AutismKB 2.0

Annotation Detail for RYR1


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Basic Information Top
Gene Symbol:RYR1 ( CCO,MHS,MHS1,RYDR,RYR,SKRR )
Gene Full Name: ryanodine receptor 1 (skeletal)
Band: 19q13.2
Quick LinksEntrez ID:6261; OMIM: 180901; Uniprot ID:RYR1_HUMAN; ENSEMBL ID: ENSG00000196218; HGNC ID: 10483
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04020Calcium signaling pathway
hsa04730Long-term depression
No data
No data
Pathway IDPathway Name
P04378Beta2 adrenergic receptor signaling pathway
P04377Beta1 adrenergic receptor signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1750Endocrine system disease
1832Congenital abnormality
1934Cancer
1982Myopathy
1849Myopathies, Nemaline
Desease Name
Adult onset multi/minicore myopathy
fetal akinesia
malignant hyperthermia
cores and rods is associated
No data
Desease Name
Neuromuscular disease, congenital, with uniform type 1 fiber
Minicore myopathy with external ophthalmoplegia
Central core disease
Malignant hyperthermia susceptibility 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C032904 2,2',3,5',6-pentachlorobiphenyl 2,2',3,5',6-pentachlorobiphenyl results in increased activity of RYR1 proteinincreases activity 16411661
C010498 2,3,6,2',3',6'-hexachlorobiphenyl 2,3,6,2',3',6'-hexachlorobiphenyl results in increased activity of RYR1 proteinincreases activity 16411661
C009828 2,4,5,2',5'-pentachlorobiphenyl 2,4,5,2',5'-pentachlorobiphenyl results in increased activity of RYR1 proteinincreases activity 16411661
C009407 2,5,2',5'-tetrachlorobiphenyl 2,5,2',5'-tetrachlorobiphenyl results in increased activity of RYR1 proteinincreases activity 16411661
D000082 Acetaminophen Acetaminophen affects the expression of RYR1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of RYR1 mRNAaffects expression 16483693
D002110 Caffeine Caffeine results in increased activity of RYR1 proteinincreases activity 16484216
D002110 Caffeine TRPC3 protein affects the reaction [Caffeine results in increased activity of RYR1 protein]affects reaction|increases activity 16484216
D002118 Calcium Calcium affects the folding of [CALM1 protein binds to RYR1 protein modified form]affects binding|affects folding 15381065
D002118 Calcium Calcium affects the reaction [CALM1 protein binds to and affects the activity of RYR1 protein]affects activity|affects binding|affects reaction 15381065
D002118 Calcium Calcium affects the reaction [CALM1 protein binds to and affects the activity of RYR1 protein]affects activity|affects binding|affects reaction 15628869
D002118 Calcium Calcium affects the reaction [CALM1 protein modified form binds to and affects the activity of RYR1 protein]affects activity|affects binding|affects reaction 15628869
D002118 Calcium Calcium results in increased activity of RYR1 proteinincreases activity 15326217
C073316 carvacrol carvacrol results in increased activity of RYR1 proteinincreases activity 17641978
D020111 Chlorodiphenyl (54% Chlorine) Chlorodiphenyl (54% Chlorine) results in increased expression of RYR1 proteinincreases expression 16309888
C023036 perfluorooctanoic acid perfluorooctanoic acid results in decreased expression of RYR1 mRNAdecreases expression 16221955
D020849 Raloxifene Raloxifene affects the expression of RYR1 mRNAaffects expression 14699072
D012430 Ruthenium Red Ruthenium Red results in decreased activity of RYR1 proteindecreases activity 15326217
D012433 Ryanodine Triclosan promotes the reaction [Ryanodine binds to RYR1 protein]affects binding|increases reaction 18795164
D012433 Ryanodine Ryanodine results in decreased activity of RYR1 proteindecreases activity 15326217
D012433 Ryanodine Ryanodine results in increased activity of RYR1 proteinincreases activity 15326217
D020123 Sirolimus Sirolimus inhibits the reaction [FKBP1A protein binds to RYR1 protein]affects binding|decreases reaction 16411661
D016559 Tacrolimus Tacrolimus inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of RYR1 protein]decreases reaction|increases expression 18172886
D016559 Tacrolimus Tacrolimus inhibits the reaction [FKBP1A protein binds to RYR1 protein]affects binding|decreases reaction 16411661
D013629 Tamoxifen Tamoxifen affects the expression of RYR1 mRNAaffects expression 14699072
C020806 tetrabromobisphenol A tetrabromobisphenol A results in increased activity of RYR1 proteinincreases activity 18329244
C020806 tetrabromobisphenol A Tetracaine inhibits the reaction [tetrabromobisphenol A results in increased activity of RYR1 protein]decreases reaction|increases activity 18329244
D013748 Tetracaine Tetracaine inhibits the reaction [tetrabromobisphenol A results in increased activity of RYR1 protein]decreases reaction|increases activity 18329244
D013749 Tetrachlorodibenzodioxin Tacrolimus inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of RYR1 protein]decreases reaction|increases expression 18172886
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of RYR1 proteinincreases expression 18172886
D013943 Thymol Thymol results in increased activity of RYR1 proteinincreases activity 17641978
D014260 Triclosan Triclosan promotes the reaction [Ryanodine binds to RYR1 protein]affects binding|increases reaction 18795164
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.4214745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 2.7211752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.4318287403
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.2516835633
MESH:D000419 Albuminuria Raloxifene 4.4717451421 17308373
MESH:D000544 Alzheimer Disease Raloxifene 2.5115800139
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.8311748828
MESH:D000799 Angioedema Acetaminophen 3.7110982225
MESH:D001321 Autistic Disorder Acetaminophen 2.2918445737
MESH:D001321 Autistic Disorder Sirolimus 2.2921115397
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 2.9212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.6815746008
MESH:D001930 Brain Injuries Raloxifene 4.3416580743
MESH:D001943 Breast Neoplasms Raloxifene 1.8816912660 17242785 16837676 15758505 15572757 17440819 17893378 15775269 17595753 17952589 17049068 17261762
MESH:D001943 Breast Neoplasms Tamoxifen 1.8818984771 19011961 17049068 20544844 19066611 19200415 19142967 11161223 17440819 15668708 19244106 19084267 16818667 18629630 19103187 19221464 18997820 20859285 18425577 15565566 21138602 16873071 20065188 18815881 17261762 19155303 20005174 19189212 16273361 19189210 18821012 20135344 18351453 17893378 20390343 21152245 18855134 19115204 19410462 19288272 17242785 19487384 19059307 19289846 16202921
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8820435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.6916835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.3819066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.593084413
MESH:D006528 Carcinoma, Hepatocellular Sirolimus 4.5919335982
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.5916924424
MESH:D002294 Carcinoma, Squamous Cell Sirolimus 3.5319435901
MESH:D002295 Carcinoma, Transitional Cell Raloxifene 9.1117572228
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 9.1117572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3018850075 16120746 18670907
MESH:D002318 Cardiovascular Diseases Raloxifene 7.6815775269
MESH:D002318 Cardiovascular Diseases Tacrolimus 7.6817703430
MESH:D002386 Cataract Acetaminophen 2.5110977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.0516354765 15668235 8697196 15340226 12621046
MESH:D003072 Cognition Disorders Raloxifene 4.4915800139
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 9.1714669216 17141729
MESH:D000013 Congenital Abnormalities Triclosan 9.1719283420
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2510048152 15322242 20055451
MESH:D003711 Demyelinating Diseases Tamoxifen 4.2319031437
MESH:D003865 Depressive Disorder, Major Raloxifene 4.0517474826
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6417107852
MESH:D003928 Diabetic Nephropathies Raloxifene 8.6617451421 15920148 17308373
MESH:D003928 Diabetic Nephropathies Tamoxifen 8.6619279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.0212392966 16227642 11529661 18071297 19370779 18713872 12540782 19416960 11739529 12705907 19420014 14725611 16109766 11461765 16177239 19739265 11743745 10663392 16393943 17906064 10774834 12153990 17562736 16781746 14986274 17522070 16081117 11421492 15619225 12958197 14550746 11834606 16485898 10915739 19164858 11287661 2444490 19085960 12594235 15968718 19923254
MESH:D056486 Drug-Induced Liver Injury Chlorodiphenyl (54% Chlorine) 6.0217851650
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.0220420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 3.9719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.6611462148
MESH:D004381 Duodenal Ulcer Tacrolimus 5.0117202747
MESH:D004487 Edema perfluorooctanoic acid 10.8812083418 17259670
MESH:D004487 Edema Raloxifene 10.8815860553
MESH:D004487 Edema Tetrachlorodibenzodioxin 10.8812711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.7718230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Raloxifene 8.8215845917
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 8.8219031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 2.9617893378 16202921 20544844 19155303
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.9110568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.9111564622
MESH:D005234 Fatty Liver Raloxifene 7.5917473493
MESH:D005234 Fatty Liver Tamoxifen 7.5919224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.1616709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.3311858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.4014745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.0519069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 2.8220067830
MESH:D005756 Gastritis Acetaminophen 3.5516983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.4710696789
MESH:D006086 Graft vs Host Disease Tacrolimus 5.7516376943
MESH:D006130 Growth Disorders Tacrolimus 4.8311041285
MESH:D006258 Head and Neck Neoplasms Sirolimus 4.3719435901
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.2610048152 11294989
MESH:D006331 Heart Diseases Raloxifene 3.4411110106
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2111000095
MESH:D006505 Hepatitis Caffeine 4.8511394713
MESH:D006529 Hepatomegaly perfluorooctanoic acid 8.233609246
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.2315340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 3.9216354765 15340226 16959395 8697196 18606429
MESH:D006930 Hyperalgesia Acetaminophen 7.5116870215
MESH:D006930 Hyperalgesia perfluorooctanoic acid 7.5112083418
MESH:D006973 Hypertension Raloxifene 5.0617577099 15787275
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.0618670907 18850075
MESH:D006984 Hypertrophy Sirolimus 5.1119211884
MESH:C537153 Hypomagnesemia primary Tacrolimus 6.0211041285
MESH:D007022 Hypotension Tacrolimus 4.9911041285
MESH:D007248 Infertility, Male Triclosan 4.3320821571
MESH:D007249 Inflammation perfluorooctanoic acid 11.4912083418
MESH:D007249 Inflammation Tamoxifen 11.4919457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 11.4912200463 12878042
MESH:D007249 Inflammation Triclosan 11.499584910 20507366
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.2116580747
MESH:D007674 Kidney Diseases Acetaminophen 6.2612587719 15629191
MESH:D007674 Kidney Diseases Tacrolimus 6.2611041285
MESH:D007680 Kidney Neoplasms Tamoxifen 2.9418625569
MESH:D007683 Kidney Tubular Necrosis, Acute Calcium 4.9216316344
MESH:D007889 Leiomyoma Raloxifene 4.3716973256
MESH:D007984 Leydig Cell Tumor perfluorooctanoic acid 5.108812269
MESH:D008064 Lipidoses Tamoxifen 3.0617567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental Sirolimus 3.5317050028
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.5318564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5312878042
MESH:D008107 Liver Diseases Acetaminophen 1.6019784758 12969438 12587719 16611625 16610002 19460945 11587558 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.1216871587 17185352
MESH:D008113 Liver Neoplasms perfluorooctanoic acid 7.1918709148 14757943
MESH:D008113 Liver Neoplasms Tamoxifen 7.1916684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.1916984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.0312151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.2118625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2111884234 19555203
MESH:D008305 Malignant Hyperthermia marker/mechanism 14708096 14570802
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.6319428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.3011731420 16827153 14580682 19196722 19196723
MESH:D008325 Mammary Neoplasms, Experimental Triclosan 6.3015358634
MESH:D020149 Manganese Poisoning Tamoxifen 4.4219453300
MESH:D008545 Melanoma Sirolimus 3.6819282848
MESH:D008545 Melanoma Tamoxifen 3.6812393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.0515990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.4419513568
OMIM:255320 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA marker/mechanism
MESH:D018200 Mixed Tumor, Mullerian Raloxifene 5.4315863610
MESH:D009062 Mouth Neoplasms Sirolimus 4.6019435901
MESH:D009101 Multiple Myeloma Raloxifene 3.3516497877
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.9112213967
MESH:D020512 Myopathy, Central Core marker/mechanism 14708096 14570802
MESH:D009232 Myxoma Raloxifene 5.4316343187
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.4919393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.4719410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 3.8719196722 19189210 19200415
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.0914600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.4118514411
MESH:D019636 Neurodegenerative Diseases Tacrolimus 8.4115081597
MESH:D052556 Niemann-Pick Disease, Type C perfluorooctanoic acid 4.829802331
MESH:D010024 Osteoporosis Calcium 7.2617882678
MESH:D010024 Osteoporosis Raloxifene 7.2615775268 17882678 19059307
MESH:D015663 Osteoporosis, Postmenopausal Raloxifene 4.1017893378 15579764 15758505 17823083
MESH:D010146 Pain Acetaminophen 2.2916870215
MESH:D010300 Parkinson Disease Sirolimus 3.6919682553
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.4318163543
MESH:D011297 Prenatal Exposure Delayed Effects perfluorooctanoic acid 9.2317132714
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.2311896295 11399792 11222880 11118676
MESH:D011471 Prostatic Neoplasms Raloxifene 3.4115731164 16536755 16220300
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.4115067354
MESH:D011693 Purpura Raloxifene 5.4315770314
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.7118990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 1.9816192470
MESH:D012893 Sleep Disorders Caffeine 5.1819395429
MESH:D007319 Sleep Initiation and Maintenance Disorders Caffeine 4.9717225163
MESH:D013088 Spermatocele Tamoxifen 4.1616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 3.9119457130
MESH:D020521 Stroke Raloxifene 3.7216837676
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 12.0712697716
MESH:D013959 Thyroid Diseases Triclosan 12.0719910387
MESH:D013978 Tibial Fractures Raloxifene 5.0819048282
MESH:D014402 Tuberous Sclerosis Sirolimus 5.4418495876 21115397
MESH:D001749 Urinary Bladder Neoplasms Raloxifene 5.0617572228
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.0616712894 8653321 17572228
MESH:D014581 Urticaria Acetaminophen 2.8510982225
MESH:D014605 Uveitis Sirolimus 5.501336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.4712125929
MESH:D054556 Venous Thromboembolism Raloxifene 5.0816837676
MESH:D014846 Vulvar Neoplasms Raloxifene 5.4316343187
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.1215886252
Pathway ID Pathway Name
KEGG:04020 Calcium signaling pathway
KEGG:04730 Long-term depression
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA34896
    • No data
    Releated disease ID Related disease Name
    PA447048Myopathy, Central Core
    PA444863Malignant Hyperthermia
    Releated drug ID Related drug Name
    PA452604xenobiotics
    PA449845halothane
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00201 - Wigraine Tab Central Nervous System Stimulants;Anorexigenic Agents;Phosphodiesterase Inhibitors
    DB01219 antagonist Dantrolene Muscle Relaxants, Central
    DB04786 agonist Suramin Antineoplastic Agents;Trypanocidal Agents;Antinematodal Agents
    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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