITF mRNAincreases expression 19774075
D000643 Ammonium Chloride Ammonium Chloride affects the expression of MITF mRNAaffects expression 16483693
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in increased expression of MITF mRNAincreases expression 18687144
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of MITF mRNAdecreases expression 20064835
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of MITF mRNAdecreases expression 19150397
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of MITF mRNAdecreases expression 15336504
D016572 Cyclosporine Cyclosporine results in decreased expression of MITF mRNAdecreases expression 20106945
C014347 decitabine decitabine results in decreased expression of MITF mRNAdecreases expression 17785578
D002117 Calcitriol Calcitriol results in decreased expression of MITF mRNAdecreases expression 16002434
D004958 Estradiol [Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of MITF mRNAaffects cotreatment|decreases expression 19619570
D004958 Estradiol Estradiol results in increased expression of MITF mRNAincreases expression 19619570
D005576 Forskolin Forskolin results in increased expression of MITF mRNAincreases expression 17460731
D005576 Forskolin Forskolin results in increased expression of MITF proteinincreases expression 17460731
C533894 LG 100815 LG 100815 results in increased expression of MITF mRNAincreases expression 16951191
C008493 methylselenic acid methylselenic acid results in increased expression of MITF mRNAincreases expression 18548127
C029938 nickel sulfate nickel sulfate results in increased expression of MITF mRNAincreases expression 16780908
C062198 octa-2,4,6-trienoic acid octa-2,4,6-trienoic acid results in increased expression of MITF mRNAincreases expression 16951191
C121565 pifithrin pifithrin results in decreased expression of MITF mRNAdecreases expression 19098008
C121565 pifithrin pifithrin results in decreased expression of MITF proteindecreases expression 19098008
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of MITF mRNAaffects binding|decreases expression|increases activity 19710929
D011794 Quercetin Quercetin results in increased expression of MITF mRNAincreases expression 15309432
D013749 Tetrachlorodibenzodioxin [Estradiol co-treated with Tetrachlorodibenzodioxin] results in decreased expression of MITF mRNAaffects cotreatment|decreases expression 19619570
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of MITF mRNAdecreases expression 19619570
D014212 Tretinoin Tretinoin results in increased expression of MITF mRNAincreases expression 17038669
D014635 Valproic Acid Valproic Acid results in increased expression of MITF mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 7.8815322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 7.888875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 3.8119490988
MESH:D000138 Acidosis Ammonium Chloride 3.4318287403
MESH:D058186 Acute Kidney Injury pifithrin 4.7617670903
MESH:D055371 Acute Lung Injury nickel sulfate 8.7312718980 11954676 19131640 16100012
MESH:D055371 Acute Lung Injury pirinixic acid 8.7318653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.1720127859 20464547
MESH:D000230 Adenocarcinoma Estradiol 4.1711473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.586695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 9.4616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.4616835633
OMIM:103470 ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS marker/mechanism
MESH:D000505 Alopecia Tretinoin 3.5115955085
MESH:D000550 Amblyopia Valproic Acid 5.1017688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.8311748828
MESH:D000743 Anemia, Hemolytic Quercetin 4.1217084956
MESH:D000799 Angioedema Acetaminophen 3.7110982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.4717497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 3.9419183758
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.6918057881 20041841 18218290
MESH:D001169 Arthritis, Experimental Tretinoin 3.0016412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.2316292516
MESH:D001249 Asthma Tretinoin 2.3116456186
MESH:D001260 Ataxia Telangiectasia Quercetin 4.8515336622
MESH:D001281 Atrial Fibrillation Amiodarone 3.8018651412 19698954
MESH:D001321 Autistic Disorder Acetaminophen 1.8518445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8516609825 18940202 18775368 17157402 18985861 17688650 15238991 18396377 18558336 19232924 18316065 19460635 20603192 17507914 18177632
MESH:D001327 Autoimmune Diseases Quercetin 4.2819761891
MESH:D001471 Barrett Esophagus Tretinoin 4.2716935849
MESH:D001714 Bipolar Disorder Valproic Acid 3.0117594078 20046352
MESH:D001778 Blood Coagulation Disorders Amiodarone 20.9719483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 20.9719483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 20.9712125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 20.9716206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 7.7415746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 7.748888407
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 3.6920146248 17474063
MESH:D001943 Breast Neoplasms Calcitriol 3.6911237771
MESH:D001943 Breast Neoplasms decitabine 3.6919208741 18320071
MESH:D001943 Breast Neoplasms Estradiol 3.6912948864 17261762 17289903 16675129 17018787 18497071 19861407 14630087
MESH:D001943 Breast Neoplasms Quercetin 3.6918628248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 3.6920435547
MESH:D001943 Breast Neoplasms Tretinoin 3.6916166294 16443354 16873071
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.4616813970
MESH:D002105 Cadmium Poisoning Quercetin 5.4216962696
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.3316111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.6916835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.0316168501
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.403084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.4016924424
MESH:D006528 Carcinoma, Hepatocellular Quercetin 6.4019519916 12508355
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 6.401917145
MESH:D021441 Carcinoma, Pancreatic Ductal Quercetin 4.8217234771
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 10.5020419170
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 10.5011237771
MESH:D002294 Carcinoma, Squamous Cell decitabine 10.5019215824
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 10.5016051514 16096774
MESH:D006332 Cardiomegaly Quercetin 6.5619794523
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 6.5618670907 18850075 16120746
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.8515710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 4.9518974383
MESH:D002386 Cataract Acetaminophen 6.9710977129
MESH:D002386 Cataract Tretinoin 6.9717460283
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 10.6120889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 10.6112371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 10.6118566989
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.4616129372
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.6620734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D002779 Cholestasis Cyclosporine 7.4319486331
MESH:D002779 Cholestasis pirinixic acid 7.4319176532
MESH:D002822 Choriocarcinoma Tretinoin 5.0316461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 5.5815668235 8697196 12621046 15340226 16354765
MESH:D002972 Cleft Palate Tretinoin 5.589407595
MESH:D003092 Colitis Tretinoin 3.5717035595
MESH:D003110 Colonic Neoplasms decitabine 3.8617616700
MESH:D003110 Colonic Neoplasms Quercetin 3.8615741050 17191121 11134977 19440933 16640504 19056647 17148506
MESH:D015179 Colorectal Neoplasms decitabine 2.6718981723
MESH:D015179 Colorectal Neoplasms Quercetin 2.6718095365 18852136
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 2.9517141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.6820055451 10048152 15322242
MESH:D019465 Craniofacial Abnormalities Tretinoin 3.688800419 9224671 9664655 16925845 14991402 9211117 9142499 17551590 10589399 9125849
MESH:D019465 Craniofacial Abnormalities Valproic Acid 3.6816575769 17688650 8888407
MESH:D017449 Dermatitis, Allergic Contact nickel sulfate 3.5516823706 16780908 11298694
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3718249437
MESH:D003921 Diabetes Mellitus, Experimental Quercetin 3.6219496084
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6417107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.3019279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 8.6519085960 10915739 15619225 17906064 15968718 19416960 16485898 14725611 12594235 19739265 11529661 16227642 12392966 12705907 19164858 10663392 14550746 12153990 18713872 12958197 11739529 18071297 11743745 17522070 16393943 16109766 19420014 11287661 10774834 16081117 12540782 11461765 17562736 14986274 2444490 11421492 19923254 16781746 19370779 11834606 16177239
MESH:D056486 Drug-Induced Liver Injury Amiodarone 8.6518218290 15265979
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 8.6520420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 8.651733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 3.9719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.6611462148
MESH:D004421 Dystonia Valproic Acid 3.921851702
MESH:D004487 Edema pirinixic acid 6.1412083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.1412711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 11.5118230668 15322242 16714409
MESH:D004489 Edema, Cardiac Tretinoin 11.5118230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 3.8115138306
MESH:D004701 Endocrine Gland Neoplasms decitabine 4.9919294695
MESH:D016889 Endometrial Neoplasms Estradiol 7.1311473722 18566989 19148513
MESH:D016889 Endometrial Neoplasms Tretinoin 7.1316569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.919294722 10568697
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.023659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 3.7916628512 3922381
MESH:D004827 Epilepsy Valproic Acid 2.8718234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.486426943 7562514 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.177750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 3.933659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.2420426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.2416530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 8.5111564622
MESH:D005124 Eye Abnormalities Tretinoin 8.519664655 16938888
MESH:D005234 Fatty Liver Amiodarone 17.7814986274
MESH:D005234 Fatty Liver Cyclosporine 17.7819224547
MESH:D005234 Fatty Liver pirinixic acid 17.7820131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 17.7814986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.3311858732
MESH:D005315 Fetal Diseases Valproic Acid 4.7616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.008888407 18558336
MESH:D005355 Fibrosis Cyclosporine 20.0812168785 12639820
MESH:D005355 Fibrosis Quercetin 20.0819474275
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 20.0820067830
MESH:D005355 Fibrosis Tretinoin 20.0817994277
MESH:D005756 Gastritis Acetaminophen 3.5516983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.098708960
MESH:D005909 Glioblastoma Quercetin 6.9719804834
MESH:D005909 Glioblastoma Tretinoin 6.9717312396
MESH:D005910 Glioma Quercetin 3.0017643826
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.4710696789
MESH:D006258 Head and Neck Neoplasms decitabine 7.5419215824
MESH:D006258 Head and Neck Neoplasms Tretinoin 7.5416096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.0316084493
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 10.6920471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 10.6911294989 10048152
MESH:D006330 Heart Defects, Congenital Tretinoin 10.699664655 14991402
MESH:D006331 Heart Diseases pifithrin 4.5014766674
MESH:D006333 Heart Failure pirinixic acid 2.4620558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.2915720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2111000095
MESH:D006529 Hepatomegaly Amiodarone 13.6615265979
MESH:D006529 Hepatomegaly pirinixic acid 13.6618467677 19176532 19772884 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 13.6616120746 12621046 15340226
MESH:D006558 Herpes Genitalis Estradiol 4.9015709030
MESH:D019584 Hot Flashes Estradiol 3.6217088409
MESH:D006849 Hydrocephalus Valproic Acid 4.7417688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.9215340226 16959395 16354765 18606429 8697196
MESH:D006930 Hyperalgesia Acetaminophen 7.2816870215
MESH:D006930 Hyperalgesia Tretinoin 7.2816870215
MESH:D006937 Hypercholesterolemia Amiodarone 3.758137927 9751232
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.4416778211
MESH:D006943 Hyperglycemia pirinixic acid 8.8520558911
MESH:D006943 Hyperglycemia Quercetin 8.8511834736 18262572
MESH:D006973 Hypertension Cyclosporine 8.2910903974
MESH:D006973 Hypertension Quercetin 8.2918356687
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 8.2918850075 18670907
MESH:D007037 Hypothyroidism Amiodarone 4.3817991464 18020914
MESH:D020244 Infarction, Middle Cerebral Artery pifithrin 5.5419475672
MESH:D007248 Infertility, Male decitabine 3.1217581917
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.7912200463 12878042
MESH:D007251 Influenza, Human Quercetin 4.3816624496
MESH:D007333 Insulin Resistance Estradiol 6.9116393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 6.9116306350
MESH:D007410 Intestinal Diseases Tretinoin 3.6417994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 9.5316580747
MESH:D007569 Jaw Abnormalities Tretinoin 9.5315992940 17551590
MESH:D007627 Keloid Quercetin 4.8217086741
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.3115604871
MESH:D007674 Kidney Diseases Acetaminophen 13.8115629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 13.8118776723 10903974 8314463
MESH:D007674 Kidney Diseases Estradiol 13.8115618244
MESH:D007674 Kidney Diseases Quercetin 13.8116962696
MESH:D007680 Kidney Neoplasms Cyclosporine 6.9212371664
MESH:D007680 Kidney Neoplasms Estradiol 6.9215610895
MESH:D007938 Leukemia decitabine 10.1719235587 18980019
MESH:D007938 Leukemia Quercetin 10.1717468513
MESH:D007938 Leukemia Tretinoin 10.1717143497
MESH:D007951 Leukemia, Myeloid decitabine 9.1618454857 19117987 17236224
MESH:D007951 Leukemia, Myeloid Tretinoin 9.1619285840 16932348 16482212
MESH:D015470 Leukemia, Myeloid, Acute decitabine 6.0118206229 18704418 19010910 17679729 19387464 18460780
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 6.0116294345 19850784 17596541
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 6.0116294345 17596541
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.3318055864
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.0717361223 19225113 16891316 16331271 17649720 15748426 17339181 16935935 16788101 12679006 17712046 19029980 16823087 17301526 9834237 17506722 17107899 19642359 17294898 17368321 19075265 17217047 16140955 19035177 16766008
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.219224671
MESH:D008064 Lipidoses Amiodarone 3.4215342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 6.5514716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 6.5515474484
MESH:D008106 Liver Cirrhosis, Experimental Quercetin 6.5512741479
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 6.5512878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 6.5518397230 16248980
MESH:D008107 Liver Diseases Acetaminophen 1.6019460945 16610002 19784758 16611625 19014921 12587719 12969438 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.1217185352 16871587
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 10.2721137059 20195826
MESH:D008113 Liver Neoplasms pirinixic acid 10.2720007298 16377806 15890375
MESH:D008113 Liver Neoplasms Quercetin 10.2718980244
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.2716984957
MESH:D008114 Liver Neoplasms, Experimental Quercetin 5.6519519916
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.6512151625
MESH:D008133 Long QT Syndrome Amiodarone 3.4817391786 15350150 11989578
MESH:D008171 Lung Diseases Amiodarone 3.2912587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 10.8318516814
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 10.8317228818
MESH:D055370 Lung Injury Asbestos, Crocidolite 3.8917365036
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.3218569708 6695378 20869020 18520028 20064080 20135361 18816296 20464547 17053015
MESH:D008175 Lung Neoplasms Quercetin 3.3216280456
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.3211884234 19555203
MESH:D008223 Lymphoma decitabine 3.3319470736
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.4811807958 11408345 16891317 17203775
MESH:D020149 Manganese Poisoning Estradiol 4.3519453300
MESH:D008527 Medulloblastoma Tretinoin 2.7317453147
MESH:D008545 Melanoma decitabine 3.3516505122 17785578
MESH:D008545 Melanoma Tretinoin 3.3516752155
MESH:D008546 Melanoma, Experimental Acetaminophen 3.4419513568
MESH:D008591 Meningomyelocele Tretinoin 4.2916940565
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.1316166281 16966607 18303189
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.6616801185
MESH:D008881 Migraine Disorders Valproic Acid 3.1018765137 18803445
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.0916381670
MESH:D009101 Multiple Myeloma decitabine 3.2518172295
MESH:D009135 Muscular Diseases pirinixic acid 3.3816239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 3.918888407
MESH:D009181 Mycoses Amiodarone 4.7712754197 17974566
MESH:D009190 Myelodysplastic Syndromes decitabine 11.9118608210 19157545 16882708 19010910
MESH:D009190 Myelodysplastic Syndromes Tretinoin 11.9117596541
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 11.9117596541
MESH:D009203 Myocardial Infarction pirinixic acid 5.5519151258
MESH:D009203 Myocardial Infarction Quercetin 5.5519595682
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.9112213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 13.6016810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 13.6016411023
MESH:D015428 Myocardial Reperfusion Injury Quercetin 13.6019207477
MESH:D009369 Neoplasms Benzo(a)pyrene 15.0511141357
MESH:D009369 Neoplasms decitabine 15.0517925555 19470736 19116145
MESH:D009369 Neoplasms pirinixic acid 15.0517405874
MESH:D009369 Neoplasms Quercetin 15.0515185748
MESH:D009369 Neoplasms Tretinoin 15.0516946489 16594593
MESH:D009389 Neovascularization, Pathologic Estradiol 3.6017289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.1718481113 19348381
MESH:D009421 Nervous System Malformations Estradiol 15.5916427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 15.5914600291
MESH:D009421 Nervous System Malformations Tretinoin 15.599125849
MESH:D009436 Neural Tube Defects Tretinoin 7.029142499
MESH:D009436 Neural Tube Defects Valproic Acid 7.0216359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.7618514411
MESH:D020078 Neurogenic Inflammation Quercetin 4.2417929310
MESH:D009765 Obesity pirinixic acid 1.7820558911
MESH:D015663 Osteoporosis, Postmenopausal Quercetin 4.0919495926
MESH:D010051 Ovarian Neoplasms decitabine 10.9819331143 19259094
MESH:D010051 Ovarian Neoplasms Estradiol 10.9819401270
MESH:D010051 Ovarian Neoplasms Quercetin 10.9819005980
MESH:D010051 Ovarian Neoplasms Tretinoin 10.9816936753
MESH:D010146 Pain Acetaminophen 6.2316870215
MESH:D010146 Pain Tretinoin 6.2316870215
MESH:D010190 Pancreatic Neoplasms decitabine 8.4319294695
MESH:D010190 Pancreatic Neoplasms Quercetin 8.4316965848
MESH:D010190 Pancreatic Neoplasms Tretinoin 8.4315976015
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.1212520081
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 4.7610923243
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.4318163543
MESH:D011230 Precancerous Conditions Cyclosporine 8.7312371664
MESH:D011230 Precancerous Conditions Quercetin 8.7319056647
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.0311896295 11222880 11399792 11118676
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 9.0320603192
MESH:D055728 Primary Myelofibrosis decitabine 4.6017616702
MESH:D011470 Prostatic Hyperplasia Calcitriol 4.6515572423
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.7620887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 1.8817292933
MESH:D011471 Prostatic Neoplasms Calcitriol 1.8816289102 18247401 15754350 12479363 16644109
MESH:D011471 Prostatic Neoplasms Estradiol 1.8816740699
MESH:D011471 Prostatic Neoplasms methylselenic acid 1.8816205645
MESH:D011471 Prostatic Neoplasms Quercetin 1.8814715546 17292933
MESH:D011507 Proteinuria Tretinoin 3.4816636307
MESH:D019310 Pseudolymphoma Valproic Acid 4.4112752131 11422049
MESH:D011565 Psoriasis Cyclosporine 2.1816882103
MESH:D011625 Pterygium Tretinoin 4.6616723453
MESH:D011658 Pulmonary Fibrosis Amiodarone 5.7212490602 12832656 11597910
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 5.7217365031 17975199 17322281 15814490
MESH:D015427 Reperfusion Injury pirinixic acid 2.3219058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.7118990726
MESH:D012208 Rhabdomyosarcoma decitabine 17.8019155313
MESH:D012208 Rhabdomyosarcoma Tretinoin 17.8016283617 16116481
MESH:D012208 Rhabdomyosarcoma Valproic Acid 17.8019155313
MESH:D012554 Schistosomiasis japonica Quercetin 5.4216862918
MESH:D012559 Schizophrenia Valproic Acid 2.0519110320 15737665
MESH:D012640 Seizures Valproic Acid 2.6514763951 3137016 16876388 17978042 1511512 11044598 15475178 11738929
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 4.9518724381
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 13.0410029692 19755658
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 13.048532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 13.0416192470
MESH:D012878 Skin Neoplasms Tretinoin 13.0416467112
MESH:D016135 Spinal Dysraphism Valproic Acid 3.6819490988
MESH:D013226 Status Epilepticus Valproic Acid 4.4112833885
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 3.302093021 20155912
MESH:D013274 Stomach Neoplasms decitabine 3.3019037991
MESH:D013274 Stomach Neoplasms Tretinoin 3.3017261132
MESH:D013276 Stomach Ulcer Amiodarone 3.2018087811
MESH:D013345 Subarachnoid Hemorrhage pifithrin 5.9318364113
MESH:D013610 Tachycardia Amiodarone 4.1611238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.0619225199
MESH:D013959 Thyroid Diseases Amiodarone 11.6219731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 11.6212697716
MESH:D013964 Thyroid Neoplasms decitabine 6.9617967635
MESH:D013964 Thyroid Neoplasms Tretinoin 6.9617045167 16026305
MESH:D013971 Thyrotoxicosis Amiodarone 4.7319584973 18020914
MESH:D013978 Tibial Fractures Estradiol 4.5619048282
MESH:D013991 Tietze's Syndrome marker/mechanism
MESH:D014062 Tongue Neoplasms Tretinoin 3.6716051514
MESH:D016171 Torsades de Pointes Amiodarone 4.0611989578 17467628
MESH:D014178 Translocation, Genetic Valproic Acid 5.1017262798
MESH:D014376 Tuberculosis Tretinoin 3.1516040207
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.393119515
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.1017053015
MESH:D001749 Urinary Bladder Neoplasms decitabine 8.1019087683 17616700
MESH:D001749 Urinary Bladder Neoplasms Quercetin 8.1016720314
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.518888407
MESH:D014581 Urticaria Acetaminophen 2.8510982225
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.5616129372
MESH:D014604 Uveal Neoplasms decitabine 12.4017785578
MESH:D014604 Uveal Neoplasms Tretinoin 12.4016752155
MESH:D014605 Uveitis Cyclosporine 3.851336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.4712125929
MESH:D020301 Vasospasm, Intracranial pifithrin 5.4918364113
MESH:D014820 Vitiligo Tretinoin 3.9316761959
OMIM:193510 WAARDENBURG SYNDROME, TYPE 2A marker/mechanism
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.1215886252
MESH:D009396 Wilms Tumor Tretinoin 3.8516287080
MESH:D014985 Xerophthalmia Cyclosporine 4.3117120751
Pathway ID Pathway Name
KEGG:04916 Melanogenesis
KEGG:05218 Melanoma
KEGG:04380 Osteoclast differentiation
KEGG:05200 Pathways in cancer
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA30823
  • No data
    Releated disease ID Related disease Name
    PA446058Waardenburg's Syndrome
    PA444903Melanoma
    Releated drug ID Related drug Name
    PA10804imatinib
    Drug Bank Top

    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