AutismKB 2.0

Annotation Detail for SMARCAL1


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Basic Information Top
Gene Symbol:SMARCAL1 ( HARP,HHARP )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
Band: 2q35
Quick LinksEntrez ID:50485; OMIM: 606622; Uniprot ID:SMAL1_HUMAN; ENSEMBL ID: ENSG00000138375; HGNC ID: 11102
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
P00057Wnt signaling pathway
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Related Diseases/Disorders Top
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Desease Name
Schimke immunoosseous dysplasia
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of SMARCAL1 mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of SMARCAL1 mRNAaffects expression 17562736
D016572 Cyclosporine Cyclosporine results in increased expression of SMARCAL1 mRNAincreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SMARCAL1 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of SMARCAL1 mRNAdecreases expression 17942748
D013629 Tamoxifen Tamoxifen affects the expression of SMARCAL1 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SMARCAL1 mRNAincreases expression 19465110
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SMARCAL1 mRNAincreases expression 18796159
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.0714745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3115322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.923712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.541440618 11289319
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9319487384 16818667 20390343 19066611 17261762 19011961 16273361 16202921 21152245 19289846 19115204 20544844 17242785 18425577 20859285 18997820 17440819 19142967 19410462 19084267 19059307 19244106 19221464 19155303 21138602 18629630 18815881 15668708 16873071 15565566 17893378 18351453 19200415 20135344 17049068 19103187 19288272 18855134 19189212 18821012 19189210 18984771 20005174 11161223 20065188
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9320435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.9219066611
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.743581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.743084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.7416924424
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.807296757
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.9217572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218670907 18850075 16120746
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.277505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.2712371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 14.759022650 19486331
MESH:D002779 Cholestasis Cyclosporine 14.7519486331
MESH:D002779 Cholestasis Ethinyl Estradiol 14.7517333356 15861022 17681005 16919318 17110522 11677210 16105132
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2116354765 15340226 12621046 15668235 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7819031437
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.2112868966 8970840 11906362 18759878 8156756 11298694 2524372 14531868
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.842952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7619279558
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.566482804 9328219 18648102 1440618 6679447 8291058 9653073 7440962 16192314 9022650 18692083 18289764 11289319
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.5615619225 11834606 11287661 10774834 18713872 12594235 11529661 12392966 11739529 14986274 10915739 16781746 17906064 19370779 19923254 16109766 2444490 16227642 12705907 11461765 12153990 18071297 10663392 17562736 14550746 14725611 11743745 16485898 12540782 19416960 16177239 19420014 19164858 19739265 16393943 11421492 17522070 15968718 16081117 19085960 12958197
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5620420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7012711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4218230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.2412538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.2419031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2416202921 17893378 20544844 19155303
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.173581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Cyclosporine 15.0219224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 15.0215345470
MESH:D005234 Fatty Liver Tamoxifen 15.0214986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4116709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.546705139
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9914745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.6419069698
MESH:D005355 Fibrosis Cyclosporine 9.9112168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.9120067830
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.688708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.397505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4710048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8815720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.896705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3116120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5716354765 18606429 8697196 15340226 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.3615034207
MESH:D006973 Hypertension Cyclosporine 5.2810903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2818670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316569931 16945680
OMIM:242900 IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE marker/mechanism
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tamoxifen 5.3719457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3712200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.548074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.9615604871
MESH:D007674 Kidney Diseases Acetaminophen 6.3412587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.3418776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 13.986582329
MESH:D007680 Kidney Neoplasms Cyclosporine 13.9812371664
MESH:D007680 Kidney Neoplasms Tamoxifen 13.9818625569
MESH:D008064 Lipidoses Tamoxifen 3.3717567588 15342952
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.389327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3618564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3612878042
MESH:D008107 Liver Diseases Acetaminophen 1.6912969438 19784758 19014921 16610002 19460945 12587719 16611625 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5416871587 17185352
MESH:D008113 Liver Neoplasms Tamoxifen 4.7216684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7216984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.34598648 3712494 6587162 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.3412151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.3218625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3219555203 11884234
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.2219428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8119196723 19196722 16827153 11731420 14580682
MESH:D020149 Manganese Poisoning Tamoxifen 5.0719453300
MESH:D008545 Melanoma Tamoxifen 1.9119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.6415990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.3116801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 6.053581430
MESH:D009362 Neoplasm Metastasis Tamoxifen 6.0519393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6019410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.5219196722 19200415 19189210
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.9617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5718481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.106679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.726482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.543988306
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.907296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.996228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5112371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511896295 11399792 11118676 11222880
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1015067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.7715861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.3116882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.613692021
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 13.3616709447
MESH:D013088 Spermatocele Tamoxifen 13.3616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.5019457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.126587162 7505956 1399818 6582329 3712494
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.388074119
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.388653321 16712894 17572228
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D014605 Uveitis Cyclosporine 4.501336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.9617120751
No data
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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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