AutismKB 2.0

Annotation Detail for EFCAB2


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Basic Information Top
Gene Symbol:EFCAB2 ( FLJ33608,MGC12458 )
Gene Full Name: EF-hand calcium binding domain 2
Band: 1q44
Quick LinksEntrez ID:84288; OMIM: NA; Uniprot ID:EFCB2_HUMAN; ENSEMBL ID: ENSG00000203666; HGNC ID: 28166
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
D000082 Acetaminophen Acetaminophen affects the expression of EFCAB2 mRNAaffects expression 17562736
D001151 Arsenic Arsenic affects the expression of EFCAB2 mRNAaffects expression 18414638
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of EFCAB2 mRNAdecreases expression 20106945
D016572 Cyclosporine Cyclosporine results in increased expression of EFCAB2 mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0620127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.866695378
MESH:D018246 Adrenocortical Adenoma Arsenic 5.9417306315
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.6419183758
MESH:D020261 Arsenic Poisoning Arsenic 2.9516835338 18414634 16251483 12569548
MESH:D050197 Atherosclerosis Arsenic 3.4619371607 12928151
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9917474063 20146248
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.7815504454 17687452
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 3.163084413
MESH:D006528 Carcinoma, Hepatocellular Arsenic 3.1617306315 16507464
MESH:D002294 Carcinoma, Squamous Cell Arsenic 5.0218922899 17687452 15504454
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 5.0220419170
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.4718640142
MESH:D002318 Cardiovascular Diseases Arsenic 3.7115738583 17938729 19152805
MESH:D002340 Carotid Artery Diseases Arsenic 4.6816973168 18022660
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7912371664
MESH:D002779 Cholestasis Cyclosporine 3.2119486331
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6718071297 10774834 16109766 12594235 11287661 10663392 14986274 14550746 11739529 19164858 11461765 12540782 19416960 16393943 17906064 12153990 10915739 2444490 16177239 16485898 16081117 19923254 16781746 19370779 15968718 17562736 19085960 11529661 12705907 17522070 11743745 11421492 18713872 12392966 14725611 11834606 19739265 15619225 16227642 19420014 12958197
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0816530937
MESH:D005234 Fatty Liver Cyclosporine 3.2819224547
MESH:D005355 Fibrosis Cyclosporine 3.7012639820 12168785
MESH:D005534 Foot Diseases Arsenic 6.286392382
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.858708960
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8320471113
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.0515720958
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.8517050553
MESH:D006973 Hypertension Arsenic 5.7116076760 9931084 11953799
MESH:D006973 Hypertension Cyclosporine 5.7110903974
MESH:D006987 Hypesthesia Arsenic 6.2816093927
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.1615604871
MESH:D007642 Keratosis Arsenic 5.6212749816 16930632
MESH:D007674 Kidney Diseases Acetaminophen 6.4815629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 6.4810903974 8314463 18776723
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0812371664
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.7917339181
MESH:D008107 Liver Diseases Acetaminophen 4.3312969438 16611625 19784758 11587558 19460945 12587719 16610002 19014921
MESH:D008107 Liver Diseases Arsenic 4.3311134558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6317185352 16871587
MESH:D008113 Liver Neoplasms Arsenic 5.0916368122
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 5.0921137059 20195826
MESH:D008175 Lung Neoplasms Arsenic 2.6319168569 17976673 17306315
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.6320064080 18569708 17053015 20135361 20869020 18816296 18520028 6695378 20464547
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.5116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5016381670
MESH:D017202 Myocardial Ischemia Arsenic 4.3115371236
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3311141357
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.1617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6519348381 18481113
MESH:D009436 Neural Tube Defects Arsenic 3.6916620997
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D020078 Neurogenic Inflammation Arsenic 4.8417056641
MESH:D010051 Ovarian Neoplasms Arsenic 2.8417306315
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.6816093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.6216905509 15371236 6392382
MESH:D011230 Precancerous Conditions Cyclosporine 3.5912371664
MESH:D011471 Prostatic Neoplasms Arsenic 3.2216140617
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.2217292933
MESH:D011507 Proteinuria Arsenic 4.4721343184
MESH:D011565 Psoriasis Cyclosporine 2.3316882103
MESH:D012871 Skin Diseases Arsenic 2.8219834688 17938729 15952646 17453740 17050553 16353154 17548696 16702368 18709164 16759981 6392382
MESH:D012878 Skin Neoplasms Arsenic 6.3617976673 16251483 17029826 15504454 17050553 19538983
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.3619755658 10029692
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D001749 Urinary Bladder Neoplasms Arsenic 5.5917976673 19429237 15987713 17306315 19322015 18640142 11144890
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.5917053015
MESH:D014581 Urticaria Acetaminophen 3.4410982225
MESH:D014605 Uveitis Cyclosporine 4.711336536
MESH:D014652 Vascular Diseases Arsenic 5.3717056641
MESH:D014985 Xerophthalmia Cyclosporine 5.1617120751
No data
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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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