AutismKB 2.0

Annotation Detail for PELI1


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Basic Information Top
Gene Symbol:PELI1 ( DKFZp686C18116,MGC50990 )
Gene Full Name: pellino homolog 1 (Drosophila)
Band: 2p14
Quick LinksEntrez ID:57162; OMIM: NA; Uniprot ID:PELI1_HUMAN; ENSEMBL ID: ENSG00000197329; HGNC ID: 8827
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
Signaling in Immune system
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C026114 2-xylene 2-xylene results in increased expression of PELI1 mRNAincreases expression 20359517
D000082 Acetaminophen Acetaminophen affects the expression of PELI1 mRNAaffects expression 17562736
D001151 Arsenic Arsenic results in decreased expression of PELI1 mRNAdecreases expression 16835338
D001554 Benzene Benzene results in increased expression of PELI1 mRNAincreases expression 20359517
C006780 bisphenol A bisphenol A results in decreased expression of PELI1 mRNAdecreases expression 20678512
C014347 decitabine [decitabine co-treated with trichostatin A] results in increased expression of PELI1 mRNAaffects cotreatment|increases expression 20678512
C014347 decitabine decitabine results in increased expression of PELI1 mRNAincreases expression 20678512
D004958 Estradiol [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of PELI1 mRNAaffects cotreatment|increases expression 19619570
D004958 Estradiol Estradiol results in increased expression of PELI1 mRNAincreases expression 19619570
C004912 ethylbenzene ethylbenzene results in increased expression of PELI1 mRNAincreases expression 20359517
D008752 Methylene Chloride Methylene Chloride results in increased expression of PELI1 mRNAincreases expression 20359517
C016340 o,p'-DDT o,p'-DDT results in decreased expression of PELI1 mRNAdecreases expression 19371625
D019800 Phenol Phenol results in increased expression of PELI1 mRNAincreases expression 17547211
C006253 pirinixic acid pirinixic acid results in decreased expression of PELI1 mRNAdecreases expression 17426115
D012402 Rotenone Rotenone results in increased expression of PELI1 mRNAincreases expression 19013527
D013749 Tetrachlorodibenzodioxin [Estradiol co-treated with Tetrachlorodibenzodioxin] results in increased expression of PELI1 mRNAaffects cotreatment|increases expression 19619570
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PELI1 mRNAincreases expression 19619570
D014050 Toluene Toluene results in increased expression of PELI1 mRNAincreases expression 20359517
D014241 Trichloroethylene Trichloroethylene results in increased expression of PELI1 mRNAincreases expression 20359517
C012589 trichostatin A [decitabine co-treated with trichostatin A] results in increased expression of PELI1 mRNAaffects cotreatment|increases expression 20678512
C012589 trichostatin A trichostatin A results in increased expression of PELI1 mRNAincreases expression 20678512
D002762 Cholecalciferol Cholecalciferol results in increased expression of PELI1 mRNAincreases expression 17170073
D014810 Vitamin E Vitamin E results in decreased expression of PELI1 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.7915322242 14514962 11752688
MESH:D055371 Acute Lung Injury pirinixic acid 3.0518653653
MESH:D000230 Adenocarcinoma Estradiol 2.0811473722
MESH:D018248 Adenoma, Liver Cell pirinixic acid 9.7016434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.7016835633
MESH:D018246 Adrenocortical Adenoma Arsenic 5.1617306315
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.8911748828
MESH:D000741 Anemia, Aplastic Benzene 4.3214761424 11369114 17661222
MESH:D000799 Angioedema Acetaminophen 3.7910982225
MESH:D020261 Arsenic Poisoning marker/mechanism 16835338
MESH:D020261 Arsenic Poisoning Arsenic 2.8518414634 12569548 16835338 16251483
MESH:D050197 Atherosclerosis Arsenic 3.2112928151 19371607
MESH:D001321 Autistic Disorder Acetaminophen 1.4218445737
MESH:D001327 Autoimmune Diseases Cholecalciferol 4.9716142846
MESH:D001778 Blood Coagulation Disorders pirinixic acid 8.5619483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.5612125929
MESH:D001836 Body Weight Changes 2-xylene 11.927457028
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 11.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7215746008
MESH:D001855 Bone Marrow Diseases Benzene 5.1716183116
MESH:D001859 Bone Neoplasms Phenol 5.1410556009
MESH:D001862 Bone Resorption bisphenol A 3.8011985600
MESH:D001913 Bowen's Disease Phenol 5.7019293009
MESH:D001943 Breast Neoplasms Benzene 3.7417162533 11921183
MESH:D001943 Breast Neoplasms bisphenol A 3.7417123778
MESH:D001943 Breast Neoplasms decitabine 3.7419208741 18320071
MESH:D001943 Breast Neoplasms Estradiol 3.7419861407 17289903 14630087 12948864 16675129 17018787 17261762 18497071
MESH:D001943 Breast Neoplasms Methylene Chloride 3.7415986119
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 3.7420435547
MESH:D001943 Breast Neoplasms Trichloroethylene 3.7415986119
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.4016111702
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 3.8716050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.7416835633
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.5515504454 17687452
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.523084413
MESH:D006528 Carcinoma, Hepatocellular Arsenic 4.5217306315 16507464
MESH:D006528 Carcinoma, Hepatocellular Estradiol 4.5216924424
MESH:D002278 Carcinoma in Situ bisphenol A 4.9317123778
MESH:D002294 Carcinoma, Squamous Cell Arsenic 4.8518922899 15504454 17687452
MESH:D002294 Carcinoma, Squamous Cell decitabine 4.8519215824
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.0218640142
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3316120746 18850075 18670907
MESH:D002318 Cardiovascular Diseases Arsenic 3.4015738583 17938729 19152805
MESH:D002340 Carotid Artery Diseases Arsenic 4.2516973168 18022660
MESH:D002386 Cataract Acetaminophen 2.5410977129
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.7318566989
MESH:D002547 Cerebral Palsy Toluene 5.799294310
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1016835633
MESH:D002779 Cholestasis pirinixic acid 2.7719176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.0816354765 12621046 15668235 15340226 8697196
MESH:D003110 Colonic Neoplasms decitabine 2.3217616700
MESH:D015179 Colorectal Neoplasms decitabine 2.1018981723
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0014669216 17141729
MESH:D019465 Craniofacial Abnormalities Benzene 5.4215643154
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 5.4210048152 15322242 20055451
MESH:D019465 Craniofacial Abnormalities Toluene 5.429294310
MESH:D019465 Craniofacial Abnormalities Vitamin E 5.4219769572
MESH:D003643 Death Toluene 5.616431079
MESH:D003872 Dermatitis Benzene 4.7015902427
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3918249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6517107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.3519279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.1711461765 16485898 15619225 16081117 19739265 17562736 19420014 12958197 10663392 11287661 12594235 16109766 10774834 19370779 11739529 12705907 19164858 17522070 19923254 11421492 11529661 16177239 18713872 14725611 19416960 16781746 2444490 12392966 12153990 17906064 11743745 11834606 14550746 19085960 12540782 16227642 16393943 15968718 14986274 18071297 10915739
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.1720420201
MESH:D056486 Drug-Induced Liver Injury Trichloroethylene 6.177120509
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0419426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7111462148
MESH:C538011 Eales disease Vitamin E 4.659068938
MESH:D004487 Edema pirinixic acid 6.3312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.3312711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.8518230668 16714409 15322242
MESH:D004701 Endocrine Gland Neoplasms decitabine 13.8419294695
MESH:D004701 Endocrine Gland Neoplasms trichostatin A 13.8419294695
MESH:D016889 Endometrial Neoplasms Estradiol 2.9411473722 19148513 18566989
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.9610568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.9611564622
MESH:D005234 Fatty Liver pirinixic acid 2.7020131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.3911858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 2.8920067830
MESH:D005534 Foot Diseases Arsenic 5.506392382
MESH:D005756 Gastritis Acetaminophen 3.6216983495
MESH:D005909 Glioblastoma trichostatin A 3.7918801729
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.5410696789
MESH:D006258 Head and Neck Neoplasms decitabine 3.4419215824
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.4510048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 6.4516080930
MESH:D006333 Heart Failure pirinixic acid 2.5020558911
MESH:D006402 Hematologic Diseases Benzene 4.5916183116
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2711000095
MESH:D006529 Hepatomegaly 2-xylene 14.227457028 7457013
MESH:D006529 Hepatomegaly pirinixic acid 14.2219176532 16221962 18467677 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 14.2212621046 16120746 15340226
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.6816863852 16490937
MESH:D006558 Herpes Genitalis Estradiol 4.9815709030
MESH:D019584 Hot Flashes Estradiol 9.8617088409
MESH:D019584 Hot Flashes Vitamin E 9.8614716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.9916959395 15340226 16354765 8697196 18606429
MESH:D006930 Hyperalgesia Acetaminophen 2.6516870215
MESH:D006943 Hyperglycemia pirinixic acid 3.1220558911
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.3917050553
MESH:D006973 Hypertension Arsenic 8.5716076760 9931084 11953799
MESH:D006973 Hypertension Benzene 8.5717940673
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 8.5718670907 18850075
MESH:D006987 Hypesthesia Arsenic 5.5016093927
MESH:D007248 Infertility, Male decitabine 3.1617581917
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8212878042 12200463
MESH:D007251 Influenza, Human Vitamin E 4.1616624496
MESH:D007333 Insulin Resistance bisphenol A 12.0616393666
MESH:D007333 Insulin Resistance Estradiol 12.0616393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 12.0616306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.2716580747
MESH:D007642 Keratosis Arsenic 4.9316930632 12749816
MESH:D055623 Keratosis, Actinic Phenol 6.3919293009
MESH:D007674 Kidney Diseases Acetaminophen 9.8215629191 12587719
MESH:D007674 Kidney Diseases Estradiol 9.8215618244
MESH:D007674 Kidney Diseases Vitamin E 9.8212488133
MESH:D007680 Kidney Neoplasms Estradiol 2.9215610895
MESH:D007938 Leukemia Benzene 6.5515935818 14694614 17119257 18335105
MESH:D007938 Leukemia decitabine 6.5519235587 18980019
MESH:D007951 Leukemia, Myeloid Benzene 9.5817506065
MESH:D007951 Leukemia, Myeloid decitabine 9.5818454857 19117987 17236224
MESH:D015470 Leukemia, Myeloid, Acute Benzene 6.2719478238
MESH:D015470 Leukemia, Myeloid, Acute decitabine 6.2718704418 17679729 18206229 18460780 19387464 19010910
MESH:D015470 Leukemia, Myeloid, Acute trichostatin A 6.2718206229
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.4118055864
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.5117339181
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 4.8614659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 4.8615474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 4.8612878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 4.8616169303
MESH:D008107 Liver Diseases Acetaminophen 4.0119460945 16610002 19784758 11587558 12969438 19014921 12587719 16611625
MESH:D008107 Liver Diseases Arsenic 4.0111134558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.1817185352 16871587
MESH:D008113 Liver Neoplasms Arsenic 7.2516368122
MESH:D008113 Liver Neoplasms pirinixic acid 7.2516377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.2516984957
MESH:D008114 Liver Neoplasms, Experimental Benzene 9.8012562636
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 9.8012151625
MESH:D008114 Liver Neoplasms, Experimental Trichloroethylene 9.807955063
MESH:D008171 Lung Diseases Vitamin E 3.1316863852
MESH:D017563 Lung Diseases, Interstitial Benzene 4.7514698565
MESH:D008175 Lung Neoplasms Arsenic 6.5517306315 19168569 17976673
MESH:D008175 Lung Neoplasms Benzene 6.5512562636
MESH:D008175 Lung Neoplasms Methylene Chloride 6.5515172992
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 6.5519555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 6.5511062179
MESH:D008223 Lymphoma Benzene 7.6717119257 17584886
MESH:D008223 Lymphoma decitabine 7.6719470736
MESH:D015674 Mammary Neoplasms, Animal Benzene 4.3812562636
MESH:D008325 Mammary Neoplasms, Experimental Benzene 6.0811921183
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.0811807958 17203775 11408345 16891317
MESH:D020149 Manganese Poisoning Estradiol 4.4319453300
MESH:D008545 Melanoma decitabine 3.6917785578 16505122
MESH:D008545 Melanoma trichostatin A 3.6916505122
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5019513568
MESH:D008607 Mental Retardation Toluene 3.639294310
MESH:D019957 Motor Skills Disorders Toluene 5.179294310
MESH:D009101 Multiple Myeloma Benzene 12.0317119195
MESH:D009101 Multiple Myeloma decitabine 12.0318172295
MESH:D009101 Multiple Myeloma trichostatin A 12.0318172295
MESH:D009135 Muscular Diseases pirinixic acid 3.4416239165
MESH:D009190 Myelodysplastic Syndromes decitabine 3.3418608210 19010910 16882708 19157545
MESH:D009203 Myocardial Infarction pirinixic acid 2.1119151258
MESH:D017202 Myocardial Ischemia Arsenic 8.8215371236
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 8.8212213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.0816810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.0816411023
MESH:D009369 Neoplasms decitabine 8.2319116145 19470736 17925555
MESH:D009369 Neoplasms pirinixic acid 8.2317405874
MESH:D009369 Neoplasms Trichloroethylene 8.2311911487
MESH:D009389 Neovascularization, Pathologic Estradiol 3.6717289903
MESH:D009410 Nerve Degeneration Rotenone 3.8315790535 17356569 18619942
MESH:D009421 Nervous System Malformations bisphenol A 15.9916427766 11399458
MESH:D009421 Nervous System Malformations Estradiol 15.9911399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 15.9914600291
MESH:D009436 Neural Tube Defects Arsenic 7.5116620997
MESH:D009436 Neural Tube Defects Benzene 7.5115643154
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8118514411
MESH:D020078 Neurogenic Inflammation Arsenic 4.3117056641
MESH:D009765 Obesity pirinixic acid 1.8020558911
MESH:D009784 Occupational Diseases Benzene 4.1215913788 17178637 16737584 17479406 15727169 15576619 15612468 15935809 17119257
MESH:D010049 Ovarian Diseases bisphenol A 4.9311985600
MESH:D010051 Ovarian Neoplasms Arsenic 14.7917306315
MESH:D010051 Ovarian Neoplasms Benzene 14.7912562636
MESH:D010051 Ovarian Neoplasms decitabine 14.7919331143 19259094
MESH:D010051 Ovarian Neoplasms Estradiol 14.7919401270
MESH:D010051 Ovarian Neoplasms trichostatin A 14.7919331143
MESH:D010146 Pain Acetaminophen 6.8716870215
MESH:D010146 Pain Phenol 6.8717610455
MESH:D010190 Pancreatic Neoplasms decitabine 5.6019294695
MESH:D010190 Pancreatic Neoplasms trichostatin A 5.6019294695
MESH:D010300 Parkinson Disease Rotenone 2.9519232380 15451049 16412576 16140633 11535288 19114014 11445065 18191903 18619942
MESH:D020734 Parkinsonian Disorders Rotenone 4.0215795934 18197244 15927086 15574749
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.1912520081
MESH:D010392 Pemphigus Phenol 6.3916522979 17163923
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.1116093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 4.9316905509 6392382 15371236
MESH:D010864 Pilonidal Sinus Phenol 6.3915622588 19655223
MESH:D011041 Poisoning Phenol 4.658825745
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.4918163543
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 9.3010548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.3011118676 11896295 11399792 11222880
MESH:D055728 Primary Myelofibrosis decitabine 12.2117616702
MESH:D055728 Primary Myelofibrosis trichostatin A 12.2117616702
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 10.3520887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 10.3520887781
MESH:D011471 Prostatic Neoplasms Arsenic 1.9016140617
MESH:D011471 Prostatic Neoplasms bisphenol A 1.9016740699
MESH:D011471 Prostatic Neoplasms Cholecalciferol 1.9017024972
MESH:D011471 Prostatic Neoplasms Estradiol 1.9016740699
MESH:D011471 Prostatic Neoplasms trichostatin A 1.9018798265 19789329
MESH:D011471 Prostatic Neoplasms Vitamin E 1.9015084515
MESH:D011507 Proteinuria Arsenic 3.9421343184
MESH:D011629 Puberty, Precocious bisphenol A 4.7210548101
MESH:D015427 Reperfusion Injury pirinixic acid 2.3519058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.7718990726
MESH:D012208 Rhabdomyosarcoma decitabine 4.3419155313
MESH:D012640 Seizures Toluene 3.686431079 9294310
MESH:D012871 Skin Diseases marker/mechanism 16835338
MESH:D012871 Skin Diseases Arsenic 4.9816702368 17548696 16759981 17453740 6392382 17938729 19834688 16353154 15952646 17050553 18709164
MESH:D012871 Skin Diseases Vitamin E 4.9818709164
MESH:D012878 Skin Neoplasms Arsenic 5.6017976673 16251483 17029826 17050553 15504454 19538983
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.6016192470
MESH:D013088 Spermatocele Phenol 5.5818646496
MESH:D013274 Stomach Neoplasms Benzene 2.7612562636
MESH:D013274 Stomach Neoplasms decitabine 2.7619037991
MESH:D020521 Stroke Vitamin E 3.4716517955
MESH:D019966 Substance-Related Disorders bisphenol A 3.9216684133 16045194
MESH:D013733 Testicular Diseases Toluene 4.8910514026 10048760
MESH:D013953 Thymus Neoplasms Benzene 4.8910850423
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.8512697716
MESH:D013964 Thyroid Neoplasms decitabine 3.2817967635
MESH:D013978 Tibial Fractures Estradiol 4.6319048282
MESH:D014277 Trigeminal Neuralgia Phenol 6.3916527771 10223447
MESH:D001749 Urinary Bladder Neoplasms Arsenic 5.2817306315 19429237 19322015 15987713 17976673 18640142 11144890
MESH:D001749 Urinary Bladder Neoplasms decitabine 5.2817616700 19087683
MESH:D014581 Urticaria Acetaminophen 2.9110982225
MESH:D014591 Uterine Diseases bisphenol A 4.9514652134
MESH:D014594 Uterine Neoplasms Benzene 4.2712562636
MESH:D014604 Uveal Neoplasms decitabine 4.8617785578
MESH:D014652 Vascular Diseases Arsenic 4.6717056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.5412125929
MESH:D014860 Warts Phenol 6.0419122958
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.1915886252
Pathway ID Pathway Name
REACT:6900 Signaling in Immune system
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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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