AutismKB 2.0

Annotation Detail for MDC1


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Basic Information Top
Gene Symbol:MDC1 ( DKFZp781A0122,KIAA0170,MGC166888,NFBD1 )
Gene Full Name: mediator of DNA-damage checkpoint 1
Band: 6p21.33
Quick LinksEntrez ID:9656; OMIM: 607593; Uniprot ID:MDC1_HUMAN; ENSEMBL ID: ENSG00000137337; HGNC ID: 21163
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
DNA Repair
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Pathway IDPathway Name
500044Recruitment of repair and signaling proteins to double-strand breaks
500043ATM mediated phosphorylation of repair proteins
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1887Carcinoma
1979Testicular dysfunction
2229Germ cell tumor
No data
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No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of MDC1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of MDC1 mRNAaffects expression 21346803
D016572 Cyclosporine Cyclosporine results in increased expression of MDC1 mRNAincreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of MDC1 mRNAaffects binding|increases activity|increases expression 19710929
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of MDC1 mRNAincreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3814514962 15322242 11752688
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.7716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.7716835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.0419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.0412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.0916705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.0916705839
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418670907 16120746 18850075
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.366135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.3612371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002779 Cholestasis Cyclosporine 8.6319486331
MESH:D002779 Cholestasis pirinixic acid 8.6319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2216354765 15668235 12621046 8697196 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 10048152 20055451
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.5618551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.5618551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.6721346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.6721346803 18551238
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.6720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema pirinixic acid 7.7912083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.7911000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5116714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.379294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Cyclosporine 8.8219224547
MESH:D005234 Fatty Liver pirinixic acid 8.8219236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Cyclosporine 10.1412168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.1420067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4910048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly pirinixic acid 9.9219176532 18467677 19772884 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.9216120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6615340226 16959395 8697196 16354765 18606429
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006973 Hypertension Cyclosporine 5.3110903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3118850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Cyclosporine 2.528314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 14.2016705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 14.2016705839
MESH:D007680 Kidney Neoplasms Cyclosporine 14.2012371664
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2215474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2212878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.987678174
MESH:D008113 Liver Neoplasms pirinixic acid 7.9816377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9816984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.422876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4212151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 12.2118551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 12.217678174 18551238
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6119348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 10.0616049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 10.0616049721
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311399792 11896295 11118676 11222880
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012640 Seizures 2,4-dinitrotoluene 6.6518551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.6518551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1816192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.3916049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.3916049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 13.8610091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 13.8610091137
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
Pathway ID Pathway Name
REACT:216 DNA Repair
Pharmacogenomics Knowledge Base Top
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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