AutismKB 2.0

Annotation Detail for EFHA1


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Basic Information Top
Gene Symbol:EFHA1 ( 1110008L20Rik,FLJ25016,FLJ34588 )
Gene Full Name: EF-hand domain family, member A1
Band: 13q12.11
Quick LinksEntrez ID:221154; OMIM: 610632; Uniprot ID:EFHA1_HUMAN; ENSEMBL ID: ENSG00000165487; HGNC ID:
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 EFHA1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of EFHA1 mRNAaffects expression 16483693
D007657 Ketone Bodies Ketone Bodies results in increased expression of EFHA1 mRNAincreases expression 16807920
C008493 methylselenic acid methylselenic acid results in decreased expression of EFHA1 mRNAdecreases expression 18548127
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of EFHA1 mRNAaffects binding|increases expression 16214954
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of EFHA1 mRNAincreases expression 18796159
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3811752688 14514962 15322242
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5416120746 18670907 18850075
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2215668235 8697196 12621046 15340226 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.8318071297 2444490 16109766 19923254 14986274 16393943 16081117 16485898 10915739 12392966 16227642 15619225 19739265 19370779 11287661 10774834 19085960 12540782 15968718 19164858 11834606 12153990 17906064 12958197 12705907 17522070 16177239 10663392 18713872 17562736 16781746 11421492 11739529 14550746 19416960 12594235 14725611 11529661 11461765 19420014 11743745
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8320420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7412711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5115322242 16714409 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.379294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.4320067830
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4911294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3715340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6615340226 16354765 8697196 18606429 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3815629191 12587719
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Acetaminophen 1.6912969438 12587719 19784758 16611625 19014921 16610002 19460945 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5816871587 17185352
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8216984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3112151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311896295 11118676 11222880 11399792
MESH:D011471 Prostatic Neoplasms methylselenic acid 3.8416205645
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1816192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
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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