AutismKB 2.0

Annotation Detail for CFP


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Basic Information Top
Gene Symbol:CFP ( BFD,PFC,PFD,PROPERDIN )
Gene Full Name: complement factor properdin
Band: Xp11.23
Quick LinksEntrez ID:5199; OMIM: 300383; Uniprot ID:PROP_HUMAN; ENSEMBL ID: ENSG00000126759; HGNC ID: 8864
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
H00104Alternative complement pathway component defects
Immune system diseases
Primary immunodeficiency
No data
No data
No data
Desease Name
Properdin deficiency, X-linked
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of CFP mRNAaffects expression 17562736
D001554 Benzene Benzene results in increased expression of CFP mRNAincreases expression 15120971
15122651
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of CFP mRNAincreases expression 20064835
D020111 Chlorodiphenyl (54% Chlorine) Chlorodiphenyl (54% Chlorine) results in increased expression of CFP mRNAincreases expression 18178546
D004041 Dietary Fats Dietary Fats results in decreased expression of CFP mRNAdecreases expression 18042831
D004041 Dietary Fats Dietary Fats results in increased expression of CFP mRNAincreases expression 15238619
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of CFP mRNAincreases expression 12072388
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of CFP mRNAincreases expression 15576828
17557909
C056933 fumonisin B1 fumonisin B1 results in increased expression of CFP mRNAincreases expression 16221962
D008070 Lipopolysaccharides CFP gene mutant form inhibits the reaction [Lipopolysaccharides results in increased expression of C3 protein]decreases reaction|increases expression 17916747
C041786 palm oil palm oil results in decreased expression of CFP mRNAdecreases expression 18042831
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of CFP mRNA]affects reaction|decreases expression 19482888
D010634 Phenobarbital Phenobarbital results in decreased expression of CFP mRNAdecreases expression 19482888
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of CFP mRNAdecreases expression 15652763
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of CFP mRNAincreases expression 16267337
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 8.956195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.9515322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D055371 Acute Lung Injury Lipopolysaccharides 4.1811850527 18653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.2820127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.2814692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.736695378
MESH:D018248 Adenoma, Liver Cell Phenobarbital 10.7417620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.7416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D000741 Anemia, Aplastic Benzene 4.4817661222 14761424 11369114
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2519183758
MESH:D001161 Arteriosclerosis Dietary Fats 10.5015238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 10.5011256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D001855 Bone Marrow Diseases Benzene 5.4516183116
MESH:D001943 Breast Neoplasms Benzene 1.9711921183 17162533
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9720146248 17474063
MESH:D001943 Breast Neoplasms Dietary Fats 1.9720435547
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.933084413
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 2.9320007298 17173139 1701930 6705139 20935162
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0820419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4416120746 18670907 18850075
MESH:D002386 Cataract Acetaminophen 2.6610977129
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.434080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis Ethinyl Estradiol 2.9815861022 17681005 11677210 17110522 16919318 17333356 16105132
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1515340226 16354765 12621046 15668235 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1817141729 14669216
MESH:D019465 Craniofacial Abnormalities Benzene 2.7115643154
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.7110048152 20055451 15322242
MESH:D003872 Dermatitis Benzene 4.9415902427
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.3512705907 10915739 16177239 10663392 12958197 12540782 14725611 12594235 16781746 19164858 11834606 17906064 16227642 12153990 17522070 19420014 11421492 19739265 16109766 11287661 19416960 15619225 19085960 11743745 18071297 11739529 11461765 11529661 14986274 2444490 16081117 14550746 16485898 19923254 15968718 18713872 10774834 17562736 12392966 19370779 16393943
MESH:D056486 Drug-Induced Liver Injury Chlorodiphenyl (54% Chlorine) 9.3517851650
MESH:D056486 Drug-Induced Liver Injury fumonisin B1 9.3516221962
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.3520420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D050171 Dyslipidemias Dietary Fats 3.5518367378
MESH:D004421 Dystonia Phenobarbital 4.151851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1216714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3512538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1510568697 9294722
MESH:D019446 Endotoxemia Lipopolysaccharides 4.5917637181 15821434 15328337
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.283659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.093922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.9520417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.676401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.437750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.213659116
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0416530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver Dietary Fats 8.1918296743 17967931 19551842 19004024
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.1915345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D005334 Fever Lipopolysaccharides 4.1411852909 9205823
MESH:D005355 Fibrosis Dietary Fats 9.2218296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.2220067830
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.6720471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.6711294989 10048152
MESH:D006402 Hematologic Diseases Benzene 4.8016183116
MESH:D006463 Hemolytic-Uremic Syndrome Lipopolysaccharides 4.5216366002
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly fumonisin B1 15.6216221962
MESH:D006529 Hepatomegaly Phenobarbital 15.6216109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 15.6215340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.268697196 16354765 15340226 18606429 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.7321332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.7621332399
MESH:D006973 Hypertension Benzene 5.4717940673
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.4718670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5717937319
MESH:D007249 Inflammation Dietary Fats 8.7520412841
MESH:D007249 Inflammation Lipopolysaccharides 8.759205823 17963957 17237260 17255318 12878042
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.7512878042 12200463
MESH:D007333 Insulin Resistance Dietary Fats 3.1918457598 11836018
MESH:D019189 Iron Metabolism Disorders Lipopolysaccharides 4.7817255318
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2712587719 15629191
MESH:D007938 Leukemia Benzene 3.4515935818 14694614 17119257 18335105
MESH:D007951 Leukemia, Myeloid Benzene 4.4617506065
MESH:D015470 Leukemia, Myeloid, Acute Benzene 2.7219478238
MESH:D007970 Leukopenia Lipopolysaccharides 4.8915821434
MESH:D008103 Liver Cirrhosis Dietary Fats 6.9018296743
MESH:D008103 Liver Cirrhosis Phenobarbital 6.9021047994
MESH:D008106 Liver Cirrhosis, Experimental Lipopolysaccharides 2.5112878042
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.5112878042
MESH:D008107 Liver Diseases Acetaminophen 4.0419014921 12587719 19460945 16611625 12969438 19784758 11587558 16610002
MESH:D008107 Liver Diseases Phenobarbital 4.0419363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3716871587 17185352
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.6620195826 21137059
MESH:D008113 Liver Neoplasms Phenobarbital 7.6619812893 19482888 15975961 19073162 21047994 8742319
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.6616984957
MESH:D008114 Liver Neoplasms, Experimental Benzene 10.3912562636
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 10.3918308698 1399818 2563599 17172636 6150874
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.3912151625
MESH:D017563 Lung Diseases, Interstitial Benzene 5.0214698565
MESH:D055370 Lung Injury Lipopolysaccharides 4.1821114838
MESH:D008175 Lung Neoplasms Benzene 3.5112562636
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.516695378 18816296 20869020 20464547 17053015 18569708 20135361 20064080 18520028
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5119555203 11884234
MESH:D008223 Lymphoma Benzene 3.8317119257 17584886
MESH:D015674 Mammary Neoplasms, Animal Benzene 4.6412562636
MESH:D008325 Mammary Neoplasms, Experimental Benzene 3.3911921183
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D008585 Meningitis, Meningococcal marker/mechanism 8530058 10909851
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3016381670
MESH:D009101 Multiple Myeloma Benzene 3.7617119195
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.6717484760
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2311141357
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3714600291
MESH:D009436 Neural Tube Defects Benzene 3.7615643154
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9918514411
MESH:D009765 Obesity Dietary Fats 2.3120132043 17217161 11836018 20518802 18457598 19632207 16723640 21332399 18674790
MESH:D009784 Occupational Diseases Benzene 4.3115576619 17178637 15935809 17119257 15612468 17479406 15913788 16737584 15727169
MESH:D010018 Osteomalacia Phenobarbital 4.5617016548
MESH:D010051 Ovarian Neoplasms Benzene 3.0012562636
MESH:D010146 Pain Acetaminophen 2.5016870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5316965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D011014 Pneumonia Lipopolysaccharides 4.7511605937 12224865
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.752563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3811399792 11896295 11222880 11118676
MESH:C537241 Properdin deficiency, X-linked marker/mechanism 8530058 10909851
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9517292933
MESH:D011537 Pruritus Ethinyl Estradiol 3.5116919318 15861022
MESH:D019310 Pseudolymphoma Phenobarbital 4.7112752131
MESH:D012130 Respiratory Hypersensitivity Lipopolysaccharides 3.8210835634
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012640 Seizures Phenobarbital 2.7811442880 3137016 16876388 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.026407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.6719755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.6716192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1616709447
MESH:D013274 Stomach Neoplasms Benzene 2.6012562636
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.602093021 20155912
MESH:D013921 Thrombocytopenia Lipopolysaccharides 4.3015821434
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013953 Thymus Neoplasms Benzene 5.1510850423
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.161399818
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2217053015
MESH:D014581 Urticaria Acetaminophen 3.1210982225
MESH:D014594 Uterine Neoplasms Benzene 10.1212562636
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 10.1214692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
MESH:D015430 Weight Gain Dietary Fats 3.8616723640
Pathway ID Pathway Name
REACT:6900 Signaling in Immune system
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33206
    • No data
    Releated disease ID Related disease Name
    PA443560Breast Neoplasms
    Releated drug ID Related drug Name
    PA450287magnesium
    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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