AutismKB 2.0

Annotation Detail for DFNA5


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Basic Information Top
Gene Symbol:DFNA5 ( ICERE-1 )
Gene Full Name: deafness, autosomal dominant 5
Band: 7p15
Quick LinksEntrez ID:1687; OMIM: 608798; Uniprot ID:DFNA5_HUMAN; ENSEMBL ID: ENSG00000105928; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Deafness, autosomal dominant 5
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of DFNA5 mRNAincreases expression 19933214
C010914 2,4-diaminotoluene 2,4-diaminotoluene results in increased expression of DFNA5 mRNAincreases expression 20713471
D000082 Acetaminophen Acetaminophen affects the expression of DFNA5 mRNAaffects expression 17562736
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of DFNA5 proteinaffects expression 20106945
C015001 arsenite arsenite results in decreased expression of DFNA5 mRNAdecreases expression 18929588
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of DFNA5 mRNAincreases expression 20106945
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of DFNA5 mRNAincreases expression 20713471
D003907 Dexamethasone Dexamethasone results in increased expression of DFNA5 mRNAincreases expression 12782123
D004128 Dimethylnitrosamine Dimethylnitrosamine results in increased expression of DFNA5 mRNAincreases expression 17547211
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of DFNA5 mRNAaffects cotreatment|increases expression 17942748
D008748 Methylcholanthrene Methylcholanthrene results in increased expression of DFNA5 mRNAincreases expression 20713471
C002950 methylformamide methylformamide analog results in increased expression of DFNA5 mRNAincreases expression 17040096
C002950 methylformamide methylformamide results in increased expression of DFNA5 mRNAincreases expression 17040096
D012643 Selenium Selenium results in decreased expression of DFNA5 mRNAdecreases expression 19244175
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of DFNA5 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of DFNA5 mRNAincreases expression 18691609
19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.9614514962 15322242 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.0817505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.2220127859 20464547
MESH:D000230 Adenocarcinoma Dimethylnitrosamine 7.2216033868
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.2214692618
MESH:D000236 Adenoma Benzo(a)pyrene 11.596695378
MESH:D000236 Adenoma Dimethylnitrosamine 11.5919555203
MESH:D000236 Adenoma Methylcholanthrene 11.596695378 10545420
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.4916835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D000799 Angioedema Acetaminophen 3.9810982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1819183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.5711256880
MESH:D001169 Arthritis, Experimental Dexamethasone 7.5417659584
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.5415885639
MESH:D050197 Atherosclerosis Methylcholanthrene 3.5011922910
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8115746008
MESH:D001943 Breast Neoplasms 2,4-diaminotoluene 2.0111921183
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0117474063 20146248
MESH:D001943 Breast Neoplasms Methylcholanthrene 2.0117474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0120435547
MESH:D002277 Carcinoma Dimethylnitrosamine 14.4419555203
MESH:D002277 Carcinoma Methylcholanthrene 14.4410545420
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 14.4416835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.923084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 2.9221507988 12907637 12619106
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.8820419170
MESH:D002294 Carcinoma, Squamous Cell Dimethylnitrosamine 4.8816033868
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4118670907 18850075 16120746
MESH:D002386 Cataract Acetaminophen 2.6310977129
MESH:D002471 Cell Transformation, Neoplastic Methylcholanthrene 3.5616192471
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2316835633
MESH:D002779 Cholestasis Ethinyl Estradiol 2.9317681005 17333356 15861022 17110522 16105132 16919318 11677210
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1315340226 12621046 8697196 15668235 16354765
MESH:D003092 Colitis Selenium 3.8817936198
MESH:D003110 Colonic Neoplasms arsenite 4.1015037631
MESH:D003110 Colonic Neoplasms Dexamethasone 4.1015824018
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1317141729 14669216
MESH:D019465 Craniofacial Abnormalities Dexamethasone 2.6417728286
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.6410048152 20055451 15322242
OMIM:600994 DEAFNESS, AUTOSOMAL DOMINANT 5 marker/mechanism
MESH:D017449 Dermatitis, Allergic Contact Dexamethasone 3.5112438553
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
MESH:D003967 Diarrhea Dexamethasone 3.797237001
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.1819164858 16393943 19420014 19370779 10663392 16177239 14550746 16109766 10774834 16485898 11739529 16081117 17906064 12392966 2444490 12958197 18713872 19085960 10915739 17562736 12153990 16227642 11529661 11834606 15619225 19416960 12540782 11461765 12594235 18071297 19923254 19739265 11743745 14986274 12705907 11287661 15968718 11421492 16781746 17522070 14725611
MESH:D056486 Drug-Induced Liver Injury Dimethylnitrosamine 9.188172417
MESH:D056486 Drug-Induced Liver Injury Selenium 9.1815131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.1820420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2319426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8211462148
MESH:D004485 Eczema Dexamethasone 4.5512438553
MESH:D004487 Edema Dexamethasone 7.1519703484
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.1512711302 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:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.7216530937
MESH:D004938 Esophageal Neoplasms Dimethylnitrosamine 4.7217016578
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver arsenite 8.1918296743
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.1915345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005354 Fibrosarcoma Methylcholanthrene 5.0614633661 10962813
MESH:D005355 Fibrosis arsenite 9.1718296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.1720067830
MESH:D005756 Gastritis Acetaminophen 3.8116983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.5820471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.5811294989 10048152
MESH:D006333 Heart Failure Selenium 3.1217162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0012621046 16120746 15340226
MESH:D006548 Hernia, Diaphragmatic Dexamethasone 3.097520565
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.188697196 18606429 16959395 15340226 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.7616870215
MESH:D006973 Hypertension Dexamethasone 5.3517042910
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.3518850075 18670907
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 Dexamethasone 5.2111099482 8960868
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2112878042 12200463
MESH:D007251 Influenza, Human Selenium 4.3316624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2412587719 15629191
MESH:D007676 Kidney Failure, Chronic Selenium 3.9716518626
MESH:D008103 Liver Cirrhosis arsenite 3.4618296743
MESH:D008106 Liver Cirrhosis, Experimental Dexamethasone 3.6616718785
MESH:D008106 Liver Cirrhosis, Experimental Dimethylnitrosamine 3.6618637143 16570917 17198567 15591649 17201889 12925901 16169303 17881167 15383259 16603200 18567088 15161499 15504291 15138612 18239293 17203207 18629640 14659978 15798949 15723089 15793283 15366600 14726149 15571005 16627068 18364076 15744066 18371158 15577212 17196135 17534399 14568256 15763062 15942678 17432682 16544323 15842777 15067225 15081153 18210741 15479170 15733078 16009107 18237412 17640959 16270385 17719030 15369754 15298665 17666798 14709902 18095165 15492853 17465448 17348192 15086199 16042886 15864749 18672772 17724770 17036385 15099470 12918455 14643895 15339415
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.6612878042
MESH:D008107 Liver Diseases Acetaminophen 1.6519014921 19784758 12969438 12587719 19460945 16611625 16610002 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 9.9316871587 17185352
MESH:D017114 Liver Failure, Acute Dimethylnitrosamine 9.9317457977
MESH:D008113 Liver Neoplasms Aflatoxin B1 10.9615890375 18177683 9163691 2125692
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 10.9621137059 20195826
MESH:D008113 Liver Neoplasms Dimethylnitrosamine 10.9615890375 3113478
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.9616984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 14.608603461
MESH:D008114 Liver Neoplasms, Experimental Dimethylnitrosamine 14.606150874 1848544 15603536
MESH:D008114 Liver Neoplasms, Experimental Methylcholanthrene 14.601399818 598648
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 14.6012151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 10.8714755239
MESH:D008175 Lung Neoplasms arsenite 10.8716809336
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 10.876695378 20464547 20869020 18816296 18520028 18569708 17053015 20135361 20064080
MESH:D008175 Lung Neoplasms Dexamethasone 10.8715824018 11195469
MESH:D008175 Lung Neoplasms Dimethylnitrosamine 10.8716061637 11884234 19555203
MESH:D008175 Lung Neoplasms Methylcholanthrene 10.871399818 6695378 20970405 11893704 7750092 20512841 9230183 15390079 16271038 16337739 21163286 10545420 17909032
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 10.8719555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental 2,4-diaminotoluene 6.5611921183
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.5615318939
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6719513568
MESH:D008654 Mesothelioma Selenium 2.8215107826
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2516381670
MESH:D009101 Multiple Myeloma Dexamethasone 3.5615744524 15867202 16118317
MESH:D009190 Myelodysplastic Syndromes Dexamethasone 3.589809623
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2011141357
MESH:D009389 Neovascularization, Pathologic arsenite 4.5315738583
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3114600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9418514411
MESH:D010146 Pain Acetaminophen 2.4616870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.7711578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D010954 Plasmacytoma Selenium 5.0215087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma Dexamethasone 3.5921297632
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3111222880 11118676 11399792 11896295
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9617292933
MESH:D011537 Pruritus Ethinyl Estradiol 3.4315861022 16919318
MESH:D012128 Respiratory Distress Syndrome, Adult Dexamethasone 4.1018379247 11700416
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.5910029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.5916192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.0816709447
MESH:D013158 Splenic Diseases Dimethylnitrosamine 5.4012587719
MESH:D013272 Stomach Diseases Dexamethasone 4.4415472012
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.612093021 20155912
MESH:D013274 Stomach Neoplasms Dimethylnitrosamine 2.6116033868
MESH:D013276 Stomach Ulcer Dexamethasone 3.5715138204
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7111994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2017053015
MESH:D014581 Urticaria Acetaminophen 3.0610982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.3914692618
MESH:D014605 Uveitis Dexamethasone 4.951336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6214671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
No data
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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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