AutismKB 2.0

Annotation Detail for NDUFS3


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Basic Information Top
Gene Symbol:NDUFS3 ( CI-30 )
Gene Full Name: NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
Band: 11p11.2
Quick LinksEntrez ID:4722; OMIM: 603846; Uniprot ID:NDUS3_HUMAN; ENSEMBL ID: ENSG00000213619; HGNC ID: 7710
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05016Huntington's disease
hsa05010Alzheimer's disease
hsa05012Parkinson's disease
hsa00190Oxidative phosphorylation
hsa01100Metabolic pathways
Pathway IDPathway Name
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncou
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1983Down syndrome
No data
No data
Desease Name
Leigh syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of NDUFS3 mRNAaffects expression 17562736
D002746 Chlorpromazine Chlorpromazine results in decreased expression of NDUFS3 proteindecreases expression 19441803
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of NDUFS3 mRNAaffects cotreatment|affects expression 17602206
D016572 Cyclosporine Cyclosporine results in decreased expression of NDUFS3 mRNAdecreases expression 20106945
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of NDUFS3 mRNAaffects cotreatment|affects expression 17602206
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of NDUFS3 mRNAaffects cotreatment|increases expression 17942748
D012643 Selenium Selenium results in increased expression of NDUFS3 mRNAincreases expression 19244175
D018038 Sodium Selenite Sodium Selenite results in increased expression of NDUFS3 mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of NDUFS3 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of NDUFS3 mRNAincreases expression 20399798
D014212 Tretinoin [IFNB1 protein co-treated with Tretinoin] results in increased expression of NDUFS3 mRNAaffects cotreatment|increases expression 16826196
D014212 Tretinoin [IFNB1 protein co-treated with Tretinoin] results in increased expression of NDUFS3 proteinaffects cotreatment|increases expression 16826196
D014212 Tretinoin NDUFS3 protein results in increased susceptibility to [Tretinoin co-treated with IFNB1 protein]affects cotreatment|increases response to substance 16826196
D014810 Vitamin E Vitamin E results in increased expression of NDUFS3 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0411752688 15322242 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8414692618
MESH:D000236 Adenoma Diethylnitrosamine 2.9310737359 6695378
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 10.7117162532 16434500 17620307 19052882 18056438 19061943
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.7116835633
MESH:D000505 Alopecia Tretinoin 3.7315955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.4815885639
MESH:D001169 Arthritis, Experimental Tretinoin 7.4816412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.2916292516
MESH:D001249 Asthma Tretinoin 2.3816456186
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001471 Barrett Esophagus Tretinoin 4.5616935849
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.4112125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 9.4116206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.8317474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8320435547
MESH:D001943 Breast Neoplasms Tretinoin 1.8316873071 16443354 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.7816813970
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1116050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.3816168501
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.653084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 4.6516328049 19208518 18665156 18788625 20512989 19701751 20524982 16807293 19822196 20214788 20727157 16935385 18494052 16878318 19107877 19052882 18056438 18210153 20101231 3581430 19335982 17055752 16698587 3084413 11831363 18506893 16779866 17138121 17162532 18393292 19383236 19171122 17428255 10672840 20007298 17978847 16830150 19539802 20432363 20084675 21159647 19519916 10737359 17173139 18971187 17761372 16502159 16288022 18691550 16569478 20935162 19919837 19394651 18785209 18978308 20514400 16681979 16540662 19418558
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 4.651917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3216096774 16051514
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 7.4810977129
MESH:D002386 Cataract Tretinoin 7.4817460283
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.9212371664
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 6.9217174075 2727394 7505956 21159647
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.7816129372
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 9.7419052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.7416835633
MESH:D002779 Cholestasis Cyclosporine 8.1219486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.1216105132 15861022 11677210 17110522 16919318 17333356 17681005
MESH:D002822 Choriocarcinoma Tretinoin 5.3816461808
MESH:D019457 Chromosome Breakage Sodium Selenite 4.9315894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 5.9416354765 8697196 15340226 12621046 15668235
MESH:D002972 Cleft Palate Tretinoin 5.949407595
MESH:D003092 Colitis Selenium 10.0917936198
MESH:D003092 Colitis Tretinoin 10.0917035595
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.8415322242 20055451 10048152
MESH:D019465 Craniofacial Abnormalities Tretinoin 3.8417551590 9211117 10589399 8800419 16925845 9224671 9664655 14991402 9142499 9125849
MESH:D019465 Craniofacial Abnormalities Vitamin E 3.8419769572
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9016285004
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.3220387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.3217107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 15.792444490 16227642 19923254 17522070 15619225 15968718 12153990 12705907 16081117 14986274 16485898 12958197 17562736 12540782 12594235 11834606 19370779 11287661 18713872 11461765 16393943 14725611 19164858 19085960 10774834 19416960 10663392 16781746 16109766 10915739 12392966 18071297 19420014 19739265 11739529 17906064 11743745 11529661 14550746 16177239 11421492
MESH:D056486 Drug-Induced Liver Injury Chlorpromazine 15.7911461765
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 15.7919107877
MESH:D056486 Drug-Induced Liver Injury Selenium 15.7915131321
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 15.7915131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 15.7920420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:C538011 Eales disease Vitamin E 4.929068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 12.6815322242 18230668 16714409
MESH:D004489 Edema, Cardiac Tretinoin 12.6818230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3512538720
MESH:D016889 Endometrial Neoplasms Tretinoin 3.1916569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1510568697 9294722
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.3316302075
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.1811564622
MESH:D005124 Eye Abnormalities Tretinoin 9.1816938888 9664655
MESH:D005234 Fatty Liver Cyclosporine 13.8919224547
MESH:D005234 Fatty Liver Diethylnitrosamine 13.8921071580 20387270
MESH:D005234 Fatty Liver Ethinyl Estradiol 13.8915345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D005355 Fibrosis Cyclosporine 15.7812168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 15.7820067830
MESH:D005355 Fibrosis Tretinoin 15.7817994277
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.418708960
MESH:D005909 Glioblastoma Tretinoin 3.0917312396
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.2716096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.3816084493
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 11.5311294989 10048152
MESH:D006330 Heart Defects, Congenital Tretinoin 11.539664655 14991402
MESH:D006330 Heart Defects, Congenital Vitamin E 11.5316080930
MESH:D006333 Heart Failure Selenium 3.1517162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0716120746 12621046 15340226
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7416863852 16490937
MESH:D006561 Herpes Simplex Chlorpromazine 5.481682908
MESH:D019584 Hot Flashes Vitamin E 4.1914716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2616959395 18606429 16354765 15340226 8697196
MESH:D006930 Hyperalgesia Acetaminophen 8.0016870215
MESH:D006930 Hyperalgesia Tretinoin 8.0016870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.7416778211
MESH:D006973 Hypertension Cyclosporine 5.1010903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1018670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5717937319
MESH:D007249 Inflammation Diethylnitrosamine 5.1218785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1212200463 12878042
MESH:D007251 Influenza, Human Selenium 11.7016624496
MESH:D007251 Influenza, Human Vitamin E 11.7016624496
MESH:D007333 Insulin Resistance Sodium Selenite 3.3614714311
MESH:D007410 Intestinal Diseases Tretinoin 3.9417994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 10.4016580747
MESH:D007569 Jaw Abnormalities Tretinoin 10.4017551590 15992940
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6615604871
MESH:D007674 Kidney Diseases Acetaminophen 10.4515629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 10.4518776723 10903974 8314463
MESH:D007674 Kidney Diseases Vitamin E 10.4512488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0216518626
MESH:D007680 Kidney Neoplasms Cyclosporine 2.8512371664
MESH:D007888 Leigh Disease marker/mechanism
MESH:D007938 Leukemia Tretinoin 2.8317143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.8416482212 16932348 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1017596541 19850784 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.2417368321 17712046 17217047 16891316 16140955 12679006 17107899 19642359 17339181 16788101 16935935 17361223 17301526 19075265 16331271 17294898 15748426 17649720 16766008 9834237 19029980 17506722 19035177 16823087 19225113
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.419224671
MESH:D008064 Lipidoses Chlorpromazine 4.8515342952 17567588
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.8920032147 18407596 18665156 19638242 18522880
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5512878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 3.5518397230 16248980
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.5516169303
MESH:D008107 Liver Diseases Acetaminophen 6.8819460945 12587719 19784758 16611625 19014921 11587558 12969438 16610002
MESH:D008107 Liver Diseases Chlorpromazine 6.8814986274
MESH:D008107 Liver Diseases Diethylnitrosamine 6.8817034775
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3716871587 17185352
MESH:D008113 Liver Neoplasms Clofibric Acid 7.7417602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 7.7419254457 19073162 19499222 9163691 19638242 19256749 15175105 21167192 10737359 15885732 18648771 19090486 20452335 2862719 19812893 16942905 19426721 2422723 21278145 19294768 20405173 19850985 18754104 19833225 19690152 19427195 20492335 18978307 21047994 19996281 12112319 20501860 20101389 20583210 18644402 19551842 18977376 20118626 20137499 19642983 12771043 20434301 21071580 19255062
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7416984957
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.0419126423 19539802 2563599 17942915 19519916 18775883 18282651 19009564 19004024 3124819 16842330 18079962 18308698 18544905 17174075 16267830 18253720 18093689 21159647 17854601 9362446 18164116
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0412151625
MESH:D008171 Lung Diseases Vitamin E 3.2716863852
MESH:D008175 Lung Neoplasms Diethylnitrosamine 3.476695378 20970405 21163286 20512841
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4719555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 3.4711062179
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.2114737004
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.8515318939
MESH:D008527 Medulloblastoma Tretinoin 2.8317453147
MESH:D008545 Melanoma Tretinoin 1.9616752155
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D008591 Meningomyelocele Tretinoin 4.6016940565
MESH:D001523 Mental Disorders Chlorpromazine 4.9316856516
MESH:D008654 Mesothelioma Selenium 2.8415107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0116801185
MESH:D009175 Mycoplasma Infections Chlorpromazine 6.2210773494
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.1517596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.619029167 3581430
MESH:D009369 Neoplasms Tretinoin 2.4716594593 16946489
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4118481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.0614600291
MESH:D009421 Nervous System Malformations Tretinoin 10.069125849
MESH:D009436 Neural Tube Defects Tretinoin 3.149142499
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.5818514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.5820387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.3320387270
MESH:D010051 Ovarian Neoplasms Tretinoin 2.3816936753
MESH:D010146 Pain Acetaminophen 6.9816870215
MESH:D010146 Pain Tretinoin 6.9816870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 5.4016540662
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.4015976015
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D010954 Plasmacytoma Selenium 5.1115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011230 Precancerous Conditions Cyclosporine 9.3612371664
MESH:D011230 Precancerous Conditions Diethylnitrosamine 9.362563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3811118676 11896295 11399792 11222880
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3118760546
MESH:D011471 Prostatic Neoplasms Vitamin E 3.3115084515
MESH:D011507 Proteinuria Tretinoin 3.7516636307
MESH:D011537 Pruritus Ethinyl Estradiol 3.5115861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2716882103
MESH:D011625 Pterygium Tretinoin 4.9916723453
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.2516283617 16116481
MESH:D012871 Skin Diseases Vitamin E 2.4718709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7616192470
MESH:D012878 Skin Neoplasms Tretinoin 5.7616467112
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1616709447
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.4518456281
MESH:D013274 Stomach Neoplasms Tretinoin 2.4517261132
MESH:D020521 Stroke Vitamin E 3.6316517955
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.537505956
MESH:D013964 Thyroid Neoplasms Tretinoin 7.5317045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 3.9216051514
MESH:D014376 Tuberculosis Tretinoin 3.3116040207
MESH:D014581 Urticaria Acetaminophen 3.1210982225
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.8116129372
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4614692618
MESH:D014604 Uveal Neoplasms Tretinoin 4.8316752155
MESH:D014605 Uveitis Cyclosporine 4.201336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6814671159 15869587
MESH:D014820 Vitiligo Tretinoin 4.2216761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
MESH:D009396 Wilms Tumor Tretinoin 4.0916287080
MESH:D014985 Xerophthalmia Cyclosporine 4.6617120751
Pathway ID Pathway Name
KEGG:05010 Alzheimer's disease
KEGG:05016 Huntington's disease
KEGG:01100 Metabolic pathways
KEGG:00190 Oxidative phosphorylation
KEGG:05012 Parkinson's disease
REACT:6305 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA31520
  • No data
    No data
    Releated drug ID Related drug Name
    PA449412doxorubicin
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00157 - NADH Dietary supplement;Micronutrient
    No data
    No data
    No data

    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