AutismKB 2.0

Annotation Detail for AVEN


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Basic Information Top
Gene Symbol:AVEN ( PDCD12 )
Gene Full Name: apoptosis, caspase activation inhibitor
Band: 15q14
Quick LinksEntrez ID:57099; OMIM: 605265; Uniprot ID:AVEN_HUMAN; ENSEMBL ID: ENSG00000169857; HGNC ID: 13509
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1848Embryoma
1884Mesothelioma
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of AVEN mRNAaffects expression 21346803
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of AVEN mRNAdecreases expression 20064835
D016572 Cyclosporine Cyclosporine results in increased expression of AVEN mRNAincreases expression 20106945
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of AVEN mRNAaffects cotreatment|increases expression 17942748
D005472 Fluorouracil Fluorouracil results in decreased expression of AVEN mRNAdecreases expression 16510598
D005472 Fluorouracil Fluorouracil results in increased expression of AVEN mRNAincreases expression 16709241
C419708 gefitinib AVEN protein affects the susceptibility to gefitinibaffects response to substance 15496427
D012402 Rotenone Rotenone results in increased expression of AVEN mRNAincreases expression 19013527
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of AVEN mRNAincreases expression 19684285
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of AVEN mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of AVEN mRNAincreases expression 15328365
19684285
C025643 vinclozolin vinclozolin affects the expression of AVEN mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1311752688 14514962 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.3120127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.3114692618
MESH:D000230 Adenocarcinoma Fluorouracil 7.3117638652
MESH:D000236 Adenoma Benzo(a)pyrene 2.766695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6616835633
MESH:D000740 Anemia Fluorouracil 9.3315504547 16511603 17963324
MESH:D000740 Anemia Tetrachlorodibenzodioxin 9.3311748828
MESH:D001008 Anxiety Disorders vinclozolin 3.8019015723
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3319183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8320146248 17474063
MESH:D001943 Breast Neoplasms Fluorouracil 1.8316595493 18608205 15136595 18357371 19217205 16110121 16557594
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8320435547
MESH:D002276 Carcinoid Tumor Fluorouracil 4.9916051944
MESH:D002277 Carcinoma Fluorouracil 8.7417121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.7416835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.1616705839
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 3.1616332177 17971768 18930000 16799960 17045692 17088986
MESH:D002289 Carcinoma, Non-Small-Cell Lung marker/mechanism 15496427
MESH:D002289 Carcinoma, Non-Small-Cell Lung gefitinib 4.0116230376 18347146 19233551 15496427 17290066 20005069
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.1018695887
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.8120419170
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 4.8118986760 16280240 16757204 17066447
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.6612371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis Cyclosporine 8.2819486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.2817110522 16919318 15861022 11677210 17333356 17681005 16105132
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1815340226 8697196 12621046 16354765 15668235
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2617018589 18772588 17172411 15001691 17287894 16340194 17016597 17725105 17169374 16510598
MESH:D015179 Colorectal Neoplasms Fluorouracil 3.0918448328 17454858 16282729 16303861 20501625 18288408 17695437 17401013 16524972 18383874 18802399 16331619 14970324 18509181 17255274 17594712 17094418 15289873 16391804 17016601 18949393 15148649
MESH:D015179 Colorectal Neoplasms gefitinib 3.0917594712
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 15322242 10048152
MESH:D003456 Cryptorchidism vinclozolin 4.5814966744
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.2718551238
MESH:D007644 Darier Disease Fluorouracil 5.0816733453
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 3.8718551238 21346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2215322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4212538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.219294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.6416530937
MESH:D004938 Esophageal Neoplasms Fluorouracil 4.6416481741 16785472 15173087 17638652 16337965
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Cyclosporine 8.2719224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.2715345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Cyclosporine 9.3612168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.3620067830
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.2216973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.6216417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D005910 Glioma Fluorouracil 2.9416145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5218337622 15162350 15102660
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.7720471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.7710048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1512621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3616354765 15340226 8697196 18606429 16959395
MESH:D006973 Hypertension Cyclosporine 5.1710903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1718670907 18850075
MESH:D006976 Hypertension, Pulmonary gefitinib 4.8418424623
MESH:D017380 Hypertrophy, Right Ventricular gefitinib 6.5218424623
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.1017937319
MESH:D007248 Infertility, Male vinclozolin 7.1016467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9512200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.4418776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 19.3116705839
MESH:D007680 Kidney Neoplasms Cyclosporine 19.3112371664
MESH:D007680 Kidney Neoplasms Fluorouracil 19.3116985049
MESH:D007680 Kidney Neoplasms gefitinib 19.3118625569
MESH:D007984 Leydig Cell Tumor vinclozolin 5.0216417039
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.8020195826 21137059
MESH:D008113 Liver Neoplasms Fluorouracil 7.8017045692 18383874 15113037 16603448
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.8016984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2212151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.4818520028 18816296 17053015 18569708 6695378 20064080 20135361 20869020 20464547
MESH:D008175 Lung Neoplasms Fluorouracil 3.4815246190
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4819555203 11884234
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.0815086387
MESH:D008325 Mammary Neoplasms, Experimental gefitinib 4.2518375820
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 9.0616381670
MESH:D009062 Mouth Neoplasms Fluorouracil 9.0616757204 18986760
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.1418551238
MESH:D009369 Neoplasms Benzo(a)pyrene 5.3711141357
MESH:D009369 Neoplasms Fluorouracil 5.3716928823 18600527 18239605
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4718481113 19348381
MESH:D009410 Nerve Degeneration Rotenone 4.0418619942 17356569 15790535
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.5716436463
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.6216049721 12819281
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7216929163 16500647 15113037 19003803
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010300 Parkinson Disease Rotenone 3.0415451049 18619942 11535288 16140633 19114014 16412576 19232380 18191903 11445065
MESH:D020734 Parkinsonian Disorders Rotenone 4.2715574749 15795934 15927086 18197244
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4012371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.4611896295 11399792 11118676 11222880
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.4618042343 19015723 18220299
MESH:D011469 Prostatic Diseases vinclozolin 5.2218220299
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.7117292933
MESH:D011471 Prostatic Neoplasms Fluorouracil 2.7119082440 18626508
MESH:D011471 Prostatic Neoplasms gefitinib 2.7116685379 17914592 15651060
MESH:D011472 Prostatitis vinclozolin 5.2218629315
MESH:D011537 Pruritus Ethinyl Estradiol 3.6016919318 15861022
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D011658 Pulmonary Fibrosis gefitinib 4.0718424623
MESH:D012004 Rectal Neoplasms Fluorouracil 4.1918286688 18722050 16160472 15538739
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012640 Seizures 2,4-dinitrotoluene 2.6618551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.7610029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7616192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2616709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4620155912 2093021
MESH:D013274 Stomach Neoplasms Fluorouracil 2.4618567086 19084572 17498489 17172411 18396642 16424979 16951190 15786421 19015929 17522103
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D013964 Thyroid Neoplasms gefitinib 4.6216940797
MESH:D014062 Tongue Neoplasms Fluorouracil 4.1816280240
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.2016049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.2017053015
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.6010091137
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.0716803524
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7514671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
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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