AutismKB 2.0

Annotation Detail for PHKB


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Basic Information Top
Gene Symbol:PHKB ( DKFZp781E15103,FLJ41698 )
Gene Full Name: phosphorylase kinase, beta
Band: 16q12.1
Quick LinksEntrez ID:5257; OMIM: 172490; Uniprot ID:KPBB_HUMAN; ENSEMBL ID: ENSG00000102893; HGNC ID: 8927
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04910Insulin signaling pathway
hsa04020Calcium signaling pathway
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
Desease IDDesease Name
Inherited disorders of carbohydrate metabolism
H00069Glycogen storage disease (GSD)
Genetic disorders
No data
Desease Name
liver glycogenosis caused by Phk deficiency
No data
Desease Name
Phosphorylase kinase deficiency of liver and muscle, autosomal recessive
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of PHKB mRNAaffects expression 17562736
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of PHKB mRNAdecreases expression 15336504
C006253 pirinixic acid pirinixic acid results in decreased expression of PHKB mRNAdecreases expression 18445702
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PHKB mRNAincreases expression 19465110
D014415 Tunicamycin Tunicamycin results in increased expression of PHKB mRNAincreases expression 17127020
D014635 Valproic Acid Valproic Acid results in increased expression of PHKB mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.9014514962 15322242 11752688
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.908875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.2519490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.4718653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.4916434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.4916835633
MESH:D000550 Amblyopia Valproic Acid 5.7517688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.8317497229
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8615238991 19460635 17507914 17688650 17157402 18396377 18558336 20603192 18985861 18177632 18316065 19232924 18775368 18940202 16609825
MESH:D001714 Bipolar Disorder Valproic Acid 3.2120046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.8719483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.8712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.6515746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.658888407
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5216120746 18850075 18670907
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8020734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis pirinixic acid 3.0519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2116354765 12621046 15668235 8697196 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5510048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.5517688650 16575769 8888407
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.5916485898 19420014 16081117 2444490 18071297 10915739 11461765 12392966 19416960 19164858 16177239 15619225 11834606 12594235 16227642 14550746 10774834 18713872 14986274 12153990 15968718 16393943 17562736 12540782 19370779 17906064 19739265 11287661 19085960 11529661 14725611 12705907 16781746 10663392 12958197 11739529 17522070 11743745 16109766 19923254 11421492
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5920420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 6.591733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004421 Dystonia Valproic Acid 4.401851702
MESH:D004487 Edema pirinixic acid 7.6312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.6312711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4215322242 16714409 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3310568697 9294722
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.573659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.4416628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0718234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.876426943 6254150 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.717750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.533659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver pirinixic acid 8.8320131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 8.8314986274 19224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005315 Fetal Diseases Valproic Acid 5.4116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.5118558336 8888407
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D005756 Gastritis Acetaminophen 4.1916983495
OMIM:261750 GLYCOGEN STORAGE DISEASE IXb marker/mechanism
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4711294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly pirinixic acid 9.6919176532 18467677 19772884 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.6915340226 12621046 16120746
MESH:D006849 Hydrocephalus Valproic Acid 5.3317688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5718606429 8697196 15340226 16959395 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3612587719 15629191
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1917596541 16294345
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2115474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2112878042
MESH:D008107 Liver Diseases Acetaminophen 1.6919460945 19784758 12969438 16610002 19014921 16611625 11587558 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5417185352 16871587
MESH:D008113 Liver Neoplasms pirinixic acid 4.5815890375 16377806 20007298
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.5816984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.7817228818
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D008881 Migraine Disorders Valproic Acid 3.4118803445 18765137
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.358888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3117596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009369 Neoplasms pirinixic acid 2.0817405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.3216359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.0511896295 11222880 11118676 11399792
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 11.0520603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.0612752131 11422049
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.5319155313
MESH:D012559 Schizophrenia Valproic Acid 2.1019110320 15737665
MESH:D012640 Seizures Valproic Acid 2.943137016 16876388 11044598 11738929 1511512 17978042 14763951 15475178
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 6.028532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.0216192470
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0219490988
MESH:D013226 Status Epilepticus Valproic Acid 5.0612833885
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D014178 Translocation, Genetic Valproic Acid 5.7517262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.983119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.068888407
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
Pathway ID Pathway Name
KEGG:04020 Calcium signaling pathway
KEGG:04910 Insulin signaling pathway
REACT:474 Metabolism of carbohydrates
Pharmacogenomics Knowledge Base Top
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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