AutismKB 2.0

Annotation Detail for C8A


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:C8A ( - )
Gene Full Name: complement component 8, alpha polypeptide
Band: 1p32.2
Quick LinksEntrez ID:731; OMIM: 120950; Uniprot ID:CO8A_HUMAN; ENSEMBL ID: ENSG00000157131; HGNC ID: 1352
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05146Amoebiasis
hsa05322Systemic lupus erythematosus
hsa04610Complement and coagulation cascades
hsa05020Prion diseases
Pathway IDPathway Name
Signaling in Immune system
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00103Late complement pathway defects
Immune system diseases
Primary immunodeficiency
No data
No data
No data
Desease Name
C8 deficiency, type I
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of C8A mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of C8A mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of C8A mRNAincreases expression 18648102
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of C8A proteinaffects expression 20106945
D016572 Cyclosporine Cyclosporine results in decreased expression of C8A mRNAdecreases expression 20106945
C023036 perfluorooctanoic acid perfluorooctanoic acid results in decreased expression of C8A mRNAdecreases expression 18467677
C023036 perfluorooctanoic acid PPARA protein promotes the reaction [perfluorooctanoic acid results in decreased expression of C8A mRNA]decreases expression|increases reaction 18467677
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of C8A mRNA]affects reaction|decreases expression 19482888
D010634 Phenobarbital Phenobarbital results in decreased expression of C8A mRNAdecreases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of C8A mRNAincreases expression 19136022
C006253 pirinixic acid NCF1 protein promotes the reaction [pirinixic acid results in decreased expression of C8A mRNA]decreases expression|increases reaction 17950772
C006253 pirinixic acid pirinixic acid results in decreased expression of C8A mRNAdecreases expression 17950772
19136022
18467677
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in decreased expression of C8A mRNA]decreases expression|increases reaction 18467677
17950772
D018038 Sodium Selenite Sodium Selenite results in decreased expression of C8A mRNAdecreases expression 18175754
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.726195326
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.863712494
MESH:D018248 Adenoma, Liver Cell Phenobarbital 11.0917620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.0916434500
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.341440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3519483382
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 9.1816705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 9.1816705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 9.183581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 9.1812907637 12619106 21507988
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 9.1820007298 17173139 1701930 20935162 6705139
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.767296757
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 11.956135515
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 11.957505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.9512371664
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.514080065
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 14.279022650 19486331
MESH:D002779 Cholestasis Cyclosporine 14.2719486331
MESH:D002779 Cholestasis pirinixic acid 14.2719176532
MESH:D019457 Chromosome Breakage Sodium Selenite 5.0115894690
OMIM:120950 COMPLEMENT COMPONENT 8, ALPHA SUBUNIT marker/mechanism
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.7718551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.7718551238
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.0612868966 2524372 18759878 8156756 11298694 11906362 14531868 8970840
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.713621924 2952479
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9616285004
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.4418551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.4418551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 9.441440618 9328219 16192314 9653073 6679447 8291058 9022650 18692083 7440962 18289764 11289319 18648102 6482804
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 9.4415131321
MESH:D004421 Dystonia Phenobarbital 4.221851702
MESH:D004487 Edema perfluorooctanoic acid 7.6717259670 12083418
MESH:D004487 Edema pirinixic acid 7.6712083418
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.373659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.193922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.9820417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.726401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.517750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.303659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.153581430
MESH:D005234 Fatty Liver Cyclosporine 8.2519224547
MESH:D005234 Fatty Liver pirinixic acid 8.2520131406 19236843
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.346705139
MESH:D005355 Fibrosis Cyclosporine 3.4012639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.267505956
MESH:D006333 Heart Failure pirinixic acid 2.6520558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.756705139
MESH:D006529 Hepatomegaly perfluorooctanoic acid 16.123609246
MESH:D006529 Hepatomegaly Phenobarbital 16.1216109766
MESH:D006529 Hepatomegaly pirinixic acid 16.1219772884 16221962 19176532 18467677
MESH:D006930 Hyperalgesia perfluorooctanoic acid 4.0112083418
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.2015034207
MESH:D006973 Hypertension Cyclosporine 2.1610903974
MESH:D007249 Inflammation perfluorooctanoic acid 3.1512083418
MESH:D007333 Insulin Resistance pirinixic acid 7.7416306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.7414714311
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.348074119 9022650
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.4418776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 19.2216705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 19.2216705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 19.226582329
MESH:D007680 Kidney Neoplasms Cyclosporine 19.2212371664
MESH:D007984 Leydig Cell Tumor perfluorooctanoic acid 5.518812269
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0021047994
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.319327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Phenobarbital 2.2119363144
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 15.007678174
MESH:D008113 Liver Neoplasms Aflatoxin B1 15.009163691 15890375 2125692 18177683
MESH:D008113 Liver Neoplasms perfluorooctanoic acid 15.0018709148 14757943
MESH:D008113 Liver Neoplasms Phenobarbital 15.0015975961 19812893 19482888 19073162 21047994 8742319
MESH:D008113 Liver Neoplasms pirinixic acid 15.0020007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 15.162876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 15.163712494 6587162 1399818 598648
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 15.168603461
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 15.1618308698 1399818 17172636 2563599 6150874
MESH:D008175 Lung Neoplasms Aflatoxin B1 1.8714755239
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.2814737004
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.7617484760
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.3218551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.327678174 18551238
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.543581430
MESH:D009369 Neoplasms pirinixic acid 2.0317405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4719348381 18481113
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.046679447
MESH:D052556 Niemann-Pick Disease, Type C perfluorooctanoic acid 5.219802331
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 16.2316049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 16.2316049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 16.236482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.343988306
MESH:D010018 Osteomalacia Phenobarbital 4.6517016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5516965848
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.747296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.796228378
MESH:D011230 Precancerous Conditions Cyclosporine 9.5912371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.592563599
MESH:D011297 Prenatal Exposure Delayed Effects perfluorooctanoic acid 4.6817132714
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3618760546
MESH:D019310 Pseudolymphoma Phenobarbital 4.8112752131
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.523692021
MESH:D012640 Seizures 2,4-dinitrotoluene 10.6118551238
MESH:D012640 Seizures 2,6-dinitrotoluene 10.6118551238
MESH:D012640 Seizures Phenobarbital 10.6111442880 16876388 3137016 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.116407741
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.676582329 7505956 6587162 3712494 1399818
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.671399818
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.6916049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.6916049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 8.698074119
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.9610091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.9610091137
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
Pathway ID Pathway Name
KEGG:05146 Amoebiasis
KEGG:04610 Complement and coagulation cascades
KEGG:05020 Prion diseases
REACT:6900 Signaling in Immune system
KEGG:05322 Systemic lupus erythematosus
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA25951
    • No data
    No data
    Releated drug ID Related drug Name
    PA450287magnesium
    Drug Bank Top

    Simple Query:


      (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


    Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved