AutismKB 2.0

Annotation Detail for EIF2C1


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Basic Information Top
Gene Symbol:EIF2C1 ( AGO1,DKFZp686M13167,EIF2C,GERP95,Q99 )
Gene Full Name: eukaryotic translation initiation factor 2C, 1
Band: 1p34.3
Quick LinksEntrez ID:26523; OMIM: 606228; Uniprot ID:AGO1_HUMAN; ENSEMBL ID: ENSG00000092847; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
Regulatory RNA pathways
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of EIF2C1 mRNAincreases expression 18648102
D016572 Cyclosporine Cyclosporine results in decreased expression of EIF2C1 mRNAdecreases expression 20106945
C017947 sodium arsenite sodium arsenite results in decreased expression of EIF2C1 mRNAdecreases expression 16014739
D014212 Tretinoin Tretinoin results in increased expression of EIF2C1 mRNAincreases expression 16140955
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.963712494
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 5.4215276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.6317306315 16712894
MESH:D000505 Alopecia Tretinoin 3.9415955085
MESH:D001169 Arthritis, Experimental Tretinoin 3.3016412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3316292516
MESH:D001249 Asthma Tretinoin 2.4316456186
MESH:D001471 Barrett Esophagus Tretinoin 4.9116935849
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.7411289319 1440618
MESH:D001778 Blood Coagulation Disorders Tretinoin 4.0316206674 16197459
MESH:D001943 Breast Neoplasms Tretinoin 2.2316443354 16166294 16873071
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.2216813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.8816168501
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.887296757 3581430
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 4.8817306315 16507464 15276417
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 4.881917145
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.837296757
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 4.9918572023
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.9916051514 16096774
MESH:D002386 Cataract Tretinoin 3.3017460283
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 12.747505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 12.7412371664
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 12.7419524636 20056578
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.2216129372
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.869022650 19486331
MESH:D002779 Cholestasis Cyclosporine 8.8619486331
MESH:D002822 Choriocarcinoma Tretinoin 5.8816461808
MESH:D002972 Cleft Palate Tretinoin 2.809407595
MESH:D003092 Colitis Tretinoin 4.2617035595
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.838800419 9664655 17551590 14991402 10589399 9125849 9142499 9211117 9224671 16925845
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.3512868966 11298694 18759878 11906362 8156756 2524372 14531868 8970840
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.952952479 3621924
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.049653073 9328219 18692083 8291058 18289764 18648102 16192314 9022650 6679447 7440962 1440618 6482804 11289319
MESH:D004489 Edema, Cardiac Tretinoin 5.1918230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3516569247
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.183581430
MESH:D005124 Eye Abnormalities Tretinoin 3.8716938888 9664655
MESH:D005234 Fatty Liver Cyclosporine 3.2819224547
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.746705139
MESH:D005355 Fibrosis Cyclosporine 10.6212639820 12168785
MESH:D005355 Fibrosis Tretinoin 10.6217994277
MESH:D005833 Genital Neoplasms, Female sodium arsenite 5.3116452187
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.858708960
MESH:D005909 Glioblastoma Tretinoin 3.2417312396
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.507505956
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.4416096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.8816084493
MESH:D006330 Heart Defects, Congenital Tretinoin 3.0714991402 9664655
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.0515720958
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.026705139
MESH:D006689 Hodgkin Disease sodium arsenite 3.5212676792
MESH:D006930 Hyperalgesia Tretinoin 3.5316870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 5.1316778211
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5015034207
MESH:D006973 Hypertension Cyclosporine 2.2110903974
MESH:D007248 Infertility, Male sodium arsenite 3.2415346721 12646999
MESH:D007410 Intestinal Diseases Tretinoin 4.3317994277
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.749022650 8074119
MESH:D007569 Jaw Abnormalities Tretinoin 4.3317551590 15992940
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.1615604871
MESH:D007674 Kidney Diseases Cyclosporine 6.7018776723 10903974 8314463
MESH:D007674 Kidney Diseases sodium arsenite 6.7020008137
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 8.436582329
MESH:D007680 Kidney Neoplasms Cyclosporine 8.4312371664
MESH:D007938 Leukemia Tretinoin 2.9317143497
MESH:D007951 Leukemia, Myeloid Tretinoin 4.1216932348 16482212 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1219850784 16294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3919075265 16823087 16891316 17339181 17217047 17294898 17368321 16788101 16331271 17361223 15748426 9834237 19225113 17649720 12679006 17107899 19642359 17712046 16140955 19029980 17301526 19035177 16766008 17506722 16935935
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.589224671
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4215034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 1.8118397230 16248980
MESH:D008113 Liver Neoplasms sodium arsenite 2.4816712894 15276417
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.751399818 6587162 598648 3712494
MESH:D008171 Lung Diseases sodium arsenite 3.4219095001
MESH:D008175 Lung Neoplasms sodium arsenite 1.9015276417 19931552 17306315 17077188 16712894
MESH:D008527 Medulloblastoma Tretinoin 2.9117453147
MESH:D008545 Melanoma sodium arsenite 3.5119082730 16487513
MESH:D008545 Melanoma Tretinoin 3.5116752155
MESH:D008591 Meningomyelocele Tretinoin 4.9916940565
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.5116801185
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2817596541
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.593581430
MESH:D009369 Neoplasms sodium arsenite 5.6811559025
MESH:D009369 Neoplasms Tretinoin 5.6816946489 16594593
MESH:D009374 Neoplasms, Experimental sodium arsenite 4.2220056578
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.1617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6519348381 18481113
MESH:D009421 Nervous System Malformations Tretinoin 4.289125849
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 13.566679447
MESH:D009436 Neural Tube Defects sodium arsenite 13.5612854658
MESH:D009436 Neural Tube Defects Tretinoin 13.569142499
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.814026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.743988306
MESH:D010051 Ovarian Neoplasms sodium arsenite 5.2115276417 17306315
MESH:D010051 Ovarian Neoplasms Tretinoin 5.2116936753
MESH:D010146 Pain Tretinoin 3.2416870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5715976015
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.047296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.196228378
MESH:D011230 Precancerous Conditions Cyclosporine 3.5912371664
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.2416039940
MESH:D011507 Proteinuria Tretinoin 4.0716636307
MESH:D011565 Psoriasis Cyclosporine 2.3316882103
MESH:D011625 Pterygium Tretinoin 5.4216723453
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.673692021
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.5616116481 16283617
MESH:D012878 Skin Neoplasms sodium arsenite 6.3319524636 18572023
MESH:D012878 Skin Neoplasms Tretinoin 6.3316467112
MESH:D016135 Spinal Dysraphism sodium arsenite 4.1012854658
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 8.177505956 6582329 6587162 1399818 3712494
MESH:D013964 Thyroid Neoplasms Tretinoin 8.1717045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 4.1816051514
MESH:D014376 Tuberculosis Tretinoin 3.4516040207
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.518074119
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 5.5117306315 11723127 16452187 16712894
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 10.7511813266
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 10.7516129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.3316752155
MESH:D014605 Uveitis Cyclosporine 4.711336536
MESH:D014652 Vascular Diseases sodium arsenite 5.0617056641
MESH:D014820 Vitiligo Tretinoin 4.5616761959
MESH:D009396 Wilms Tumor Tretinoin 4.3416287080
MESH:D014985 Xerophthalmia Cyclosporine 5.1617120751
Pathway ID Pathway Name
REACT:12472 Regulatory RNA pathways
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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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