AutismKB 2.0

Annotation Detail for FGD4


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Basic Information Top
Gene Symbol:FGD4 ( CMT4H,DKFZp313E1818,DKFZp434K1572,FLJ34370,FLJ42663,FRABP,MGC57222,ZFYVE6 )
Gene Full Name: FYVE, RhoGEF and PH domain containing 4
Band: 12p11.21
Quick LinksEntrez ID:121512; OMIM: 611104; Uniprot ID:FGD4_HUMAN; ENSEMBL ID: ENSG00000139132; HGNC ID: 19125
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Signaling by GPCR
Signalling by NGF
Signaling by Rho GTPases
No data
No data
No data
Related Diseases/Disorders Top
No data
No data
No data
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Desease Name
Charcot-Marie-Tooth disease, type 4H
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of FGD4 mRNAincreases expression 18648102
D000638 Amiodarone Amiodarone results in increased expression of FGD4 mRNAincreases expression 19774075
D000643 Ammonium Chloride Ammonium Chloride affects the expression of FGD4 mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of FGD4 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 FGD4 mRNAdecreases expression 19150397
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 increased expression of FGD4 mRNAincreases expression 20382639
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of FGD4 mRNAaffects expression 12734012
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of FGD4 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of FGD4 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of FGD4 mRNAaffects cotreatment|increases expression 17942748
D013629 Tamoxifen Tamoxifen affects the expression of FGD4 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of FGD4 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of FGD4 mRNAincreases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.8714745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1315322242 11752688 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3220127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3214692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 6.963712494
MESH:D000236 Adenoma Benzo(a)pyrene 6.966695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3319183758
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.9918057881 18218290 20041841
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001281 Atrial Fibrillation Amiodarone 4.0518651412 19698954
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.341440618 11289319
MESH:D001778 Blood Coagulation Disorders Amiodarone 9.7419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.7412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.7920146248 17474063
MESH:D001943 Breast Neoplasms Tamoxifen 1.7920005174 19011961 17440819 20135344 19066611 19221464 19189210 15668708 18984771 18815881 21152245 19115204 19487384 19142967 17261762 19084267 20859285 17893378 19189212 11161223 17049068 18855134 16818667 18629630 20065188 16202921 19410462 20544844 19289846 15565566 16273361 18425577 19200415 19155303 20390343 18351453 16873071 19059307 19244106 19103187 21138602 19288272 18821012 17242785 18997820
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.7920435547
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.0415700767 16227642 16097048 15721981 3786805 15673190 10355542 16011737 16124888 18705752 16192424 16050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.7619066611
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.733581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.7318788625
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.7316924424
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.767296757
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1020419170
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8117572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718850075 18670907 16120746
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9515710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.3718974383
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.107505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.1020889678
OMIM:609311 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H marker/mechanism
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.3619486331 9022650
MESH:D002779 Cholestasis Ethinyl Estradiol 8.3617110522 16105132 16919318 17681005 11677210 15861022 17333356
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1815340226 16354765 12621046 15668235 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6219031437
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.0618759878 8970840 8156756 11906362 12868966 11298694 2524372 14531868
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.713621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6619279558
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 9.439328219 9653073 18692083 7440962 18289764 16192314 11289319 6679447 6482804 1440618 9022650 8291058 18648102
MESH:D056486 Drug-Induced Liver Injury Amiodarone 9.4315265979 18218290
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 9.437440962 15027814 16177239 3786805 2869522 9327722 19085960 15998439 15968718 11566570 4309450 6884620 21278145 6623471 17522070 16227642 10915739 7120509 7179309 3732212 19336974 10092053
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.4320420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2216714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.7512538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.7519031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1717893378 20544844 19155303 16202921
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2110568697 9294722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 7.453581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4520426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.4516530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Amiodarone 20.5714986274
MESH:D005234 Fatty Liver Carbon Tetrachloride 20.5717595544 12631006 61145 15959796 16045604 12795759 19224547 16239168
MESH:D005234 Fatty Liver Ethinyl Estradiol 20.5715345470
MESH:D005234 Fatty Liver Tamoxifen 20.5714986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3516709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.346705139
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8114745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.4719069698
MESH:D005355 Fibrosis Carbon Tetrachloride 9.4718705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.4720067830
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.267505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.7720471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.7710048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 10.036705139
MESH:D006505 Hepatitis Carbon Tetrachloride 10.0319900420 19110552
MESH:D006529 Hepatomegaly Amiodarone 9.4115265979
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.4112621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.368697196 16354765 15340226 18606429 16959395
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.8216899240
MESH:D006937 Hypercholesterolemia Amiodarone 4.089751232 8137927
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2015034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9718670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3515338365
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716945680 16569931
MESH:D007037 Hypothyroidism Amiodarone 4.7717991464 18020914
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6217937319
MESH:D007249 Inflammation Tamoxifen 5.2119457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2112878042 12200463
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.348074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.966582329
MESH:D007680 Kidney Neoplasms Tamoxifen 7.9618625569
MESH:D008064 Lipidoses Amiodarone 8.4017567588 15342952
MESH:D008064 Lipidoses Tamoxifen 8.4015342952 17567588
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9116943688 17157831 11408273 16239168 11903743 16221502 17174718 17334410 21278145
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3115034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.5516097048 16638106 12958196 17708605 15876570 17698563 13678700 15730626 18205269 15370692 16033810 17557913 12632512 16136751 17721639 14716496 15052691 12632514 10355542 15123356 16192424 14620537 18279442 15673190 16116963 17823541 15959796 18472332 18263696 17714472 18317297 18376398 15893842 12649538 16027843 18187930 16011737 17922224 17631135 18251166 15996030 17869086 12586293 15931870 12741479 12546737 18156304 15925388 15650968 12898905 17976157 15338365 17565644 15362042 18429990 18006644 18418968 18277467 12667390 14512876 17525996 18472094 17900296 15818738 17640975 18412020 12445421 14748882 17944888 17805973 20821823 17761835 16015684 18339082 18420326 18210741 18395095 17481882 18166357 12389079 12445418 17766677 18481824 12666154 14716833 16248980 11481614 18395914 15057751 12609069 14724832 18054572 18705752
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.5518564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5512878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1215720792 16246199 15830285 16964402 17285989
MESH:D017093 Liver Failure Carbon Tetrachloride 4.4215123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.8814706259 16899240
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.2521137059 20195826
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 11.2519294768
MESH:D008113 Liver Neoplasms Tamoxifen 11.2516684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.2516984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.49598648 6587162 3712494 1399818
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 10.4912014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.4912151625
MESH:D008133 Long QT Syndrome Amiodarone 3.7311989578 15350150 17391786
MESH:D008171 Lung Diseases Amiodarone 3.5012587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.8018516814
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.4518816296 18520028 18569708 17053015 20464547 20869020 20135361 6695378 20064080
MESH:D008175 Lung Neoplasms Tamoxifen 3.4518625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4519555203 11884234
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.0419428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7411731420 19196722 14580682 16827153 19196723
MESH:D020149 Manganese Poisoning Tamoxifen 4.8719453300
MESH:D008545 Melanoma Tamoxifen 1.9012393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.4715990972
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3516381670
MESH:D009181 Mycoses Amiodarone 5.2212754197 17974566
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 5.933581430
MESH:D009362 Neoplasm Metastasis Tamoxifen 5.9319393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5719410462
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2511141357
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3219189210 19200415 19196722
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.046679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.614026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.343988306
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.747296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.796228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811399792 11222880 11118676 11896295
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0817292933
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0815067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.6015861022 16919318
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9212832656 12490602 11597910
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.523692021
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.3718724381
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.7610029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7616192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.6516709447
MESH:D013088 Spermatocele Tamoxifen 12.6516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.3219457130
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D013276 Stomach Ulcer Amiodarone 3.5218087811
MESH:D013610 Tachycardia Amiodarone 4.5311238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.4319225199
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Amiodarone 13.1419731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 13.1412697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.046582329 3712494 6587162 7505956 1399818
MESH:D013971 Thyrotoxicosis Amiodarone 5.1219584973 18020914
MESH:D016171 Torsades de Pointes Amiodarone 4.4711989578 17467628
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.698074119
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.6917053015
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.6917572228 8653321 16712894
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7514671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
Pathway ID Pathway Name
REACT:14797 Signaling by GPCR
REACT:11044 Signaling by Rho GTPases
REACT:11061 Signalling by NGF
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134907925
    • No data
    Releated disease ID Related disease Name
    PA443690Charcot-Marie-Tooth Disease
    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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