AutismKB 2.0

Annotation Detail for SMC3


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Basic Information Top
Gene Symbol:SMC3 ( BAM,BMH,CDLS3,CSPG6,HCAP,SMC3L1 )
Gene Full Name: structural maintenance of chromosomes 3
Band: 10q25.2
Quick LinksEntrez ID:9126; OMIM: 606062; Uniprot ID:SMC3_HUMAN; ENSEMBL ID: ENSG00000108055; HGNC ID: 2468
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04110Cell cycle
hsa04114Oocyte meiosis
Pathway IDPathway Name
Cell Cycle, Mitotic
DNA Replication
No data
No data
Pathway IDPathway Name
500976Mitotic Prometaphase
500868Mitotic Metaphase/Anaphase Transition
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1705Retinitis pigmentosa
2001Mental retardation
2053Colon cancer
2115Muscular dystrophies
No data
No data
Desease Name
Cornelia de Lange syndrome 3
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SMC3 mRNAaffects expression 21346803
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SMC3 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of SMC3 mRNAincreases expression 20504355
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of SMC3 mRNAdecreases expression 20382639
20018196
D016572 Cyclosporine Cyclosporine results in decreased expression of SMC3 mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of SMC3 mRNAdecreases expression 15834898
D005419 Flavonoids Flavonoids results in increased expression of SMC3 mRNAincreases expression 18035473
C023036 perfluorooctanoic acid perfluorooctanoic acid results in decreased expression of SMC3 mRNAdecreases expression 16221955
C058305 phenethyl isothiocyanate phenethyl isothiocyanate results in decreased expression of SMC3 mRNAdecreases expression 17616710
D010758 Phosphorus Phosphorus results in increased expression of SMC3 mRNAincreases expression 17715259
D013654 Taurine Taurine results in increased expression of SMC3 mRNAincreases expression 16579726
C004648 testosterone enanthate testosterone enanthate affects the expression of SMC3 mRNAaffects expression 17440010
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SMC3 mRNAdecreases expression 18691609
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9611752688 14514962 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.6818287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.0817505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.2420464547 20127859
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.2414692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.706695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4916835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1819183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.5711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7115885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8115746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8917474063 20146248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8920435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8616835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 1.7716705839
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0720419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4118850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 11.466135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 11.4620889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.4612371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2316835633
MESH:D002779 Cholestasis Cyclosporine 7.9819486331
MESH:D002779 Cholestasis Ethinyl Estradiol 7.9817681005 16919318 17110522 11677210 16105132 17333356 15861022
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1316354765 15668235 8697196 15340226 12621046
MESH:D003093 Colitis, Ulcerative phenethyl isothiocyanate 3.6720423518
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1317141729 14669216
MESH:C536443 Cornelia de Lange syndrome 3 marker/mechanism
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1218551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D058065 Diabetic Cardiomyopathies Taurine 6.1716025228
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.5121346803 18551238
MESH:D056486 Drug-Induced Liver Injury Taurine 6.519328219
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8211462148
MESH:D004487 Edema perfluorooctanoic acid 7.2117259670 12083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.2111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0418230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.2812538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.109294722 10568697
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.4120426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4116530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver Cyclosporine 7.8519224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 7.8515345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005355 Fibrosis Cyclosporine 8.8312168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.8320067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.348708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.5820471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.5810048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5415720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006529 Hepatomegaly perfluorooctanoic acid 9.023609246
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.0212621046 15340226 16120746
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 5.8817440010
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1818606429 8697196 15340226 16959395 16354765
MESH:D006930 Hyperalgesia perfluorooctanoic acid 3.9212083418
MESH:D006973 Hypertension Cyclosporine 5.0410903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.0418850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9116569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5417937319
MESH:D007249 Inflammation Flavonoids 8.6417296493
MESH:D007249 Inflammation perfluorooctanoic acid 8.6412083418
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.6412200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5815604871
MESH:D007674 Kidney Diseases Cyclosporine 2.3818776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.5016705839
MESH:D007680 Kidney Neoplasms Cyclosporine 7.5012371664
MESH:D007984 Leydig Cell Tumor perfluorooctanoic acid 5.358812269
MESH:D008106 Liver Cirrhosis, Experimental Taurine 2.8615931870 15893842
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.8612878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 10.957678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 10.9520195826 21137059
MESH:D008113 Liver Neoplasms perfluorooctanoic acid 10.9518709148 14757943
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.9516984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 5.902876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.9012151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2020135361 20464547 6695378 18816296 18569708 17053015 20064080 18520028 20869020
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2019555203 11884234
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9216801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2516381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 3.987678174 18551238
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2011141357
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3619348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3114600291
MESH:D052556 Niemann-Pick Disease, Type C perfluorooctanoic acid 5.069802331
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5116049721
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.7711578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.2912371664
MESH:D011297 Prenatal Exposure Delayed Effects perfluorooctanoic acid 10.0717132714
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.0711118676 11896295 11399792 11222880
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9617292933
MESH:D011537 Pruritus Ethinyl Estradiol 3.4315861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2516882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012640 Seizures 2,6-dinitrotoluene 2.5918551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.5919755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.5916192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.0816709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013733 Testicular Diseases phenethyl isothiocyanate 5.0615864552
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7111994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.0716049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.0717053015
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.4310091137
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.3914692618
MESH:D014605 Uveitis Cyclosporine 4.121336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6214671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
MESH:D014985 Xerophthalmia Cyclosporine 4.5817120751
Pathway ID Pathway Name
KEGG:04110 Cell cycle
REACT:152 Cell Cycle, Mitotic
REACT:383 DNA Replication
KEGG:04114 Oocyte meiosis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA26966
    • No data
    Releated disease ID Related disease Name
    PA443890Diabetes Mellitus, Type 2
    PA443560Breast Neoplasms
    No data
    Drug Bank Top

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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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