AutismKB 2.0

Annotation Detail for FANCD2


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Basic Information Top
Gene Symbol:FANCD2 ( DKFZp762A223,FA-D2,FA4,FACD,FAD,FAD2,FANCD,FLJ23826 )
Gene Full Name: Fanconi anemia, complementation group D2
Band: 3p25.3
Quick LinksEntrez ID:2177; OMIM: 227646; Uniprot ID:FACD2_HUMAN; ENSEMBL ID: ENSG00000144554; HGNC ID: 3585
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
DNA Repair
Pathway IDPathway Name
200174BARD1 signaling events
No data
Pathway IDPathway Name
500069Regulation of the Fanconi anemia pathway
500068Fanconi Anemia pathway
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Hematologic diseases
H00238Fanconi anemia
Desease IDDesease Name
1720Fanconi's anemia
1832Congenital abnormality
1944Breast cancer
2051Leukemia
No data
No data
Desease Name
Fanconi anemia, complementation group D2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000079 Acetaldehyde FANCD2 gene mutant form results in increased susceptibility to Acetaldehydeincreases response to substance 18056434
D000079 Acetaldehyde Acetaldehyde results in increased expression of FANCD2 proteinincreases expression 18482162
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of FANCD2 mRNAdecreases expression 20064835
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 FANCD2 mRNAdecreases expression 20382639
C074702 chromium hexavalent ion chromium hexavalent ion results in increased ubiquitination of and results in increased activity of FANCD2 proteinincreases activity|increases ubiquitination 16893675
D000431 Ethanol Ethanol results in increased expression of FANCD2 mRNAincreases expression 18482162
D000431 Ethanol Ethanol results in increased expression of FANCD2 proteinincreases expression 18482162
D000431 Ethanol Ethanol results in increased expression of FANCD2 mRNAincreases expression 18482162
D000431 Ethanol Ethanol results in increased expression of FANCD2 proteinincreases expression 18482162
D005557 Formaldehyde FANCD2 gene mutant form results in increased susceptibility to Formaldehydeincreases response to substance 18056434
D012402 Rotenone Rotenone results in increased expression of FANCD2 mRNAincreases expression 18191903
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of FANCD2 mRNAincreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Ethanol 9.6218926900 17676605
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.6215322242 11752688 14514962
MESH:D000138 Acidosis Ethanol 4.8311192467
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0320127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.786695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 5.7015451039 15451040
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000853 Anophthalmos Ethanol 5.1315513904
MESH:D001008 Anxiety Disorders Ethanol 4.2011141031
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3819183758
MESH:D001249 Asthma Acetaldehyde 3.729600491
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0420146248 17474063
MESH:D001943 Breast Neoplasms Formaldehyde 2.0415986119
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0420435547
MESH:D002056 Burns Ethanol 4.9616374292
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular Ethanol 2.4115289165 15763234 18788625
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1020419170
MESH:D006332 Cardiomegaly Ethanol 7.2519332462
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.2516120746 18670907 18850075
MESH:D002310 Cardiomyopathy, Alcoholic Acetaldehyde 6.8610525098
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.8820889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D016770 Ciliophora Infections Formaldehyde 6.0212113305
MESH:D002971 Cleft Lip Ethanol 3.6915513904
MESH:D002972 Cleft Palate Ethanol 6.2415513904
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.2412621046 15340226 15668235 8697196 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2717141729 14669216
MESH:D019465 Craniofacial Abnormalities Ethanol 2.6911198716 15451040 11873399 15513904 10194807 15451039 19302082
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.6910048152 20055451 15322242
MESH:D017449 Dermatitis, Allergic Contact Formaldehyde 5.0115059100 14996049 15932584 16958921 12081698
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury Ethanol 4.1311566570
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.1320420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2816714409 18230668 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.5820426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.5816530937
MESH:D004938 Esophageal Neoplasms Ethanol 7.5816704527
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005141 Eyelid Diseases Formaldehyde 6.7514996049
MESH:D005199 Fanconi Anemia marker/mechanism 14667412
MESH:D005234 Fatty Liver Ethanol 3.9716409862 18620774 19236843
MESH:D005235 Fatty Liver, Alcoholic Ethanol 6.0417920746
MESH:D005310 Fetal Alcohol Syndrome Ethanol 5.6416946407 15451040 10194807 15513904
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2520067830
MESH:D005393 Fish Diseases Formaldehyde 5.9812113305
MESH:D005756 Gastritis Ethanol 5.0715046732
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.8220471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8211294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2012621046 16120746 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4216354765 16959395 18606429 15340226 8697196
MESH:D006930 Hyperalgesia Ethanol 3.9118783367
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9612878042 12200463
MESH:D007569 Jaw Abnormalities Ethanol 10.9415513904
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 10.9416580747
MESH:D007859 Learning Disorders Ethanol 4.5215451040
MESH:D017880 Limb Deformities, Congenital Ethanol 3.9817676605
MESH:D008103 Liver Cirrhosis Ethanol 3.4915289165
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.4318295389
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 2.5518166357
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.5512878042
MESH:D008108 Liver Diseases, Alcoholic Ethanol 4.9617207112 17347304
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.5920195826 21137059
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.5916984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2412151625
MESH:D008171 Lung Diseases chromium hexavalent ion 4.7716775837
MESH:D008175 Lung Neoplasms Acetaldehyde 5.1517372256
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 5.156695378 18816296 20064080 20464547 20869020 18569708 18520028 20135361 17053015
MESH:D008175 Lung Neoplasms chromium hexavalent ion 5.1516876463 16570259
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 5.1511884234 19555203
MESH:D008569 Memory Disorders Ethanol 4.4715451040 18411066
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3716381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2711141357
MESH:D009410 Nerve Degeneration Rotenone 4.0617356569 15790535 18619942
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D009669 Nose Neoplasms chromium hexavalent ion 11.4016876463
MESH:D009669 Nose Neoplasms Formaldehyde 11.404038687
MESH:D010190 Pancreatic Neoplasms Ethanol 3.0412384795
MESH:D010300 Parkinson Disease Rotenone 3.0519114014 15451049 11445065 16140633 11535288 16412576 19232380 18619942 18191903
MESH:D020734 Parkinsonian Disorders Rotenone 4.3015795934 18197244 15927086 15574749
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311118676 11222880 11399792 11896295
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9317292933
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012220 Rhinitis Acetaldehyde 4.9717050345
MESH:D012595 Scleroderma, Systemic Formaldehyde 6.1314979077
MESH:D012640 Seizures Ethanol 3.329754883
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.8019755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8016192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.582093021 20155912
MESH:D013274 Stomach Neoplasms Ethanol 2.5818456281
MESH:D013276 Stomach Ulcer Ethanol 3.779211565 17189318 17918041 9562338 11906479 16755016
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.489754883
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2517053015
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
Pathway ID Pathway Name
REACT:216 DNA Repair
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27999
    • No data
    Releated disease ID Related disease Name
    PA444146Fanconi Anemia
    No data
    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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