AutismKB 2.0

Annotation Detail for SMAD9


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Basic Information Top
Gene Symbol:SMAD9 ( MADH6,MADH9,SMAD8,SMAD8A,SMAD8B )
Gene Full Name: SMAD family member 9
Band: 13q13.3
Quick LinksEntrez ID:4093; OMIM: 603295; Uniprot ID:SMAD9_HUMAN; ENSEMBL ID: ENSG00000120693; HGNC ID: 6774
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
No data
Related Diseases/Disorders Top
No data
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Desease Name
Pulmonary hypertension, primary
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C022909 5-methoxypsoralen 5-methoxypsoralen results in increased phosphorylation of SMAD9 proteinincreases phosphorylation 17980360
D015081 2-Naphthylamine 2-Naphthylamine results in increased expression of SMAD9 mRNAincreases expression 18247414
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SMAD9 mRNAaffects expression 16483693
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in decreased phosphorylation of SMAD9 proteindecreases phosphorylation 17975199
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of SMAD9 mRNAincreases expression 18247414
C031534 imperatorin imperatorin results in increased phosphorylation of SMAD9 proteinincreases phosphorylation 17980360
D009538 Nicotine Nicotine results in increased expression of SMAD9 mRNAincreases expression 18247414
D014212 Tretinoin Tretinoin results in increased expression of SMAD9 mRNAincreases expression 16604517
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0320127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.786695378
MESH:D000505 Alopecia Tretinoin 3.8115955085
MESH:D000544 Alzheimer Disease Nicotine 3.3216627626
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3819183758
MESH:D001169 Arthritis, Experimental Tretinoin 3.2116412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3116292516
MESH:D001249 Asthma Tretinoin 2.4016456186
MESH:D001471 Barrett Esophagus Tretinoin 4.6816935849
MESH:D001778 Blood Coagulation Disorders Tretinoin 3.8516197459 16206674
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0820146248 17474063
MESH:D001943 Breast Neoplasms Tretinoin 2.0816873071 16443354 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.9316813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.5416168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.911917145
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.7620419170
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.7616096774 16051514
MESH:D002386 Cataract Tretinoin 3.2217460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.9316129372
MESH:D002822 Choriocarcinoma Tretinoin 5.5416461808
MESH:D002972 Cleft Palate Tretinoin 2.759407595
MESH:D003092 Colitis Tretinoin 4.0117035595
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.8314991402 9211117 10589399 9142499 9125849 9224671 17551590 16925845 8800419 9664655
MESH:D020821 Dystonic Disorders Nicotine 6.2617881519
MESH:D004489 Edema, Cardiac Tretinoin 4.8418230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.2516569247
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0616530937
MESH:D005124 Eye Abnormalities Tretinoin 3.759664655 16938888
MESH:D005355 Fibrosis Tretinoin 3.8217994277
MESH:D005909 Glioblastoma Tretinoin 3.1517312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3416096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.5416084493
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 7.0320471113
MESH:D006330 Heart Defects, Congenital Tretinoin 7.039664655 14991402
MESH:D006930 Hyperalgesia Tretinoin 3.4016870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.8816778211
MESH:D006976 Hypertension, Pulmonary marker/mechanism
MESH:D007410 Intestinal Diseases Tretinoin 4.0717994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.1415992940 17551590
MESH:D007938 Leukemia Tretinoin 2.8717143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.9416482212 16932348 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1117596541 16294345 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3017294898 16766008 16935935 16140955 17301526 17368321 16823087 17107899 17361223 17217047 17649720 19642359 16891316 17712046 19075265 17506722 16788101 17339181 19225113 12679006 9834237 19029980 19035177 15748426 16331271
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.479224671
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 1.8118397230 16248980
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1120195826 21137059
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.3317365036
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5618816296 17053015 20135361 20464547 6695378 18520028 20869020 18569708 20064080
MESH:D008527 Medulloblastoma Tretinoin 2.8617453147
MESH:D008545 Melanoma Tretinoin 1.9716752155
MESH:D008591 Meningomyelocele Tretinoin 4.7316940565
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.2616966607 18303189 16166281
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3716381670
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2017596541
MESH:D009369 Neoplasms Benzo(a)pyrene 9.0411141357
MESH:D009369 Neoplasms Nicotine 9.0416365874
MESH:D009369 Neoplasms Tretinoin 9.0416946489 16594593
MESH:D009389 Neovascularization, Pathologic Nicotine 5.3316365874
MESH:D009421 Nervous System Malformations Tretinoin 4.069125849
MESH:D009436 Neural Tube Defects Tretinoin 3.209142499
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4016936753
MESH:D010146 Pain Tretinoin 3.1016870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5315976015
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.2010923243
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9317292933
MESH:D011507 Proteinuria Tretinoin 3.8616636307
MESH:D011625 Pterygium Tretinoin 5.1316723453
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.1017322281 17365031 15814490 17975199
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.3616116481 16283617
MESH:D012640 Seizures Nicotine 3.9517873105
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.0110029692 19755658
MESH:D012878 Skin Neoplasms Tretinoin 6.0116467112
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.3920155912 2093021
MESH:D013274 Stomach Neoplasms Tretinoin 2.3917261132
MESH:D013964 Thyroid Neoplasms Tretinoin 3.2116026305 17045167
OMIM:188890 TOBACCO ADDICTION, SUSCEPTIBILITY TO Nicotine 4.9016720336 11259349 16785264
MESH:D014029 Tobacco Use Disorder Nicotine 5.7518041664 18305452 17979512 15735609
MESH:D014062 Tongue Neoplasms Tretinoin 4.0216051514
MESH:D014376 Tuberculosis Tretinoin 3.3616040207
MESH:D001749 Urinary Bladder Neoplasms 2-Naphthylamine 5.7711144890
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.7717053015
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.9016129372
MESH:D014604 Uveal Neoplasms Tretinoin 4.9916752155
MESH:D014820 Vitiligo Tretinoin 4.3416761959
MESH:D009396 Wilms Tumor Tretinoin 4.1816287080
Pathway ID Pathway Name
REACT:12034 Signaling by BMP
KEGG:04350 TGF-beta signaling pathway
Pharmacogenomics Knowledge Base 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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