AutismKB 2.0

Annotation Detail for SBDS


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Basic Information Top
Gene Symbol:SBDS ( FLJ10917,SDS,SWDS )
Gene Full Name: Shwachman-Bodian-Diamond syndrome
Band: 7q11.21
Quick LinksEntrez ID:51119; OMIM: 607444; Uniprot ID:SBDS_HUMAN; ENSEMBL ID: ENSG00000126524; HGNC ID: 19440
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Immune system diseases
Primary immunodeficiency
H00101Other phagocyte defects
No data
No data
No data
Desease Name
Shwachman-Bodian-Diamond syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of SBDS mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SBDS mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of SBDS mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of SBDS mRNAaffects expression 17562736
C032036 bromobenzene bromobenzene results in decreased expression of SBDS mRNAdecreases expression 12628495
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of SBDS mRNAdecreases expression 17475347
C006253 pirinixic acid pirinixic acid results in increased expression of SBDS mRNAincreases expression 18301758
D018038 Sodium Selenite Sodium Selenite results in increased expression of SBDS mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of SBDS mRNAaffects binding|increases expression 16214954
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SBDS mRNAincreases expression 18796159
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1311752688 14514962 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.863712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.8716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.8716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.3411289319 1440618
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.4619483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.4612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6920435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.7716705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.7716705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.773581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.773084413
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.767296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4716120746 18670907 18850075
MESH:D002386 Cataract Acetaminophen 2.6910977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.126135515
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.127505956
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 14.269022650 19486331
MESH:D002779 Cholestasis Ethinyl Estradiol 14.2617681005 17333356 11677210 15861022 16919318 17110522 16105132
MESH:D002779 Cholestasis pirinixic acid 14.2619176532
MESH:D019457 Chromosome Breakage Sodium Selenite 5.0115894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1812621046 16354765 15668235 8697196 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.7718551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.7718551238
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.068156756 12868966 2524372 8970840 14531868 11298694 11906362 18759878
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.713621924 2952479
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9616285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 19.5518551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 19.5521346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 19.558291058 7440962 18289764 6482804 9653073 9328219 18692083 18648102 11289319 9022650 16192314 1440618 6679447
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 19.5512153990 16781746 19164858 11834606 16485898 19085960 12392966 16109766 14550746 10915739 19370779 14725611 15619225 11287661 16393943 12705907 19420014 16227642 17562736 12958197 12540782 16081117 10774834 16177239 2444490 19739265 11421492 10663392 12594235 11743745 17522070 18713872 19923254 14986274 11529661 18071297 15968718 19416960 11739529 11461765 17906064
MESH:D056486 Drug-Induced Liver Injury bromobenzene 19.5510092053 12628495
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 19.5515131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 19.5520420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema pirinixic acid 7.2312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.2311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4212538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.219294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.153581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.2415345470
MESH:D005234 Fatty Liver pirinixic acid 8.2419236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.346705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2120067830
MESH:D005756 Gastritis Acetaminophen 3.9916983495
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.267505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4310048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6520558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.756705139
MESH:D006529 Hepatomegaly pirinixic acid 9.1416221962 18467677 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.1415340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.368697196 16354765 15340226 16959395 18606429
MESH:D006930 Hyperalgesia Acetaminophen 2.8616870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2015034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9718850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6217937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9512878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 7.7416306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.7414714311
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.348074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3015629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.4216705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.4216705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 13.426582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3115034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1912878042
MESH:D008107 Liver Diseases Acetaminophen 1.6712969438 16611625 16610002 19460945 11587558 19014921 12587719 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4316871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.727678174
MESH:D008113 Liver Neoplasms pirinixic acid 7.7215890375 20007298 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7216984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.496135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.49598648 3712494 6587162 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.4912151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.2814737004
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.3218551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.327678174 18551238
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.543581430
MESH:D009369 Neoplasms pirinixic acid 2.0317405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.046679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0418514411
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 16.2312819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 16.2316049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 16.234026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.343988306
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.747296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.796228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811399792 11896295 11222880 11118676
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3618760546
MESH:D011537 Pruritus Ethinyl Estradiol 3.6015861022 16919318
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.523692021
MESH:D012640 Seizures 2,4-dinitrotoluene 6.3218551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.3218551238
OMIM:260400 SHWACHMAN-DIAMOND SYNDROME marker/mechanism
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1316192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.041399818 6587162 3712494 6582329 7505956
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.6916049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.6916049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.698074119
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.9610091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.9610091137
MESH:D014581 Urticaria Acetaminophen 3.2010982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7514671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
Pathway ID Pathway Name
KEGG:03008 Ribosome biogenesis in eukaryotes
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  (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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