AutismKB 2.0

Annotation Detail for SMAD5


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Basic Information Top
Gene Symbol:SMAD5 ( DKFZp781C1895,DKFZp781O1323,Dwfc,JV5-1,MADH5 )
Gene Full Name: SMAD family member 5
Band: 5q31.1
Quick LinksEntrez ID:4090; OMIM: 603110; Uniprot ID:SMAD5_HUMAN; ENSEMBL ID: ENSG00000113658; HGNC ID: 6771
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY66-11BMP Signalling Pathway
Pathway IDPathway Name
hsa04350TGF-beta signaling pathway
Pathway IDPathway Name
Signaling by BMP
Pathway IDPathway Name
200123BMP receptor signaling
200138ALK2 signaling events
200126ALK1 signaling events
Pathway IDPathway Name
P00052TGF-beta signaling pathway
P00057Wnt signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2022Liver cancer
2066Lung cancer
2069Schizophrenia
2193Helicobacter infection
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C031903 1-UFT protocol SMAD5 protein results in decreased susceptibility to 1-UFT protocoldecreases response to substance 16734730
C022909 5-methoxypsoralen 5-methoxypsoralen results in increased phosphorylation of SMAD5 proteinincreases phosphorylation 17980360
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SMAD5 mRNAaffects expression 16483693
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in decreased phosphorylation of SMAD5 proteindecreases phosphorylation 17975199
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 SMAD5 mRNAdecreases expression 20018196
C095105 bexarotene bexarotene results in increased expression of SMAD5 mRNAincreases expression 17178900
C031534 imperatorin imperatorin results in increased phosphorylation of SMAD5 proteinincreases phosphorylation 17980360
D010622 Phencyclidine Phencyclidine results in decreased expression of SMAD5 mRNAdecreases expression 12105081
D011794 Quercetin Quercetin results in decreased expression of SMAD5 mRNAdecreases expression 15309432
C017947 sodium arsenite sodium arsenite results in decreased expression of SMAD5 mRNAdecreases expression 16014739
C004648 testosterone enanthate testosterone enanthate affects the expression of SMAD5 mRNAaffects expression 17440010
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SMAD5 mRNAdecreases expression 19490992
D014810 Vitamin E Vitamin E results in decreased expression of SMAD5 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9611752688 14514962 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.6818287403
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4916835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.8315276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.0417306315 16712894
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D000743 Anemia, Hemolytic Quercetin 4.3217084956
MESH:D001260 Ataxia Telangiectasia Quercetin 5.0915336622
MESH:D001327 Autoimmune Diseases Quercetin 4.5119761891
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8115746008
MESH:D001943 Breast Neoplasms bexarotene 1.9916344269 16818667
MESH:D001943 Breast Neoplasms Quercetin 1.9918628248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9920435547
MESH:D002105 Cadmium Poisoning Quercetin 5.6816962696
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.0316050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8616835633
MESH:D006528 Carcinoma, Hepatocellular Quercetin 3.2619519916 12508355
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 3.2615276417 17306315 16507464
MESH:D002289 Carcinoma, Non-Small-Cell Lung bexarotene 3.2516247446
MESH:D021441 Carcinoma, Pancreatic Ductal Quercetin 5.0617234771
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 2.4018572023
MESH:D006332 Cardiomegaly Quercetin 6.9419794523
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 6.9416120746 18850075 18670907
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 6.9120889678
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 6.9119524636 20056578
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2316835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1315668235 8697196 16354765 15340226 12621046
MESH:D003110 Colonic Neoplasms Quercetin 2.4311134977 17148506 17191121 16640504 19056647 19440933 15741050
MESH:D015179 Colorectal Neoplasms Quercetin 2.1818852136 18095365
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5020055451 10048152 15322242
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5019769572
MESH:D003921 Diabetes Mellitus, Experimental Quercetin 3.8019496084
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5520420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8211462148
MESH:C538011 Eales disease Vitamin E 4.849068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4612711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0415322242 18230668 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.109294722 10568697
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.0920426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005355 Fibrosis Quercetin 9.1119474275
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.1120067830
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.8016452187
MESH:D005909 Glioblastoma Quercetin 3.4419804834
MESH:D005910 Glioma Quercetin 3.0817643826
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.7010048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 6.7016080930
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0015340226 12621046 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7316490937 16863852
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 5.8817440010
MESH:D006689 Hodgkin Disease sodium arsenite 3.2212676792
MESH:D019584 Hot Flashes Vitamin E 4.1114716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.188697196 16959395 16354765 18606429 15340226
MESH:D006943 Hyperglycemia Quercetin 4.1118262572 11834736
MESH:D006973 Hypertension Quercetin 5.3218356687
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3218670907 18850075
MESH:D007248 Infertility, Male sodium arsenite 3.0415346721 12646999
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8912878042 12200463
MESH:D007251 Influenza, Human Quercetin 11.5316624496
MESH:D007251 Influenza, Human Vitamin E 11.5316624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007627 Keloid Quercetin 5.0617086741
MESH:D007674 Kidney Diseases Quercetin 10.4516962696
MESH:D007674 Kidney Diseases sodium arsenite 10.4520008137
MESH:D007674 Kidney Diseases Vitamin E 10.4512488133
MESH:D007938 Leukemia Quercetin 3.1917468513
MESH:D008106 Liver Cirrhosis, Experimental Quercetin 3.5712741479
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5712878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.5716169303
MESH:D008113 Liver Neoplasms Quercetin 7.6418980244
MESH:D008113 Liver Neoplasms sodium arsenite 7.6415276417 16712894
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.6416984957
MESH:D008114 Liver Neoplasms, Experimental Quercetin 6.0919519916
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0912151625
MESH:D008171 Lung Diseases sodium arsenite 7.6219095001
MESH:D008171 Lung Diseases Vitamin E 7.6216863852
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.1317365036
MESH:D008175 Lung Neoplasms bexarotene 6.7017849452
MESH:D008175 Lung Neoplasms Quercetin 6.7016280456
MESH:D008175 Lung Neoplasms sodium arsenite 6.7015276417 16712894 17077188 19931552 17306315
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 6.7019555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 6.7011062179
MESH:D016410 Lymphoma, T-Cell, Cutaneous bexarotene 5.2511161223
MESH:D008325 Mammary Neoplasms, Experimental bexarotene 3.4615591091 19196722 19196723
MESH:D008545 Melanoma sodium arsenite 2.0416487513 19082730
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.2118303189 16966607 16166281
MESH:D009203 Myocardial Infarction Quercetin 3.0219595682
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D015428 Myocardial Reperfusion Injury Quercetin 3.8519207477
MESH:D009369 Neoplasms Quercetin 5.3815185748
MESH:D009369 Neoplasms sodium arsenite 5.3811559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.7720056578
MESH:D009376 Neoplasms, Hormone-Dependent bexarotene 4.9219196722
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3114600291
MESH:D009436 Neural Tube Defects sodium arsenite 3.1912854658
MESH:D020078 Neurogenic Inflammation Quercetin 4.4517929310
MESH:D015663 Osteoporosis, Postmenopausal Quercetin 4.3119495926
MESH:D010051 Ovarian Neoplasms Quercetin 5.1019005980
MESH:D010051 Ovarian Neoplasms sodium arsenite 5.1015276417 17306315
MESH:D010190 Pancreatic Neoplasms Quercetin 2.8716965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.0010923243
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011230 Precancerous Conditions Quercetin 4.0519056647
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3111118676 11399792 11896295 11222880
MESH:D011471 Prostatic Neoplasms Quercetin 2.6217292933 14715546
MESH:D011471 Prostatic Neoplasms sodium arsenite 2.6216039940
MESH:D011471 Prostatic Neoplasms Vitamin E 2.6215084515
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.0617975199 15814490 17322281 17365031
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012554 Schistosomiasis japonica Quercetin 5.6816862918
MESH:D012871 Skin Diseases Vitamin E 2.4618709164
MESH:D012878 Skin Neoplasms sodium arsenite 5.7118572023 19524636
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7116192470
MESH:D016135 Spinal Dysraphism sodium arsenite 3.8612854658
MESH:D020521 Stroke Vitamin E 3.5816517955
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D001749 Urinary Bladder Neoplasms Quercetin 5.3816720314
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 5.3816712894 17306315 16452187 11723127
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.8411813266
MESH:D014652 Vascular Diseases sodium arsenite 4.5417056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
Pathway ID Pathway Name
REACT:12034 Signaling by BMP
KEGG:04350 TGF-beta signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA30528
    • No data
    Releated disease ID Related disease Name
    PA444405Hemochromatosis
    No data
    Drug Bank Top

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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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