AutismKB 2.0

Annotation Detail for PAFAH1B2


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Basic Information Top
Gene Symbol:PAFAH1B2 ( - )
Gene Full Name: platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)
Band: 11q23
Quick LinksEntrez ID:5049; OMIM: 602508; Uniprot ID:PA1B2_HUMAN; ENSEMBL ID: ENSG00000168092; HGNC ID: 8575
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00565Ether lipid metabolism
hsa01100Metabolic pathways
No data
Pathway IDPathway Name
200114Lissencephaly gene (LIS1) in neuronal migration and development
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1706Thrombophilia
Desease Name
protein quantitative trait loci
Desease Name
Protein quantitative trait loci
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PAFAH1B2 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of PAFAH1B2 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PAFAH1B2 mRNAaffects expression 16483693
C015001 arsenite arsenite results in increased expression of PAFAH1B2 mRNAincreases expression 18191166
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PAFAH1B2 mRNAaffects expression 17555576
C030667 methylazoxymethanol methylazoxymethanol results in increased expression of PAFAH1B2 mRNAincreases expression 17107856
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in increased expression of PAFAH1B2 mRNAincreases expression 17616710
D010672 Phenytoin Phenytoin results in decreased expression of PAFAH1B2 mRNAdecreases expression 15136057
C006253 pirinixic acid pirinixic acid results in increased expression of PAFAH1B2 mRNAincreases expression 17950772
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in increased expression of PAFAH1B2 mRNA]increases expression|increases reaction 17950772
D013629 Tamoxifen Tamoxifen affects the expression of PAFAH1B2 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PAFAH1B2 proteinincreases expression 16548065
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.7614745880
MESH:D000014 Abnormalities, Drug-Induced Phenytoin 9.336195326 8986270 9118846 10563481 3425630 9677735
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.3315322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.2718653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8414692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.5616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.5616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7415885639
MESH:D050197 Atherosclerosis Phenytoin 4.0015136057
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.2419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.2412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9517049068 18997820 17893378 18821012 19115204 19289846 19189212 19244106 11161223 19155303 21138602 17242785 18855134 18425577 19011961 18629630 20544844 20859285 19288272 16873071 19189210 16273361 19142967 16818667 15565566 18984771 20390343 20135344 18815881 20005174 16202921 19200415 19084267 20065188 19410462 19066611 18351453 21152245 19487384 17440819 19221464 19103187 17261762 19059307 15668708
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9520435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.6819066611
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.6316705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.633084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.6316924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7517572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4416120746 18670907 18850075
MESH:D002386 Cataract Acetaminophen 2.6610977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.866135515
MESH:D002493 Central Nervous System Diseases Phenytoin 5.474080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.0917110522 17681005 15861022 16105132 17333356 11677210 16919318
MESH:D002779 Cholestasis pirinixic acid 8.0919176532
OMIM:601042 CHOREOATHETOSIS/SPASTICITY, EPISODIC Phenytoin 6.0611748493
MESH:D002971 Cleft Lip Phenytoin 4.222227380
MESH:D002972 Cleft Palate Phenytoin 6.3410789828 1687470 3877104 2227380 6862529 6856622
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.3416354765 8697196 15668235 15340226 12621046
MESH:D003103 Coloboma Phenytoin 5.299212184
MESH:D003110 Colonic Neoplasms arsenite 2.6015037631
MESH:D000013 Congenital Abnormalities Phenytoin 9.8010627286
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 9.8014669216 17141729
MESH:D019465 Craniofacial Abnormalities Phenytoin 2.888986270 19952982 9212184
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.8810048152 20055451 15322242
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1918551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5419031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4818249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6019279558
OMIM:607208 DRAVET SYNDROME Phenytoin 5.5611748493
MESH:D003875 Drug Eruptions Phenytoin 5.6815024534
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.3318551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.3319370779 11739529 10774834 17906064 19164858 11743745 14550746 15968718 14986274 10915739 16227642 14725611 18713872 11421492 11834606 12705907 12153990 16781746 12594235 18071297 19420014 19739265 16393943 11287661 15619225 16109766 12392966 16177239 10663392 17522070 16485898 19416960 2444490 11529661 12540782 16081117 17562736 19085960 19923254 11461765 12958197
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.3320420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D004487 Edema pirinixic acid 7.0012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.0011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 16.4212538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Phenytoin 16.4217654737
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 16.4219031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1316202921 19155303 20544844 17893378
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.159294722 10568697
MESH:D004816 Epidermal Necrolysis, Toxic Phenytoin 5.3620235791
MESH:D004820 Epidermolysis Bullosa Phenytoin 6.456251365 1399206
MESH:D004828 Epilepsies, Partial Phenytoin 5.1317116037 11558140
MESH:D004827 Epilepsy Phenytoin 4.00821787 20417680 11434505
MESH:D017029 Epilepsy, Complex Partial Phenytoin 5.477750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenytoin 5.263659116
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.8015623463 15547733 15547721 15264214 16510608 15878914 15150132 16805852 16704527
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver arsenite 19.9918296743
MESH:D005234 Fatty Liver Ethinyl Estradiol 19.9915345470
MESH:D005234 Fatty Liver pirinixic acid 19.9920131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 19.9914986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3116709447
MESH:D005313 Fetal Death Phenytoin 11.3310627286
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 11.3311858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.7214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.3819069698
MESH:D005355 Fibrosis arsenite 9.4118296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.4120067830
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D005885 Gingival Hyperplasia Phenytoin 5.869029455
MESH:D019214 Gingival Overgrowth Phenytoin 6.4514659971 16390469
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4010048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6220558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly pirinixic acid 8.8519772884 19176532 16221962 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.8515340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2615340226 16959395 18606429 16354765 8697196
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3120558911
MESH:D020138 Hyperhomocysteinemia Phenytoin 4.7910459572
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9518850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5717937319
MESH:D007249 Inflammation Tamoxifen 5.1119457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1112200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7216306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2715629191 12587719
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.7816705839
MESH:D007680 Kidney Neoplasms Tamoxifen 7.7818625569
MESH:D008064 Lipidoses Tamoxifen 3.2515342952 17567588
MESH:D008103 Liver Cirrhosis arsenite 3.4918296743
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4615474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.4618564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4612878042
MESH:D008107 Liver Diseases Acetaminophen 4.4219014921 12969438 19460945 12587719 19784758 11587558 16610002 16611625
MESH:D008107 Liver Diseases Phenytoin 4.4214986274
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3716871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 11.077678174
MESH:D008113 Liver Neoplasms pirinixic acid 11.0716377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tamoxifen 11.0716684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.0716984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.012876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0112151625
MESH:D008175 Lung Neoplasms arsenite 3.5316809336
MESH:D008175 Lung Neoplasms Tamoxifen 3.5318625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5319555203 11884234
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.9519428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7114580682 16827153 11731420 19196723 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 4.7619453300
MESH:D008545 Melanoma Tamoxifen 1.9019393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.3815990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D008607 Mental Retardation Phenytoin 3.719212184
MESH:D009135 Muscular Diseases pirinixic acid 3.6816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1919151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0516411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenytoin 5.7217484760
MESH:D009224 Myotonia Congenita Phenytoin 5.601896199
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.0518551238 7678174
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5919393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5519410462
MESH:D009369 Neoplasms pirinixic acid 2.0117405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.2219189210 19196722 19200415
MESH:D009389 Neovascularization, Pathologic arsenite 4.6115738583
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3714600291
MESH:D009436 Neural Tube Defects Phenytoin 4.219118846
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9918514411
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5616049721
MESH:D010018 Osteomalacia Phenytoin 5.6017016548
MESH:D010146 Pain Acetaminophen 7.3716870215
MESH:D010146 Pain Phenytoin 7.3715215642
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D017689 Polydactyly Phenytoin 5.179212184
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.3811399792 11222880 11896295 11118676
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1215067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.5115861022 16919318
MESH:D019310 Pseudolymphoma Phenytoin 5.7612752131 1419762 8603615
MESH:D015427 Reperfusion Injury pirinixic acid 2.4519058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012640 Seizures 2,6-dinitrotoluene 6.6218551238
MESH:D012640 Seizures Phenytoin 6.6216876388 10029267 19919933 15946322 3691417 9844417 3137016 11044598
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.3016709447
MESH:D013088 Spermatocele Tamoxifen 12.3016709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.2319457130
MESH:D013262 Stevens-Johnson Syndrome Phenytoin 5.3320235791
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.3317575124 12958204
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.2016049721
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.208653321 16712894 17572228
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.5110091137
MESH:D014581 Urticaria Acetaminophen 3.1210982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4614692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
Pathway ID Pathway Name
KEGG:00565 Ether lipid metabolism
KEGG:01100 Metabolic pathways
Pharmacogenomics Knowledge Base Top
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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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