AutismKB 2.0

Annotation Detail for SMCHD1


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Basic Information Top
Gene Symbol:SMCHD1 ( DKFZp686O0631,KIAA0650 )
Gene Full Name: structural maintenance of chromosomes flexible hinge domain containing 1
Band: 18p11.32
Quick LinksEntrez ID:23347; OMIM: NA; Uniprot ID:SMHD1_HUMAN; ENSEMBL ID: ENSG00000101596; HGNC ID: 29090
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C006632 arsenic trioxide arsenic trioxide results in increased expression of SMCHD1 mRNAincreases expression 20458559
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 SMCHD1 mRNAdecreases expression 19150397
D003010 Clorgyline Clorgyline results in increased expression of SMCHD1 mRNAincreases expression 19691856
D005472 Fluorouracil Fluorouracil results in increased expression of SMCHD1 mRNAincreases expression 16510598
C051890 irinotecan irinotecan analog results in decreased expression of SMCHD1 mRNAdecreases expression 18927307
D012643 Selenium Selenium results in decreased expression of SMCHD1 mRNAdecreases expression 19244175
D014810 Vitamin E Vitamin E results in decreased expression of SMCHD1 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma arsenic trioxide 4.7119825857 11798837
MESH:D000230 Adenocarcinoma Fluorouracil 4.7117638652
MESH:D000740 Anemia Fluorouracil 3.9817963324 16511603 15504547
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 3.9516206674
MESH:D001943 Breast Neoplasms Fluorouracil 2.4415136595 18608205 19217205 16595493 18357371 16110121 16557594
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.6311589617
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.2916050911
MESH:D002276 Carcinoid Tumor Fluorouracil 5.1116051944
MESH:D002277 Carcinoma Fluorouracil 3.7917121937
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 3.2616217749 15073043 14691202 11135700 15553829
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 3.2618930000 16332177 17971768 17045692 17088986 16799960
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.3219014326
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.1318695887
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.3812490120
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5516280240 16757204 18986760 17066447
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.9020889678
MESH:D003092 Colitis Selenium 4.1417936198
MESH:D003110 Colonic Neoplasms Fluorouracil 4.1018772588 16340194 17169374 16510598 17018589 17016597 17725105 17172411 15001691 17287894
MESH:D003110 Colonic Neoplasms irinotecan 4.1017725105 17287894
MESH:D015179 Colorectal Neoplasms arsenic trioxide 3.6220501625
MESH:D015179 Colorectal Neoplasms Fluorouracil 3.6217401013 18448328 18383874 17016601 14970324 17094418 17454858 20501625 15148649 17255274 16331619 18288408 17695437 18949393 16303861 16391804 18802399 17594712 18509181 16282729 15289873 16524972
MESH:D015179 Colorectal Neoplasms irinotecan 3.6218259882 18509181 17159606 17454858 16391804 16303861 15273666
MESH:D023903 Coronary Restenosis arsenic trioxide 4.5112609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.7810525206
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.7819769572
MESH:D007644 Darier Disease Fluorouracil 5.1916733453
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.4015213294
MESH:D056486 Drug-Induced Liver Injury Selenium 2.2315131321
MESH:C538011 Eales disease Vitamin E 5.159068938
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.6220426865
MESH:D004938 Esophageal Neoplasms arsenic trioxide 7.6212903497
MESH:D004938 Esophageal Neoplasms Fluorouracil 7.6217638652 16481741 16785472 16337965 15173087
MESH:D005234 Fatty Liver arsenic trioxide 3.5715073043
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.5916904648
MESH:D005910 Glioma Fluorouracil 2.9616145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5615162350 18337622 15102660
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1216080930
MESH:D006333 Heart Failure Selenium 3.2317162251
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7816863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.4114716179
MESH:D007251 Influenza, Human Selenium 12.4816624496
MESH:D007251 Influenza, Human Vitamin E 12.4816624496
MESH:D007674 Kidney Diseases Vitamin E 2.9512488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.1716518626
MESH:D007680 Kidney Neoplasms Fluorouracil 3.5416985049
MESH:D007938 Leukemia arsenic trioxide 2.9515070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.0812560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.7016972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.6314633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.0419077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1720471514 19850784 16467208 16968895 17050201
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3816112521 19075265 16330433 12712474 12018890 17649720 19035177 17869043 15336539 12679006 11468182 17107899 15748426 9834237 17217047 11161223 16331271 17712046 19225113 15213294 16966277 19642359 15622746 16891316 16823087
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.6816882451
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 1.9016169303
MESH:D008113 Liver Neoplasms arsenic trioxide 5.0114682389
MESH:D008113 Liver Neoplasms Fluorouracil 5.0115113037 18383874 17045692 16603448
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 2.8920377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.5615213294
MESH:D008171 Lung Diseases Vitamin E 3.3516863852
MESH:D008175 Lung Neoplasms arsenic trioxide 3.6511798837 19825857
MESH:D008175 Lung Neoplasms Fluorouracil 3.6515246190
MESH:D008175 Lung Neoplasms Vitamin E 3.6511062179
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.1915086387
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9215318939
MESH:D008654 Mesothelioma Selenium 2.8815107826
MESH:D009062 Mouth Neoplasms Fluorouracil 3.8416757204 18986760
MESH:D052016 Mucositis irinotecan 5.4017159606
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2919549372 14977855 11468182 19417148 15949261
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.1218349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2816882451 16105982
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.2916624393
MESH:D009362 Neoplasm Metastasis irinotecan 3.2618259882
MESH:D009369 Neoplasms Fluorouracil 2.7218600527 16928823 18239605
MESH:D009436 Neural Tube Defects arsenic trioxide 3.2810525206
MESH:D009447 Neuroblastoma irinotecan 3.608761367
MESH:D017599 Neuroectodermal Tumors irinotecan 5.128761367
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.6116436463
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4716624393 12452020 19769630
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 5.6415580305
MESH:D010190 Pancreatic Neoplasms Fluorouracil 5.6416500647 19003803 16929163 15113037
MESH:D010235 Paraganglioma arsenic trioxide 4.4719927285
MESH:D010954 Plasmacytoma Selenium 5.3315087411
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.1119131511
MESH:D011471 Prostatic Neoplasms Clorgyline 2.1119691856
MESH:D011471 Prostatic Neoplasms Fluorouracil 2.1119082440 18626508
MESH:D011471 Prostatic Neoplasms Vitamin E 2.1115084515
MESH:D012004 Rectal Neoplasms Fluorouracil 4.2618722050 18286688 15538739 16160472
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.2916646077
MESH:D012871 Skin Diseases Vitamin E 2.5018709164
MESH:D013274 Stomach Neoplasms arsenic trioxide 3.5917007042
MESH:D013274 Stomach Neoplasms Fluorouracil 3.5917172411 16424979 19015929 17522103 18396642 19084572 15786421 18567086 16951190 17498489
MESH:D013274 Stomach Neoplasms irinotecan 3.5915723263
MESH:D020521 Stroke Vitamin E 3.7416517955
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.2919014326
MESH:D014062 Tongue Neoplasms Fluorouracil 4.2516280240
MESH:D016171 Torsades de Pointes arsenic trioxide 4.3615213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 2.5712845720 12973940 11780464 20435036
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.1416803524
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA128395776
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA450379mercaptopurine
    PA450428methotrexate
    Drug Bank Top

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    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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