AutismKB 2.0

Annotation Detail for MACROD2


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Basic Information Top
Gene Symbol:MACROD2 ( C20orf133 )
Gene Full Name: MACRO domain containing 2
Band: 20p12.1
Quick LinksEntrez ID:140733; OMIM: 611567; Uniprot ID:MACD2_HUMAN; ENSEMBL ID: ENSG00000172264; HGNC ID: 16126
Relate to Another Database: SFARIGene; denovo-db
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of MACROD2 proteinaffects expression 20106945
D000638 Amiodarone Amiodarone results in increased expression of MACROD2 mRNAincreases expression 19774075
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of MACROD2 mRNAdecreases expression 20106945
D016572 Cyclosporine Cyclosporine results in decreased expression of MACROD2 mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0620464547 20127859
MESH:D000236 Adenoma Benzo(a)pyrene 2.866695378
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.6419183758
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.2018057881 20041841 18218290
MESH:D001281 Atrial Fibrillation Amiodarone 4.2018651412 19698954
MESH:D001321 Autistic Disorder marker/mechanism 20663923
MESH:D001778 Blood Coagulation Disorders Amiodarone 4.3219483382
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9920146248 17474063
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 1.9912619106 21507988 12907637
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 3.0019225199 15710769
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.7218974383
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7912371664
MESH:D002779 Cholestasis Cyclosporine 3.2119486331
MESH:D056486 Drug-Induced Liver Injury Amiodarone 2.4718218290 15265979
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0816530937
MESH:D005234 Fatty Liver Amiodarone 9.2814986274
MESH:D005234 Fatty Liver Cyclosporine 9.2819224547
MESH:D005355 Fibrosis Cyclosporine 3.7012639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.858708960
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8320471113
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.0515720958
MESH:D006529 Hepatomegaly Amiodarone 4.3115265979
MESH:D006937 Hypercholesterolemia Amiodarone 4.308137927 9751232
MESH:D006973 Hypertension Cyclosporine 2.2110903974
MESH:D007037 Hypothyroidism Amiodarone 5.0817991464 18020914
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.1615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5418776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0812371664
MESH:D008064 Lipidoses Amiodarone 3.7917567588 15342952
MESH:D008113 Liver Neoplasms Aflatoxin B1 4.9718177683 2125692 15890375 9163691
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.9721137059 20195826
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 2.968603461
MESH:D008133 Long QT Syndrome Amiodarone 3.8917391786 15350150 11989578
MESH:D008171 Lung Diseases Amiodarone 3.6212587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.2018516814
MESH:D008175 Lung Neoplasms Aflatoxin B1 2.5014755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.5018569708 20064080 18816296 17053015 20135361 20869020 20464547 6695378 18520028
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.5116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5016381670
MESH:D009181 Mycoses Amiodarone 5.6212754197 17974566
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3311141357
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.1617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6519348381 18481113
MESH:D011230 Precancerous Conditions Cyclosporine 3.5912371664
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9117292933
MESH:D011565 Psoriasis Cyclosporine 2.3316882103
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9712490602 11597910 12832656
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.7218724381
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5219755658 10029692
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013276 Stomach Ulcer Amiodarone 3.7418087811
MESH:D013610 Tachycardia Amiodarone 4.8011238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.7019225199
MESH:D013959 Thyroid Diseases Amiodarone 5.4819731979
MESH:D013971 Thyrotoxicosis Amiodarone 5.4218020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.8217467628 11989578
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3017053015
MESH:D014605 Uveitis Cyclosporine 4.711336536
MESH:D014985 Xerophthalmia Cyclosporine 5.1617120751
No data
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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