AutismKB 2.0

Annotation Detail for PYGB


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Basic Information Top
Gene Symbol:PYGB ( MGC9213 )
Gene Full Name: phosphorylase, glycogen; brain
Band: 20p11.21
Quick LinksEntrez ID:5834; OMIM: 138550; Uniprot ID:PYGB_HUMAN; ENSEMBL ID: ENSG00000100994; HGNC ID: 9723
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-5941glycogen degradation II
PWY-5767glycogen degradation III
Pathway IDPathway Name
hsa04910Insulin signaling pathway
hsa00500Starch and sucrose metabolism
Pathway IDPathway Name
Metabolism of carbohydrates
No data
Pathway IDPathway Name
P00026Heterotrimeric G-protein signaling pathway-Gi alpha and Gs alpha mediated pathway
Pathway IDPathway Name
500680Glycogen breakdown (glycogenolysis)
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1943Adenocarcinoma
2066Lung cancer
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C031903 1-UFT protocol PYGB protein results in increased susceptibility to 1-UFT protocolincreases response to substance 16734730
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of PYGB mRNAincreases expression 18648102
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PYGB mRNAaffects expression 16483693
C110904 capecitabine PYGB protein results in increased susceptibility to capecitabineincreases response to substance 16734730
D016572 Cyclosporine Cyclosporine results in increased expression of PYGB mRNAincreases expression 20106945
D004041 Dietary Fats Dietary Fats results in decreased expression of PYGB mRNAdecreases expression 18042831
C025034 doxifluridine PYGB protein results in increased susceptibility to doxifluridineincreases response to substance 16734730
D007657 Ketone Bodies Ketone Bodies results in increased expression of PYGB mRNAincreases expression 16807920
C041786 palm oil palm oil results in decreased expression of PYGB mRNAdecreases expression 18042831
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of PYGB mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of PYGB mRNAincreases expression 19482888
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PYGB mRNAaffects binding|decreases expression|increases activity 19710929
D012643 Selenium Selenium results in increased expression of PYGB mRNAincreases expression 19244175
C017947 sodium arsenite sodium arsenite affects the expression of PYGB mRNAaffects expression 19590694
D014810 Vitamin E Vitamin E results in increased expression of PYGB mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.526195326
MESH:D000138 Acidosis Ammonium Chloride 3.6418287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.1718653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.783712494
MESH:D018248 Adenoma, Liver Cell Phenobarbital 10.4017620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.4016434500
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.8015276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.0017306315 16712894
MESH:D001161 Arteriosclerosis Dietary Fats 3.9615238619
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.121440618 11289319
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.2019483382
MESH:D001943 Breast Neoplasms capecitabine 2.7512972520 18473752
MESH:D001943 Breast Neoplasms Dietary Fats 2.7520435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.0016050911
MESH:D003528 Carcinoma, Adenoid Cystic marker/mechanism 16762588
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.657296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 4.6517173139 20935162 20007298 6705139 1701930
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 4.6515276417 16507464 17306315
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.707296757
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 2.3918572023
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 11.397505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.3912371664
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 11.3920056578 19524636
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.324080065
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 13.6219486331 9022650
MESH:D002779 Cholestasis Cyclosporine 13.6219486331
MESH:D002779 Cholestasis pirinixic acid 13.6219176532
MESH:D003092 Colitis Selenium 3.8517936198
MESH:D015179 Colorectal Neoplasms capecitabine 3.3118448328 18473752
MESH:D003329 Coronary Vasospasm capecitabine 5.8717465463
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9119769572
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.8714531868 12868966 11298694 8156756 8970840 18759878 2524372 11906362
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4518249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.552952479 3621924
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 3.9818692083 9653073 9022650 18648102 18289764 7440962 8291058 16192314 1440618 11289319 6679447 9328219 6482804
MESH:D056486 Drug-Induced Liver Injury Selenium 3.9815131321
MESH:D050171 Dyslipidemias Dietary Fats 3.4918367378
MESH:D004421 Dystonia Phenobarbital 4.061851702
MESH:C538011 Eales disease Vitamin E 4.809068938
MESH:D004487 Edema pirinixic acid 2.5312083418
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.183659116
MESH:D004828 Epilepsies, Partial Phenobarbital 3.973922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.9120417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.596401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.327750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.103659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.123581430
MESH:D005234 Fatty Liver Cyclosporine 13.3819224547
MESH:D005234 Fatty Liver Dietary Fats 13.3817967931 19004024 19551842 18296743
MESH:D005234 Fatty Liver pirinixic acid 13.3819236843 20131406
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.126705139
MESH:D005355 Fibrosis Cyclosporine 8.9412168785 12639820
MESH:D005355 Fibrosis Dietary Fats 8.9418296743
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.7616452187
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.308708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.107505956
MESH:D006330 Heart Defects, Congenital Vitamin E 3.0116080930
MESH:D006333 Heart Failure pirinixic acid 7.0620558911
MESH:D006333 Heart Failure Selenium 7.0617162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5015720958
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.586705139
MESH:D006529 Hepatomegaly Phenobarbital 8.7216109766
MESH:D006529 Hepatomegaly pirinixic acid 8.7219772884 16221962 18467677 19176532
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7216863852 16490937
MESH:D006689 Hodgkin Disease sodium arsenite 3.2012676792
MESH:D019584 Hot Flashes Vitamin E 4.0714716179
MESH:D006937 Hypercholesterolemia Dietary Fats 3.6521332399
MESH:D006943 Hyperglycemia pirinixic acid 3.2320558911
MESH:D006949 Hyperlipidemias Dietary Fats 3.6721332399
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.0115034207
MESH:D006973 Hypertension Cyclosporine 2.1210903974
MESH:D007248 Infertility, Male sodium arsenite 3.0212646999 15346721
MESH:D007249 Inflammation Dietary Fats 2.4620412841
MESH:D007251 Influenza, Human Selenium 11.2916624496
MESH:D007251 Influenza, Human Vitamin E 11.2916624496
MESH:D007333 Insulin Resistance Dietary Fats 7.3611836018 18457598
MESH:D007333 Insulin Resistance pirinixic acid 7.3616306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.129022650 8074119
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5415604871
MESH:D007674 Kidney Diseases Cyclosporine 10.2618776723 10903974 8314463
MESH:D007674 Kidney Diseases sodium arsenite 10.2620008137
MESH:D007674 Kidney Diseases Vitamin E 10.2612488133
MESH:D007676 Kidney Failure, Chronic Selenium 3.9416518626
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.426582329
MESH:D007680 Kidney Neoplasms Cyclosporine 7.4212371664
MESH:D008103 Liver Cirrhosis Dietary Fats 6.7618296743
MESH:D008103 Liver Cirrhosis Phenobarbital 6.7621047994
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.2315034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.3915474484
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.3916169303
MESH:D008107 Liver Diseases Phenobarbital 2.1819363144
MESH:D008113 Liver Neoplasms Phenobarbital 7.5521047994 15975961 19482888 19073162 19812893 8742319
MESH:D008113 Liver Neoplasms pirinixic acid 7.5515890375 16377806 20007298
MESH:D008113 Liver Neoplasms sodium arsenite 7.5516712894 15276417
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.061399818 3712494 598648 6587162
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.061399818 18308698 17172636 2563599 6150874
MESH:D008171 Lung Diseases sodium arsenite 7.5619095001
MESH:D008171 Lung Diseases Vitamin E 7.5616863852
MESH:D008175 Lung Neoplasms sodium arsenite 2.5619931552 17306315 15276417 16712894 17077188
MESH:D008175 Lung Neoplasms Vitamin E 2.5611062179
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.7915318939
MESH:D008545 Melanoma sodium arsenite 2.0416487513 19082730
MESH:D008654 Mesothelioma Selenium 2.8115107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.8816801185
MESH:D009135 Muscular Diseases pirinixic acid 3.5816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9916411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.5617484760
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 6.343581430
MESH:D009362 Neoplasm Metastasis capecitabine 6.3412972520
MESH:D009369 Neoplasms capecitabine 8.5916374040
MESH:D009369 Neoplasms pirinixic acid 8.5917405874
MESH:D009369 Neoplasms sodium arsenite 8.5911559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.7420056578
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5417954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3319348381 18481113
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.376679447
MESH:D009436 Neural Tube Defects sodium arsenite 7.3712854658
MESH:D009765 Obesity Dietary Fats 4.4717217161 21332399 18457598 11836018 19632207 16723640 18674790 20132043 20518802
MESH:D009765 Obesity pirinixic acid 4.4720558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.476482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.123988306
MESH:D010018 Osteomalacia Phenobarbital 4.4517016548
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.4515276417 17306315
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5116965848
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.557296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.576228378
MESH:D010954 Plasmacytoma Selenium 4.9915087411
MESH:D011230 Precancerous Conditions Cyclosporine 9.1312371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.132563599
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.3016039940
MESH:D011471 Prostatic Neoplasms Vitamin E 3.3015084515
MESH:D019310 Pseudolymphoma Phenobarbital 4.5912752131
MESH:D011565 Psoriasis Cyclosporine 2.2416882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4119058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.413692021
MESH:D012468 Salivary Gland Neoplasms marker/mechanism 16762588
MESH:D012640 Seizures Phenobarbital 2.7316876388 3137016 4039156 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 4.906407741
MESH:D012871 Skin Diseases Vitamin E 2.4518709164
MESH:D012878 Skin Neoplasms sodium arsenite 2.7218572023 19524636
MESH:D016135 Spinal Dysraphism sodium arsenite 3.8412854658
MESH:D020521 Stroke Vitamin E 3.5616517955
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.286587162 1399818 6582329 3712494 7505956
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.281399818
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.158074119
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 5.1511723127 16712894 16452187 17306315
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.8211813266
MESH:D014605 Uveitis Cyclosporine 4.081336536
MESH:D014652 Vascular Diseases sodium arsenite 4.5117056641
MESH:D015430 Weight Gain Dietary Fats 3.7916723640
MESH:D014985 Xerophthalmia Cyclosporine 4.5417120751
Pathway ID Pathway Name
KEGG:04910 Insulin signaling pathway
REACT:474 Metabolism of carbohydrates
KEGG:00500 Starch and sucrose metabolism
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00114 - Pyridoxal Phosphate Dietary supplement;Micronutrient;Vitamin B Complex
No data
No data
No data

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


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