AutismKB 2.0

Annotation Detail for EFR3A


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Basic Information Top
Gene Symbol:EFR3A ( DKFZp781J0562,KIAA0143 )
Gene Full Name: EFR3 homolog A (S. cerevisiae)
Band: 8q24.22
Quick LinksEntrez ID:23167; OMIM: 611798; Uniprot ID:EFR3A_HUMAN; ENSEMBL ID: ENSG00000132294; HGNC ID: 28970
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D006710 Homocysteine Homocysteine results in decreased expression of EFR3A mRNAdecreases expression 17326132
D007213 Indomethacin Indomethacin results in decreased expression of EFR3A mRNAdecreases expression 16984733
D012402 Rotenone Rotenone results in increased expression of EFR3A mRNAincreases expression 19013527
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of EFR3A mRNAincreases expression 19465110
D014635 Valproic Acid Valproic Acid results in increased expression of EFR3A mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 10.1715322242 11752688 14514962
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 10.178875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3019490988
MESH:D000230 Adenocarcinoma Indomethacin 2.8516537180
MESH:D000236 Adenoma Indomethacin 3.6311497255
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D016301 Alveolar Bone Loss Indomethacin 5.9817225004
MESH:D000544 Alzheimer Disease Indomethacin 2.7617627676 15579461
MESH:D000550 Amblyopia Valproic Acid 5.8517688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001008 Anxiety Disorders Valproic Acid 3.8617497229
MESH:D001014 Aortic Aneurysm Indomethacin 5.2910231640
MESH:D017544 Aortic Aneurysm, Abdominal Indomethacin 5.3610388637
MESH:D018771 Arthralgia Indomethacin 5.782160914
MESH:D001172 Arthritis, Rheumatoid Indomethacin 2.8811248219
MESH:D001321 Autistic Disorder Homocysteine 2.4520468076 16297937
MESH:D001321 Autistic Disorder Valproic Acid 2.4517157402 18558336 18177632 18316065 18396377 17688650 18940202 18985861 16609825 17507914 18775368 19460635 19232924 15238991 20603192
MESH:D001477 Bartter Syndrome Indomethacin 5.4710684365
MESH:D001714 Bipolar Disorder Valproic Acid 3.2317594078 20046352
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.7215746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.728888407
MESH:D001929 Brain Edema Indomethacin 5.6411481608
MESH:D002545 Brain Ischemia Indomethacin 4.9612524144
MESH:D001943 Breast Neoplasms Indomethacin 2.1617401462
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.1620435547
MESH:D002056 Burns Indomethacin 5.1910459503
MESH:D002100 Cachexia Indomethacin 5.5511239499 15625704 16537180 15141370
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular Indomethacin 2.4716391822
MESH:D018827 Carcinoma, Lewis Lung Indomethacin 5.2711053908
MESH:D018276 Carcinoma, Medullary Indomethacin 5.8914736730 11352223 18791128
MESH:D002292 Carcinoma, Renal Cell Indomethacin 3.5117341418
MESH:D002294 Carcinoma, Squamous Cell Indomethacin 2.9315482327 12636206
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5416120746 18850075 18670907
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8120734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002764 Cholecystitis Indomethacin 5.7811181007
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.228697196 15668235 15340226 16354765 12621046
MESH:D003110 Colonic Neoplasms Indomethacin 2.6315786552 11260862 15963497 15936596 15625704 15637740
MESH:D015179 Colorectal Neoplasms Indomethacin 2.3618059344 17054584 11197048 12606626
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3817141729 14669216
MESH:D003324 Coronary Artery Disease Homocysteine 3.8516379339
MESH:D018352 Coronavirus Infections Indomethacin 6.3317302372
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5510048152 15322242 20055451
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.558888407 17688650 16575769
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D003967 Diarrhea Indomethacin 4.237907874 7237001
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0520420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.0519641884 1733752
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004374 Ductus Arteriosus, Patent Indomethacin 5.6918043480 12774134 18446180 16326151 17190690 16133044
MESH:D004381 Duodenal Ulcer Indomethacin 4.5717151854 17202747 11535926 11595431 17045617 11991626 17329845 10671773 11595415 17351913 16699067
MESH:D004421 Dystonia Valproic Acid 4.451851702
MESH:D004487 Edema Indomethacin 8.177907874 7990266 16100529 10653021 8273558 8985016 19703484
MESH:D004487 Edema Tetrachlorodibenzodioxin 8.1711000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5116714409 15322242 18230668
MESH:D004715 Endometriosis Indomethacin 10.2515652904
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 10.2510568697 9294722
MESH:D019446 Endotoxemia Indomethacin 5.0418509659
MESH:D004751 Enteritis Indomethacin 5.3610567023 16328016 17763956
MESH:D020345 Enterocolitis, Necrotizing Indomethacin 5.4717980183
MESH:D004802 Eosinophilia Indomethacin 4.5311298111
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.6417275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.533922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0920417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.917562514 6426943 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.787750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.603659116
MESH:D004938 Esophageal Neoplasms Indomethacin 2.8711005569
MESH:D017889 Exfoliation Syndrome Homocysteine 6.2416504073
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Valproic Acid 3.6714986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005315 Fetal Diseases Valproic Acid 5.5016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.5718558336 8888407
MESH:D005334 Fever Indomethacin 4.4717627676 11852909 10431976
MESH:D005354 Fibrosarcoma Indomethacin 5.4310962813
MESH:D005355 Fibrosis Indomethacin 10.4817994277
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.4820067830
MESH:D005499 Folliculitis Indomethacin 5.7811298111
MESH:D005756 Gastritis Indomethacin 5.3615046732
MESH:D005901 Glaucoma Homocysteine 5.6916504073
MESH:D005909 Glioblastoma Indomethacin 3.7812870263
MESH:D005910 Glioma Indomethacin 3.3418371953 16487511
MESH:D005923 Glomerulosclerosis, Focal Segmental Indomethacin 4.5711849393
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006073 Gout Indomethacin 5.8911248219
MESH:D006258 Head and Neck Neoplasms Indomethacin 3.9715482327
MESH:D006330 Heart Defects, Congenital Homocysteine 7.4919638421
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.4911294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006501 Hepatic Encephalopathy Indomethacin 4.9415633222
MESH:D019698 Hepatitis C, Chronic Indomethacin 5.1215135802
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3712621046 15340226 16120746
MESH:D006849 Hydrocephalus Valproic Acid 5.4117688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6615340226 16959395 18606429 16354765 8697196
MESH:D006930 Hyperalgesia Indomethacin 4.0612727271
MESH:D034321 Hyperamylasemia Indomethacin 6.3317883296
MESH:D006940 Hyperemia Indomethacin 5.5512524144
MESH:D020138 Hyperhomocysteinemia Homocysteine 5.0317292331 17369066 18234410
MESH:D006949 Hyperlipidemias Indomethacin 4.5617546600
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118850075 18670907
MESH:D007077 Ileal Diseases Indomethacin 5.6418306037 10574470
MESH:D007079 Ileitis Indomethacin 5.8910651667 16133968 10647630
MESH:D007235 Infant, Premature, Diseases Indomethacin 5.9816133044
MESH:D007249 Inflammation Indomethacin 5.6612568917 7812673 3291741
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.6612878042 12200463
MESH:D007410 Intestinal Diseases Indomethacin 4.8117994277 15831440 11855677 17329856 11686837 11713966 10210152 18236018 15610444
MESH:D019586 Intracranial Hypertension Indomethacin 5.9815241188
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007579 Jejunal Diseases Indomethacin 5.6410574470 18306037 16133968
MESH:D007674 Kidney Diseases Indomethacin 3.4517190690
MESH:D016773 Leishmaniasis, Cutaneous Indomethacin 4.2111703811 10320625 12228301
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive Indomethacin 4.1816572323 10785260 15631656
MESH:D015470 Leukemia, Myeloid, Acute Indomethacin 4.2618360721
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 4.2616294345 17596541
MESH:D007964 Leukocytosis Indomethacin 5.9816537180
MESH:D007969 Leukomalacia, Periventricular Indomethacin 6.3317980183
MESH:D008101 Liver Abscess, Amebic Indomethacin 6.3311479899
MESH:D008106 Liver Cirrhosis, Experimental Indomethacin 2.5918194892
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.5912878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8216984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3112151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.8717228818
MESH:D008175 Lung Neoplasms Indomethacin 2.5611053908 11497255 16537180
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.5611884234 19555203
MESH:D008591 Meningomyelocele Homocysteine 6.0216602021
MESH:D008881 Migraine Disorders Indomethacin 8.5511903285
MESH:D008881 Migraine Disorders Valproic Acid 8.5518765137 18803445
MESH:D009062 Mouth Neoplasms Indomethacin 4.2612636206
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.408888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3317596541
MESH:D009203 Myocardial Infarction Homocysteine 3.8317412321
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009362 Neoplasm Metastasis Indomethacin 3.2811053908 11239499 16537180
MESH:D009374 Neoplasms, Experimental Indomethacin 4.6215625704 10663608
MESH:D009410 Nerve Degeneration Rotenone 4.1515790535 17356569 18619942
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.3416359493 8888407
MESH:D019636 Neurodegenerative Diseases Indomethacin 4.2512349958
MESH:D007752 Obstetric Labor, Premature Indomethacin 5.786374098
MESH:D010003 Osteoarthritis Indomethacin 3.867009135
MESH:D010146 Pain Indomethacin 3.7617440234 17627676 3291741 13679232
MESH:D010149 Pain, Postoperative Indomethacin 5.2912538197 18702446
MESH:D010195 Pancreatitis Indomethacin 4.3217883296 15028970
MESH:D010257 Paraneoplastic Syndromes Indomethacin 6.3316537180
MESH:D010300 Parkinson Disease Homocysteine 6.2216275827
MESH:D010300 Parkinson Disease Rotenone 6.2215451049 18191903 19114014 11445065 19232380 16412576 16140633 11535288 18619942
MESH:D020734 Parkinsonian Disorders Indomethacin 10.5612349958
MESH:D020734 Parkinsonian Disorders Rotenone 10.5615574749 15927086 18197244 15795934
MESH:D051302 Paroxysmal Hemicrania Indomethacin 6.3311903285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D010437 Peptic Ulcer Indomethacin 5.6911148446
MESH:D010518 Periodontitis Indomethacin 5.5217225004
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D047928 Premature Birth Indomethacin 5.6117000239
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.3311399792 11118676 11222880 11896295
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 11.3320603192
MESH:D011507 Proteinuria Indomethacin 4.5611849393
MESH:D019310 Pseudolymphoma Valproic Acid 5.1512752131 11422049
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5819155313
MESH:D012559 Schizophrenia Homocysteine 4.1016641680
MESH:D012559 Schizophrenia Valproic Acid 4.1019110320 15737665
MESH:D012640 Seizures Valproic Acid 2.9611044598 17978042 3137016 14763951 1511512 11738929 16876388 15475178
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1816192470
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0619490988
MESH:D013226 Status Epilepticus Valproic Acid 5.1512833885
MESH:D013272 Stomach Diseases Indomethacin 4.9616113693 17160473 10192188 10215738 16184426 15038085 18209964 15472012 18545984 10486359 17207306 17638125 16280098
MESH:D013274 Stomach Neoplasms Indomethacin 2.3615609394
MESH:D013276 Stomach Ulcer Indomethacin 3.9517918041 11523592 16397915 18193104 18543354 17657623 11906479 18181030 10878458 12500499 17135157 18209962 15138204 15255614 12077510 17627676 1323529 16252198 16150113 12498302 10750652 11729361 16755016 16934674 10423059 11595431 17895592 11595415 16631530 11145282 17977527 18299717 17654042 18237397 18726076 14567935 12787963 15104355 16169175 12467913 18087811 18431645
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D013964 Thyroid Neoplasms Indomethacin 3.8514736730 11352223 18791128
MESH:D014178 Translocation, Genetic Valproic Acid 5.8517262798
MESH:D014456 Ulcer Indomethacin 5.4310574470 17380554
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.063119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.138888407
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D014839 Vomiting Indomethacin 5.3611897121
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA128394608
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA450379mercaptopurine
    PA450428methotrexate
    Drug Bank Top

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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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