AutismKB 2.0

Annotation Detail for FANCA


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Basic Information Top
Gene Symbol:FANCA ( FA,FA-H,FA1,FAA,FACA,FAH,FANCH,MGC75158 )
Gene Full Name: Fanconi anemia, complementation group A
Band: 16q24.3
Quick LinksEntrez ID:2175; OMIM: 607139; Uniprot ID:FANCA_HUMAN; ENSEMBL ID: ENSG00000187741; HGNC ID: 3582
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
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Hematologic diseases
H00238Fanconi anemia
Desease IDDesease Name
1720Fanconi's anemia
1859Ovarian cancer
1944Breast cancer
2051Leukemia
2106Pancreas cancer
Desease Name
CANCER
cervical intraepithelial neoplasia grade 3
No data
Desease Name
Fanconi anemia, complementation group A
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of FANCA mRNAaffects expression 17562736
D000638 Amiodarone Amiodarone results in increased expression of FANCA mRNAincreases expression 19774075
C006632 arsenic trioxide arsenic trioxide results in increased expression of FANCA mRNAincreases expression 20458559
C015001 arsenite arsenite results in decreased expression of FANCA mRNAdecreases expression 18929588
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of FANCA mRNAaffects cotreatment|increases expression 17942748
C006253 pirinixic acid NCF1 protein promotes the reaction [pirinixic acid results in decreased expression of FANCA mRNA]decreases expression|increases reaction 17950772
C006253 pirinixic acid pirinixic acid results in decreased expression of FANCA mRNAdecreases expression 17950772
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in decreased expression of FANCA mRNA]decreases expression|increases reaction 17950772
D012402 Rotenone Rotenone results in increased expression of FANCA mRNAincreases expression 18191903
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of FANCA mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1815322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3818653653
MESH:D000230 Adenocarcinoma arsenic trioxide 4.4619825857 11798837
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.4614692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.0516434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.0516835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.0318218290 20041841 18057881
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001281 Atrial Fibrillation Amiodarone 4.0818651412 19698954
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Amiodarone 24.0819483382
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 24.0816206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 24.0819483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 24.0812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6820435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5911589617
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D003528 Carcinoma, Adenoid Cystic marker/mechanism 16762588
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.983084413
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 2.9815553829 14691202 11135700 16217749 15073043
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.2519014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.3512490120
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918670907 18850075 16120746
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9615710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.4218974383
MESH:D002386 Cataract Acetaminophen 2.7110977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.3316919318 17681005 15861022 16105132 11677210 17110522 17333356
MESH:D002779 Cholestasis pirinixic acid 8.3319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.198697196 12621046 15340226 15668235 16354765
MESH:D003110 Colonic Neoplasms arsenite 2.6215037631
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2717141729 14669216
MESH:D023903 Coronary Restenosis arsenic trioxide 4.4712609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.5310525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5310048152 15322242 20055451
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.3615213294
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.5319416960 19923254 17906064 11743745 16177239 11834606 11461765 12153990 19085960 11739529 15968718 19420014 14725611 17562736 19739265 16485898 12958197 15619225 11421492 2444490 16081117 12594235 16781746 16227642 17522070 19164858 16109766 14986274 10915739 14550746 11287661 10774834 18071297 12392966 12705907 12540782 18713872 10663392 19370779 16393943 11529661
MESH:D056486 Drug-Induced Liver Injury Amiodarone 6.5315265979 18218290
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5320420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004487 Edema pirinixic acid 7.3512083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.3511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2818230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3612903497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005199 Fanconi Anemia marker/mechanism
MESH:D005234 Fatty Liver Amiodarone 27.4714986274
MESH:D005234 Fatty Liver arsenic trioxide 27.4715073043
MESH:D005234 Fatty Liver arsenite 27.4718296743
MESH:D005234 Fatty Liver Ethinyl Estradiol 27.4715345470
MESH:D005234 Fatty Liver pirinixic acid 27.4720131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis arsenite 9.8618296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.8620067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.5416904648
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4410048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6720558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Amiodarone 16.2915265979
MESH:D006529 Hepatomegaly pirinixic acid 16.2918467677 16221962 19176532 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 16.2915340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.428697196 16959395 15340226 18606429 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D006937 Hypercholesterolemia Amiodarone 4.128137927 9751232
MESH:D006943 Hyperglycemia pirinixic acid 3.4120558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216569931 16945680
MESH:D007037 Hypothyroidism Amiodarone 4.8218020914 17991464
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9612200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7816306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3215629191 12587719
MESH:D007938 Leukemia arsenic trioxide 2.9315070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 4.0412560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.6416972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.6014633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 4.0019077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1716467208 20471514 16968895 19850784 17050201
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3619075265 19035177 16823087 16330433 17107899 12679006 16112521 16966277 11468182 17217047 16891316 19225113 15213294 12018890 17712046 19642359 9834237 16331271 12712474 15336539 17869043 11161223 17649720 15748426 15622746
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.6316882451
MESH:D008064 Lipidoses Amiodarone 3.6817567588 15342952
MESH:D008103 Liver Cirrhosis arsenite 3.5418296743
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1912878042
MESH:D008107 Liver Diseases Acetaminophen 1.6719784758 16610002 19014921 16611625 19460945 11587558 12969438 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4617185352 16871587
MESH:D008113 Liver Neoplasms arsenic trioxide 7.8114682389
MESH:D008113 Liver Neoplasms pirinixic acid 7.8115890375 16377806 20007298
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.8116984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.2720377131
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2712151625
MESH:D008133 Long QT Syndrome Amiodarone 8.8117391786 15350150 11989578
MESH:D008133 Long QT Syndrome arsenic trioxide 8.8115213294
MESH:D008171 Lung Diseases Amiodarone 3.5312587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.8518516814
MESH:D008175 Lung Neoplasms arsenic trioxide 3.5919825857 11798837
MESH:D008175 Lung Neoplasms arsenite 3.5916809336
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5919555203 11884234
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2719417148 11468182 19549372 15949261 14977855
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
MESH:D009181 Mycoses Amiodarone 5.2817974566 12754197
MESH:D009182 Mycosis Fungoides arsenic trioxide 5.0518349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.2616105982 16882451
MESH:D009203 Myocardial Infarction pirinixic acid 2.2219151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1316411023
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.2416624393
MESH:D009369 Neoplasms pirinixic acid 2.0517405874
MESH:D009389 Neovascularization, Pathologic arsenite 4.7515738583
MESH:D009410 Nerve Degeneration Rotenone 4.0618619942 17356569 15790535
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D009436 Neural Tube Defects arsenic trioxide 3.2610525206
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0718514411
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4716624393 19769630 12452020
MESH:D010146 Pain Acetaminophen 2.5916870215
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5915580305
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010235 Paraganglioma arsenic trioxide 4.4219927285
MESH:D010300 Parkinson Disease Rotenone 3.0511445065 18619942 15451049 19232380 16412576 16140633 11535288 18191903 19114014
MESH:D020734 Parkinsonian Disorders Rotenone 4.3018197244 15795934 15574749 15927086
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311896295 11399792 11222880 11118676
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.2319131511
MESH:D011537 Pruritus Ethinyl Estradiol 3.6515861022 16919318
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9312490602 11597910 12832656
MESH:D015427 Reperfusion Injury pirinixic acid 2.4919058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012468 Salivary Gland Neoplasms marker/mechanism 16762588
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.2416646077
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.4218724381
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3216709447
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D013276 Stomach Ulcer Amiodarone 3.5518087811
MESH:D013610 Tachycardia Amiodarone 4.5711238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.4719225199
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Amiodarone 13.3419731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 13.3412697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.2719014326
MESH:D013971 Thyrotoxicosis Amiodarone 5.1719584973 18020914
MESH:D016171 Torsades de Pointes Amiodarone 11.4111989578 17467628
MESH:D016171 Torsades de Pointes arsenic trioxide 11.4115213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 2.5612973940 20435036 12845720 11780464
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7815869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
Pathway ID Pathway Name
REACT:216 DNA Repair
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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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