AutismKB 2.0

Annotation Detail for SMAD6


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Basic Information Top
Gene Symbol:SMAD6 ( HsT17432,MADH6,MADH7 )
Gene Full Name: SMAD family member 6
Band: 15q22.31
Quick LinksEntrez ID:4091; OMIM: 602931; Uniprot ID:SMAD6_HUMAN; ENSEMBL ID: ENSG00000137834; HGNC ID: 6772
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY66-11BMP Signalling Pathway
Pathway IDPathway Name
hsa04144Endocytosis
hsa04350TGF-beta signaling pathway
Pathway IDPathway Name
Signaling by TGF beta
Signaling by BMP
Pathway IDPathway Name
200123BMP receptor signaling
Pathway IDPathway Name
P00052TGF-beta signaling pathway
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of SMAD6 mRNAdecreases expression 19933214
C006632 arsenic trioxide arsenic trioxide results in decreased expression of SMAD6 mRNAdecreases expression 20458559
D001554 Benzene TP53 protein inhibits the reaction [Benzene results in increased expression of SMAD6]decreases reaction|increases expression 15935813
C006780 bisphenol A bisphenol A affects the expression of SMAD6 mRNAaffects expression 20170705
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of SMAD6 mRNAaffects expression 17484886
D002117 Calcitriol Calcitriol results in decreased expression of SMAD6 mRNAdecreases expression 16002434
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SMAD6 mRNAaffects expression 20170705
C056599 icariin SMAD6 protein inhibits the reaction [icariin results in increased expression of BGLAP mRNA]decreases reaction|increases expression 18295595
C056599 icariin SMAD6 protein inhibits the reaction [icariin results in increased expression of SPP1 mRNA]decreases reaction|increases expression 18295595
D009151 Mustard Gas Mustard Gas results in increased expression of SMAD6 mRNAincreases expression 15674844
D010269 Paraquat Paraquat affects the expression of SMAD6 mRNAaffects expression 16854511
C017947 sodium arsenite sodium arsenite results in increased expression of SMAD6 mRNAincreases expression 16966095
12016162
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SMAD6 mRNAdecreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0014514962 11752688 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1217505938
MESH:D000230 Adenocarcinoma arsenic trioxide 4.3719825857 11798837
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3714692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5316835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.8715276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.0816712894 17306315
MESH:D000382 Agricultural Workers' Diseases Paraquat 3.9211874814
MESH:D000544 Alzheimer Disease icariin 3.7819782061 19858766
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0511748828
MESH:D000741 Anemia, Aplastic Benzene 4.4511369114 14761424 17661222
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6011256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7315885639
MESH:D001249 Asthma Mustard Gas 2.7410378619
MESH:D001768 Blister Mustard Gas 5.3119167455
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 9.3316206674
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9615340226
MESH:D001847 Bone Diseases icariin 6.5618295595
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8315746008
MESH:D001855 Bone Marrow Diseases Benzene 5.4016183116
MESH:D001862 Bone Resorption bisphenol A 3.9711985600
MESH:D002545 Brain Ischemia icariin 5.6319303870
MESH:D001943 Breast Neoplasms Benzene 2.0117162533 11921183
MESH:D001943 Breast Neoplasms bisphenol A 2.0117123778
MESH:D001943 Breast Neoplasms Calcitriol 2.0111237771
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0120435547
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.3115286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.1517687719 10378619
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.4511589617
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.9216011737 16050911 10355542 15700767 18705752 15673190 16097048 3786805 16124888 16227642 16192424 15721981
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8916835633
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 4.7115073043 11135700 16217749 15553829 14691202
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.7118788625
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 4.7116507464 15276417 17306315
MESH:D002278 Carcinoma in Situ bisphenol A 5.1417123778
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.0519014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.2212490120
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 4.9111237771
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 4.9118572023
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4218670907 16120746 18850075
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 3.0620056578 19524636
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2616835633
MESH:D002779 Cholestasis Ethinyl Estradiol 2.9516919318 17110522 17681005 15861022 16105132 11677210 17333356
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.148697196 12621046 15340226 15668235 16354765
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1614669216 17141729
MESH:D023903 Coronary Restenosis arsenic trioxide 4.3112609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 3.9010525206
MESH:D019465 Craniofacial Abnormalities Benzene 3.9015643154
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.9010048152 15322242 20055451
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.2115213294
MESH:D003872 Dermatitis Benzene 4.9015902427
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 3.8217522070 3732212 19085960 10092053 11566570 3786805 7440962 15027814 16227642 6623471 2869522 15998439 9327722 21278145 16177239 7120509 4309450 10915739 15968718 19336974 7179309 6884620
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8411462148
MESH:D004487 Edema Mustard Gas 7.219260866 11428647 11428631 11402378
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.2111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0818230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 9.5215138306
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.5212538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1210568697 9294722
MESH:D007172 Erectile Dysfunction icariin 5.5616281085 15329286
MESH:D004890 Erythema Mustard Gas 5.319357497
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3312903497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0911564622
MESH:D005234 Fatty Liver arsenic trioxide 13.7715073043
MESH:D005234 Fatty Liver Carbon Tetrachloride 13.7712631006 15959796 12795759 61145 16239168 17595544 19224547 16045604
MESH:D005234 Fatty Liver Ethinyl Estradiol 13.7715345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5911858732
MESH:D005355 Fibrosis Carbon Tetrachloride 9.0618705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.0620067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.3916904648
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.8316452187
MESH:D005911 Gliosis Paraquat 5.3411124998
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3810048152 11294989
MESH:D006402 Hematologic Diseases Benzene 4.7716183116
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4411000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.7219110552 19900420
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0316120746 15340226 12621046
MESH:D006689 Hodgkin Disease sodium arsenite 3.2512676792
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2216959395 15340226 8697196 16354765 18606429
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.6916899240
MESH:D006973 Hypertension Benzene 5.4417940673
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.4418850075 18670907
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.2315338365
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9516945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 11.6617937319
MESH:D007248 Infertility, Male Paraquat 11.664850670
MESH:D007248 Infertility, Male sodium arsenite 11.6612646999 15346721
MESH:D007249 Inflammation Mustard Gas 5.229357497 16001271 17524151 11428647 8975870 9260866 11402378 11428631 11428620
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2212200463 12878042
MESH:D007333 Insulin Resistance bisphenol A 3.3616393666
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4416580747
MESH:D007674 Kidney Diseases sodium arsenite 2.8620008137
MESH:D007859 Learning Disorders icariin 5.4619782061
MESH:D007938 Leukemia arsenic trioxide 6.7415070760
MESH:D007938 Leukemia Benzene 6.7418335105 17119257 14694614 15935818
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.9017077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.4616972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5114633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 10.0719077051
MESH:D007951 Leukemia, Myeloid Benzene 10.0717506065
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 4.1717050201 19850784 16968895 16467208 20471514
MESH:D015470 Leukemia, Myeloid, Acute Benzene 4.1719478238
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.2816891316 17217047 17649720 19225113 15213294 16112521 19075265 19642359 16823087 11161223 15622746 16331271 17712046 11468182 12712474 15336539 9834237 17107899 12679006 15748426 12018890 19035177 17869043 16330433 16966277
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.4816882451
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.8621278145 11903743 17334410 17174718 16239168 17157831 11408273 16943688 16221502
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.3112741479 17922224 15057751 18376398 15876570 14512876 18279442 15370692 18205269 18472094 18317297 12666154 16116963 18251166 17708605 18263696 15338365 17823541 12632514 16015684 15996030 12445418 18339082 18395095 12632512 17714472 18156304 17900296 17805973 15650968 16248980 15931870 15730626 16011737 17761835 17869086 13678700 15893842 12445421 16136751 18418968 12609069 15123356 15818738 18187930 20821823 16027843 18412020 10355542 17557913 15362042 16097048 15673190 18472332 18210741 12649538 12667390 16033810 18705752 12389079 17944888 14748882 17525996 18277467 12586293 18166357 12958196 17698563 18481824 18395914 17631135 14724832 18429990 15925388 17565644 14716833 17766677 18420326 17721639 17976157 17640975 12898905 16192424 11481614 17481882 18006644 14620537 18054572 14716496 16638106 15959796 12546737 15052691
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3112878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1015720792 16246199 16964402 15830285 17285989
MESH:D017093 Liver Failure Carbon Tetrachloride 4.3015123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.7916899240 14706259
MESH:D008113 Liver Neoplasms arsenic trioxide 11.0214682389
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 11.0219294768
MESH:D008113 Liver Neoplasms sodium arsenite 11.0215276417 16712894
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.0216984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 14.7020377131
MESH:D008114 Liver Neoplasms, Experimental Benzene 14.7012562636
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 14.7012014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 14.7012151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4315213294
MESH:D008171 Lung Diseases Mustard Gas 7.7818161513 18702808
MESH:D008171 Lung Diseases sodium arsenite 7.7819095001
MESH:D017563 Lung Diseases, Interstitial Benzene 4.9814698565
MESH:D008175 Lung Neoplasms arsenic trioxide 6.7319825857 11798837
MESH:D008175 Lung Neoplasms Benzene 6.7312562636
MESH:D008175 Lung Neoplasms Mustard Gas 6.738781369 3148597
MESH:D008175 Lung Neoplasms sodium arsenite 6.7317306315 16712894 15276417 17077188 19931552
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 6.7319555203 11884234
MESH:D008223 Lymphoma Benzene 3.8117584886 17119257
MESH:D015674 Mammary Neoplasms, Animal Benzene 4.6012562636
MESH:D008325 Mammary Neoplasms, Experimental Benzene 3.3711921183
MESH:D008545 Melanoma sodium arsenite 2.0419082730 16487513
MESH:D008569 Memory Disorders icariin 5.4219782061
MESH:D009101 Multiple Myeloma arsenic trioxide 7.7511468182 15949261 19549372 19417148 14977855
MESH:D009101 Multiple Myeloma Benzene 7.7517119195
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.8518349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2016882451 16105982
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1112213967
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.0916624393
MESH:D009369 Neoplasms sodium arsenite 2.5411559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.8020056578
MESH:D009410 Nerve Degeneration Paraquat 3.8016893418
MESH:D009421 Nervous System Malformations bisphenol A 10.0111399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.0114600291
MESH:D009436 Neural Tube Defects arsenic trioxide 12.6510525206
MESH:D009436 Neural Tube Defects Benzene 12.6515643154
MESH:D009436 Neural Tube Defects sodium arsenite 12.6512854658
MESH:D009503 Neutropenia Mustard Gas 4.0916761898 7688884
MESH:D009784 Occupational Diseases Benzene 4.2815576619 15935809 17119257 15727169 17178637 15612468 17479406 15913788 16737584
MESH:D010024 Osteoporosis icariin 4.6819747809 18236786
MESH:D010049 Ovarian Diseases bisphenol A 5.1411985600
MESH:D010051 Ovarian Neoplasms arsenic trioxide 8.1719769630 12452020 16624393
MESH:D010051 Ovarian Neoplasms Benzene 8.1712562636
MESH:D010051 Ovarian Neoplasms sodium arsenite 8.1717306315 15276417
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5615580305
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8011578682
MESH:D010235 Paraganglioma arsenic trioxide 4.2819927285
MESH:D010300 Parkinson Disease Paraquat 2.8516140633 11181820 16510128 11124998 15824117 12911755 15451049 11445065
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.5716190885
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4212520081
MESH:D011014 Pneumonia Paraquat 4.6112504350
MESH:D011041 Poisoning Mustard Gas 3.9115727166
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6918163543
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 10.0310548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.0311222880 11118676 11399792 11896295
MESH:D011470 Prostatic Hyperplasia Calcitriol 4.9315572423
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.3220887781
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.0919131511
MESH:D011471 Prostatic Neoplasms bisphenol A 2.0916740699
MESH:D011471 Prostatic Neoplasms Calcitriol 2.0915754350 16644109 16289102 12479363 18247401
MESH:D011471 Prostatic Neoplasms sodium arsenite 2.0916039940
MESH:D011537 Pruritus Ethinyl Estradiol 10.0516919318 15861022
MESH:D011537 Pruritus Mustard Gas 10.0518058305
MESH:D011629 Puberty, Precocious bisphenol A 4.9410548101
MESH:D011658 Pulmonary Fibrosis Mustard Gas 6.0017620002 17720292 17266442 17894541 10334151
MESH:D011658 Pulmonary Fibrosis Paraquat 6.0016324872 17997886
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 4.0211700416
MESH:D012135 Respiratory Sounds Paraquat 4.1911874814
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9618990726
MESH:D012162 Retinal Degeneration Paraquat 3.9516458197
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.0916646077
MESH:D012871 Skin Diseases Mustard Gas 2.7412880345 15451306 16961503
MESH:D012878 Skin Neoplasms sodium arsenite 5.7518572023 19524636
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7516192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1216709447
MESH:D016135 Spinal Dysraphism sodium arsenite 3.8812854658
MESH:D013274 Stomach Neoplasms arsenic trioxide 2.7117007042
MESH:D013274 Stomach Neoplasms Benzene 2.7112562636
MESH:D019966 Substance-Related Disorders bisphenol A 4.1416045194 16684133
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2515669648
MESH:D013953 Thymus Neoplasms Benzene 5.1110850423
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0812697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.1719014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.1115213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 5.2920435036 11780464 12845720 12973940
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 5.2911723127 16452187 16712894 17306315
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.8711813266
MESH:D014591 Uterine Diseases bisphenol A 5.1814652134
MESH:D014594 Uterine Neoplasms Benzene 10.0012562636
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 10.0014692618
MESH:D014652 Vascular Diseases sodium arsenite 4.5817056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6515869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4215886252
Pathway ID Pathway Name
KEGG:04144 Endocytosis
REACT:12034 Signaling by BMP
REACT:6844 Signaling by TGF beta
KEGG:04350 TGF-beta signaling pathway
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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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