AutismKB 2.0

Annotation Detail for AMPH


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Basic Information Top
Gene Symbol:AMPH ( AMPH1 )
Gene Full Name: amphiphysin
Band: 7p14.1
Quick LinksEntrez ID:273; OMIM: 600418; Uniprot ID:AMPH_HUMAN; ENSEMBL ID: ENSG00000078053; HGNC ID: 471
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04666Fc gamma R-mediated phagocytosis
No data
Pathway IDPathway Name
200146Internalization of ErbB1
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C027576 4-hydroxy-2-nonenal 4-hydroxy-2-nonenal results in decreased expression of AMPH mRNAdecreases expression 12419474
D000082 Acetaminophen Acetaminophen affects the expression of AMPH mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of AMPH mRNAaffects expression 16483693
C002791 bismuth tripotassium dicitrate bismuth tripotassium dicitrate results in decreased expression of AMPH mRNAdecreases expression 15912405
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of AMPH mRNAdecreases expression 15336504
12419474
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of AMPH mRNAaffects expression 12734012
D002713 Chlorine [Ozone co-treated with Chlorine] results in increased expression of AMPH mRNAaffects cotreatment|increases expression 18636392
D016572 Cyclosporine Cyclosporine results in decreased expression of AMPH mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of AMPH mRNAaffects cotreatment|increases expression 17942748
D006861 Hydrogen Peroxide Hydrogen Peroxide results in decreased expression of AMPH mRNAdecreases expression 12419474
D010126 Ozone [Ozone co-treated with Chlorine] results in increased expression of AMPH mRNAaffects cotreatment|increases expression 18636392
C006253 pirinixic acid NCF1 protein promotes the reaction [pirinixic acid results in decreased expression of AMPH mRNA]decreases expression|increases reaction 17950772
C006253 pirinixic acid pirinixic acid results in decreased expression of AMPH mRNAdecreases expression 17950772
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in decreased expression of AMPH mRNA]decreases expression|increases reaction 17950772
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of AMPH mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9614514962 15322242 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.6818287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.0817505938
MESH:D055371 Acute Lung Injury Chlorine 9.4420601635
MESH:D055371 Acute Lung Injury pirinixic acid 9.4418653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8314692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.3016434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.3016835633
MESH:D000544 Alzheimer Disease Ozone 2.4515513908
MESH:D000690 Amyotrophic Lateral Sclerosis 4-hydroxy-2-nonenal 4.1510965797
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D000799 Angioedema Acetaminophen 3.9810982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.5711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7115885639
MESH:D001172 Arthritis, Rheumatoid Ozone 2.5715570426
MESH:D001249 Asthma Ozone 2.6616373670 17854713
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.0419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.0412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8115746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.7020435547
MESH:D016535 Bronchial Hyperreactivity Ozone 3.7415516495 16777450 18417511 14754758 18315731 17626835 19059883
MESH:D002100 Cachexia Ozone 4.8616183385
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.8815673190 18705752 16227642 16124888 10355542 16011737 3786805 16097048 16192424 15700767 16050911 15721981
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8616835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.883084413
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 2.8818788625
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4116120746 18670907 18850075
MESH:D002318 Cardiovascular Diseases Hydrogen Peroxide 3.5716936243
MESH:D002386 Cataract Acetaminophen 2.6310977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.5812371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2316835633
MESH:D002779 Cholestasis Cyclosporine 13.7019486331
MESH:D002779 Cholestasis Ethinyl Estradiol 13.7016105132 11677210 16919318 17681005 17333356 15861022 17110522
MESH:D002779 Cholestasis pirinixic acid 13.7019176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.138697196 12621046 16354765 15668235 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4618249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.2516081117 19416960 15968718 18713872 19085960 11529661 16177239 11461765 17906064 16781746 12705907 14725611 18071297 10663392 12958197 11739529 10915739 19739265 16109766 11743745 11287661 17562736 19370779 19164858 16227642 12392966 12153990 2444490 16485898 14550746 19923254 15619225 17522070 16393943 14986274 11421492 11834606 12594235 12540782 19420014 10774834
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.2516177239 6623471 4309450 15027814 7440962 6884620 16227642 3786805 2869522 21278145 19085960 7179309 15968718 7120509 11566570 10092053 9327722 15998439 17522070 10915739 3732212 19336974
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.2520420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2319426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8211462148
MESH:D004417 Dyspnea Chlorine 4.7620016425
MESH:D004487 Edema pirinixic acid 6.8112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.8112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0415322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.2812538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1010568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver Carbon Tetrachloride 19.4312631006 61145 16239168 19224547 15959796 17595544 16045604 12795759
MESH:D005234 Fatty Liver Cyclosporine 19.4319224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 19.4315345470
MESH:D005234 Fatty Liver pirinixic acid 19.4320131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005355 Fibrosis Carbon Tetrachloride 15.3418705752
MESH:D005355 Fibrosis Cyclosporine 15.3412168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 15.3420067830
MESH:D005739 Gas Poisoning Chlorine 5.1420016425
MESH:D005756 Gastritis Acetaminophen 3.8116983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.348708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3711294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.5820558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5415720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.6919110552 19900420
MESH:D006529 Hepatomegaly pirinixic acid 8.6118467677 16221962 19176532 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.6112621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1818606429 16959395 15340226 16354765 8697196
MESH:D006930 Hyperalgesia Acetaminophen 2.7616870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.6516899240
MESH:D006943 Hyperglycemia pirinixic acid 3.2620558911
MESH:D006973 Hypertension Cyclosporine 5.0410903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.0418670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.1915338365
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9116945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5417937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8912878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.6816306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5815604871
MESH:D007674 Kidney Diseases Acetaminophen 5.9415629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 5.9410903974 8314463 18776723
MESH:D007676 Kidney Failure, Chronic Hydrogen Peroxide 4.3516518626
MESH:D007680 Kidney Neoplasms Cyclosporine 2.8012371664
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.8516221502 11408273 11903743 16239168 16943688 17334410 17157831 17174718 21278145
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.4318277467 17766677 17900296 17640975 18263696 16192424 18395095 12667390 18376398 12898905 18054572 12632512 18472332 17557913 18420326 12445421 15931870 15730626 15370692 17525996 15052691 18187930 14716496 15673190 14716833 15818738 12666154 18412020 16011737 16248980 18472094 17631135 12445418 18395914 17481882 17805973 14620537 18418968 14512876 18210741 17976157 12546737 17714472 17708605 15959796 18156304 12649538 15338365 16638106 15876570 16033810 12632514 16097048 13678700 12609069 17761835 15925388 18317297 18251166 15057751 17698563 18705752 16136751 16116963 17922224 14724832 14748882 18429990 18006644 12958196 17869086 15996030 16015684 17721639 12389079 15893842 17823541 15650968 11481614 18205269 16027843 20821823 10355542 12741479 18339082 12586293 15362042 15123356 18166357 18481824 18279442 17565644 17944888
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4315474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4312878042
MESH:D008107 Liver Diseases Acetaminophen 3.9619784758 12969438 19014921 16611625 11587558 19460945 16610002 12587719
MESH:D008107 Liver Diseases Carbon Tetrachloride 3.9617285989 16246199 15720792 16964402 15830285
MESH:D017093 Liver Failure Carbon Tetrachloride 4.2715123358
MESH:D017114 Liver Failure, Acute Acetaminophen 9.6716871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 9.6714706259 16899240
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.5019294768
MESH:D008113 Liver Neoplasms pirinixic acid 7.5020007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.5016984957
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 5.9215583823 12014681
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.9212151625
MESH:D008171 Lung Diseases Ozone 3.438266340 19066396
MESH:D055370 Lung Injury Ozone 3.9520417186
MESH:D008175 Lung Neoplasms Ozone 2.407614698 8597069
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.4019555203 11884234
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6719513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9216801185
MESH:D008679 Metaplasia Ozone 5.2410496685
MESH:D009135 Muscular Diseases pirinixic acid 3.6116239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1719151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0116411023
MESH:D009369 Neoplasms pirinixic acid 1.9817405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3618481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3114600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9418514411
MESH:D009765 Obesity pirinixic acid 1.8320558911
MESH:D010146 Pain Acetaminophen 2.4616870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.7711578682
MESH:D010212 Papilloma Hydrogen Peroxide 4.1912065085
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D010538 Peritonitis Ozone 4.2316369182
MESH:D010787 Photosensitivity Disorders 4-hydroxy-2-nonenal 5.6411550810
MESH:D011014 Pneumonia Ozone 4.5118381685 18007984 18929643
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.2912371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3111222880 11118676 11399792 11896295
MESH:D011537 Pruritus Ethinyl Estradiol 3.4316919318 15861022
MESH:D011565 Psoriasis Cyclosporine 2.2516882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4219058328
MESH:D012120 Respiration Disorders Chlorine 5.3518579056
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012878 Skin Neoplasms Hydrogen Peroxide 9.7012065085
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 9.708532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.7016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.0816709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7111994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D014581 Urticaria Acetaminophen 3.0610982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.3914692618
MESH:D014605 Uveitis Cyclosporine 4.121336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6214671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
MESH:D014985 Xerophthalmia Cyclosporine 4.5817120751
Pathway ID Pathway Name
KEGG:04666 Fc gamma R-mediated phagocytosis
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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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