AutismKB 2.0

Annotation Detail for NOTCH3


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Basic Information Top
Gene Symbol:NOTCH3 ( CADASIL,CASIL )
Gene Full Name: notch 3
Band: 19p13.12
Quick LinksEntrez ID:4854; OMIM: 600276; Uniprot ID:NOTC3_HUMAN; ENSEMBL ID: ENSG00000074181; HGNC ID: 7883
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04320Dorso-ventral axis formation
hsa04330Notch signaling pathway
Pathway IDPathway Name
Gene Expression
Signaling by Notch
Pathway IDPathway Name
200013Notch signaling pathway
Pathway IDPathway Name
P00004Alzheimer disease-presenilin pathway
P00045Notch signaling pathway
Pathway IDPathway Name
500112Maturation of Notch precursor via proteolytic cleavage
500111Transport of Notch receptor precursor to golgi
500110Signaling by Notch
500117NICD trafficks to nucleus
500116A third proteolytic cleavage releases NICD
500115Receptor-ligand binding initiates the second proteolytic cleavage of Notch receptor
500114Notch receptor binds with a ligand
500113Mature Notch receptor trafficks to plasma membrane
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of NOTCH3 mRNAincreases expression 16788091
D000082 Acetaminophen Acetaminophen affects the expression of NOTCH3 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of NOTCH3 mRNAaffects expression 16483693
D002101 Cacodylic Acid Cacodylic Acid results in increased expression of NOTCH3 mRNAincreases expression 17720352
D004041 Dietary Fats Dietary Fats results in increased expression of NOTCH3 mRNAincreases expression 18042831
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of NOTCH3 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of NOTCH3 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of NOTCH3 mRNAaffects cotreatment|increases expression 17942748
D017313 Fenretinide Fenretinide results in decreased expression of NOTCH3 mRNAdecreases expression 16467112
D007657 Ketone Bodies Ketone Bodies results in decreased expression of NOTCH3 mRNAdecreases expression 16807920
D008070 Lipopolysaccharides Lipopolysaccharides results in increased expression of NOTCH3 mRNAincreases expression 12057914
C058346 N-(4-methoxyphenyl)retinamide N-(4-methoxyphenyl)retinamide results in decreased expression of NOTCH3 mRNAdecreases expression 16467112
C041786 palm oil palm oil results in increased expression of NOTCH3 mRNAincreases expression 18042831
D020849 Raloxifene Raloxifene affects the expression of NOTCH3 mRNAaffects expression 14699072
C010327 salinomycin salinomycin results in decreased expression of NOTCH3 mRNAdecreases expression 19682730
D012643 Selenium Selenium results in increased expression of NOTCH3 mRNAincreases expression 19244175
D013629 Tamoxifen Tamoxifen affects the expression of NOTCH3 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of NOTCH3 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of NOTCH3 mRNAincreases expression 16962184
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.5814745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.8715322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.5818287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.9717505938
MESH:D055371 Acute Lung Injury Lipopolysaccharides 4.0411850527 18653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.5914692618
MESH:D000230 Adenocarcinoma Fenretinide 4.5910697514
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4016835633
MESH:D000419 Albuminuria Raloxifene 4.6017451421 17308373
MESH:D000544 Alzheimer Disease Raloxifene 2.5415800139
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9511748828
MESH:D000799 Angioedema Acetaminophen 3.8710982225
MESH:D001161 Arteriosclerosis Dietary Fats 9.9515238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 9.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6615885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.0512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7615746008
MESH:D001930 Brain Injuries Raloxifene 4.4916580743
MESH:D001932 Brain Neoplasms Fenretinide 4.3516187019
MESH:D001943 Breast Neoplasms Cacodylic Acid 3.7817474063
MESH:D001943 Breast Neoplasms Dietary Fats 3.7820435547
MESH:D001943 Breast Neoplasms Fenretinide 3.7816601279
MESH:D001943 Breast Neoplasms Raloxifene 3.7816912660 17440819 17242785 17049068 17893378 17952589 15572757 17595753 15758505 16837676 17261762 15775269
MESH:D001943 Breast Neoplasms salinomycin 3.7819682730
MESH:D001943 Breast Neoplasms Tamoxifen 3.7811161223 18821012 15668708 20390343 19084267 18855134 16202921 17261762 15565566 19066611 19189210 21152245 19189212 20065188 21138602 18425577 19410462 19244106 19115204 18629630 18351453 16818667 19142967 19059307 20135344 19288272 19221464 20859285 20544844 18997820 18815881 19289846 17893378 17049068 16873071 20005174 19011961 17440819 19155303 19103187 19487384 17242785 18984771 19200415 16273361
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 3.7820435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8016835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.5219066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.663084413
MESH:D006528 Carcinoma, Hepatocellular Fenretinide 4.6617159502 16270382
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.6616924424
MESH:D002294 Carcinoma, Squamous Cell Fenretinide 3.1816274795
MESH:D002295 Carcinoma, Transitional Cell Raloxifene 9.5117572228
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 9.5117572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3716120746 18670907 18850075
MESH:D002318 Cardiovascular Diseases Raloxifene 3.4515775269
MESH:D002386 Cataract Acetaminophen 2.5810977129
OMIM:125310 CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY marker/mechanism
MESH:D018290 Cervical Intraepithelial Neoplasia Fenretinide 5.5016154183
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D002779 Cholestasis Ethinyl Estradiol 2.8815861022 17681005 17333356 16919318 11677210 16105132 17110522
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1015340226 12621046 8697196 15668235 16354765
MESH:D003072 Cognition Disorders Raloxifene 4.6315800139
MESH:D003092 Colitis Selenium 3.7917936198
MESH:D015179 Colorectal Neoplasms Fenretinide 2.6817273769
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0617141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2515322242 10048152 20055451
MESH:D003711 Demyelinating Diseases Tamoxifen 4.3819031437
MESH:D003865 Depressive Disorder, Major Raloxifene 4.1617474826
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6717107852
MESH:D003928 Diabetic Nephropathies Raloxifene 9.0417308373 15920148 17451421
MESH:D003928 Diabetic Nephropathies Tamoxifen 9.0419279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.1511743745 16781746 11529661 11834606 12540782 16227642 16485898 19739265 10663392 11287661 17522070 10915739 11421492 16109766 12392966 12958197 2444490 18713872 19923254 14986274 12594235 18071297 14550746 16177239 19420014 19416960 16393943 14725611 10774834 19085960 12153990 17906064 11739529 12705907 19164858 11461765 19370779 16081117 15968718 15619225 17562736
MESH:D056486 Drug-Induced Liver Injury Selenium 6.1515131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.1520420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1319426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7611462148
MESH:D050171 Dyslipidemias Dietary Fats 3.4518367378
MESH:D004487 Edema Raloxifene 6.8715860553
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.8711000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.9318230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 15.4212538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Raloxifene 15.4215845917
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 15.4219031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.0517893378 19155303 16202921 20544844
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.0210568697 9294722
MESH:D019446 Endotoxemia Lipopolysaccharides 4.4215328337 15821434 17637181
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0111564622
MESH:D005234 Fatty Liver Dietary Fats 18.8418296743 19004024 19551842 17967931
MESH:D005234 Fatty Liver Ethinyl Estradiol 18.8415345470
MESH:D005234 Fatty Liver Raloxifene 18.8417473493
MESH:D005234 Fatty Liver Tamoxifen 18.8414986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.2416709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.4711858732
MESH:D005334 Fever Lipopolysaccharides 4.029205823 11852909
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.5514745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.2019069698
MESH:D005355 Fibrosis Dietary Fats 8.6718296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.6720067830
MESH:D005756 Gastritis Acetaminophen 3.7116983495
MESH:D005909 Glioblastoma Fenretinide 3.8916187019
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3311294989 10048152
MESH:D006331 Heart Diseases Raloxifene 3.5411110106
MESH:D006333 Heart Failure Selenium 3.0717162251
MESH:D006463 Hemolytic-Uremic Syndrome Lipopolysaccharides 4.3916366002
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3411000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 2.9115340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.088697196 16354765 15340226 18606429 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.7016870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.6021332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.6221332399
MESH:D006973 Hypertension Raloxifene 5.2317577099 15787275
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2318850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 3.8216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.4917937319
MESH:D007249 Inflammation Dietary Fats 11.9920412841
MESH:D007249 Inflammation Lipopolysaccharides 11.9917255318 9205823 17237260 12878042 17963957
MESH:D007249 Inflammation Tamoxifen 11.9919457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 11.9912200463 12878042
MESH:D007251 Influenza, Human Selenium 4.2316624496
MESH:D007333 Insulin Resistance Dietary Fats 3.1111836018 18457598
MESH:D019189 Iron Metabolism Disorders Lipopolysaccharides 4.6417255318
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3416580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2012587719 15629191
MESH:D007676 Kidney Failure, Chronic Selenium 3.8916518626
MESH:D007680 Kidney Neoplasms Tamoxifen 3.0418625569
MESH:D007889 Leiomyoma Raloxifene 4.5016973256
MESH:D007970 Leukopenia Lipopolysaccharides 4.7215821434
MESH:D007972 Leukoplakia, Oral Fenretinide 6.0716707609
MESH:D008064 Lipidoses Tamoxifen 3.1617567588 15342952
MESH:D008103 Liver Cirrhosis Dietary Fats 2.8818296743
MESH:D008106 Liver Cirrhosis, Experimental Lipopolysaccharides 3.5112878042
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.5118564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5112878042
MESH:D008107 Liver Diseases Acetaminophen 1.6312969438 16611625 12587719 16610002 19460945 11587558 19784758 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2416871587 17185352
MESH:D008113 Liver Neoplasms Tamoxifen 4.4016684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.4016984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1112151625
MESH:D055370 Lung Injury Lipopolysaccharides 4.0221114838
MESH:D008175 Lung Neoplasms Tamoxifen 2.2518625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2511884234 19555203
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.7819428831
MESH:D008325 Mammary Neoplasms, Experimental Fenretinide 14.3910697514
MESH:D008325 Mammary Neoplasms, Experimental salinomycin 14.3919682730
MESH:D008325 Mammary Neoplasms, Experimental Selenium 14.3915318939
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 14.3914580682 19196722 11731420 19196723 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 4.5819453300
MESH:D008545 Melanoma Fenretinide 3.6116270382
MESH:D008545 Melanoma Tamoxifen 3.6119393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.2015990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5819513568
MESH:D008654 Mesothelioma Selenium 2.7915107826
MESH:D018200 Mixed Tumor, Mullerian Raloxifene 5.5815863610
MESH:D009062 Mouth Neoplasms Fenretinide 4.3216274795
MESH:D009101 Multiple Myeloma Raloxifene 3.4416497877
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0212213967
MESH:D009232 Myxoma Raloxifene 5.5816343187
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5519393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5219410462
MESH:D009369 Neoplasms Fenretinide 3.2917353921 15958647
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.0319189210 19196722 19200415
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.2214600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8718514411
MESH:D009472 Neuronal Ceroid-Lipofuscinoses Fenretinide 5.7016303764
MESH:D009765 Obesity Dietary Fats 2.2920518802 19632207 16723640 21332399 18457598 11836018 20132043 18674790 17217161
MESH:D010024 Osteoporosis Raloxifene 3.3917882678 15775268 19059307
MESH:D015663 Osteoporosis, Postmenopausal Raloxifene 4.2317823083 15579764 17893378 15758505
MESH:D010051 Ovarian Neoplasms Fenretinide 3.2316133793
MESH:D010146 Pain Acetaminophen 2.3916870215
MESH:D010190 Pancreatic Neoplasms Fenretinide 3.3515580305
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6911578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.2812520081
MESH:D010954 Plasmacytoma Selenium 4.9215087411
MESH:D011014 Pneumonia Lipopolysaccharides 4.5711605937 12224865
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5718163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.2111399792 11896295 11222880 11118676
MESH:D011471 Prostatic Neoplasms Fenretinide 2.7317024972
MESH:D011471 Prostatic Neoplasms Raloxifene 2.7316220300 15731164 16536755
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.7315067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.3315861022 16919318
MESH:D011693 Purpura Raloxifene 5.5815770314
MESH:D012130 Respiratory Hypersensitivity Lipopolysaccharides 3.7310835634
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8518990726
MESH:D012162 Retinal Degeneration Fenretinide 4.4016303925
MESH:D012878 Skin Neoplasms Fenretinide 9.7816467112
MESH:D012878 Skin Neoplasms N-(4-methoxyphenyl)retinamide 9.7816467112
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.7816192470
MESH:D013088 Spermatocele Ethinyl Estradiol 11.6616709447
MESH:D013088 Spermatocele Tamoxifen 11.6616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.0619457130
MESH:D020521 Stroke Raloxifene 3.8216837676
MESH:D013921 Thrombocytopenia Lipopolysaccharides 4.1715821434
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6311994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.1515669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.9312697716
MESH:D013978 Tibial Fractures Raloxifene 5.2419048282
MESH:D001749 Urinary Bladder Neoplasms Cacodylic Acid 12.0715537745
MESH:D001749 Urinary Bladder Neoplasms Fenretinide 12.0716720286
MESH:D001749 Urinary Bladder Neoplasms Raloxifene 12.0717572228
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 12.0716712894 17572228 8653321
MESH:D014581 Urticaria Acetaminophen 2.9810982225
MESH:D002583 Uterine Cervical Neoplasms Fenretinide 4.5716154183
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.3114692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6212125929
MESH:D054556 Venous Thromboembolism Raloxifene 5.2416837676
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5415869587 14671159
MESH:D014846 Vulvar Neoplasms Raloxifene 5.5816343187
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.2815886252
MESH:D015430 Weight Gain Dietary Fats 3.7416723640
Pathway ID Pathway Name
KEGG:04320 Dorso-ventral axis formation
REACT:71 Gene Expression
KEGG:04330 Notch signaling pathway
REACT:299 Signaling by Notch
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA31685
    • Releated gene ID Related gene Name
    PA31685NOTCH3
    No data
    No data
    Drug Bank Top

    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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