Showing entry for Ryanodine receptor 1


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT008693
Protein NameRyanodine receptor 1
Uniport IdP21817
GeneRYR1
Gene Id6261
DomainEF-hand_8; Ins145_P3_rec; Ion_trans; MIR; RIH_assoc; RR_TM4-6; RYDR_ITPR; RyR; SPRY
Pfam PF08709   PF00520   PF02815   PF08454   PF06459   PF01365   PF02026   PF00622  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
3. Environmental Information Processing 3.2 Signal transduction hsa04020 Calcium signaling pathway
3. Environmental Information Processing 3.2 Signal transduction hsa04371 Apelin signaling pathway
5. Organismal Systems 5.10 Environmental adaptation hsa04713 Circadian entrainment
5. Organismal Systems 5.6 Nervous system hsa04730 Long-term depression
5. Organismal Systems 5.2 Endocrine system hsa04921 Oxytocin signaling pathway
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006816 calcium ion transport
Biological Process GO:0071313 cellular response to caffeine
Biological Process GO:0071277 cellular response to calcium ion
Biological Process GO:0034220 ion transmembrane transport
Biological Process GO:0006936 muscle contraction
Biological Process GO:0043931 ossification involved in bone maturation
Biological Process GO:0003151 outflow tract morphogenesis
Biological Process GO:0051289 protein homotetramerization
Biological Process GO:1903779 regulation of cardiac conduction
Biological Process GO:0051480 regulation of cytosolic calcium ion concentration
Biological Process GO:0051209 release of sequestered calcium ion into cytosol
Biological Process GO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
Biological Process GO:0031000 response to caffeine
Biological Process GO:0001666 response to hypoxia
Biological Process GO:0048741 skeletal muscle fiber development
Biological Process GO:0043588 skin development
molecular function GO:0005524 ATP binding
molecular function GO:0005262 calcium channel activity
molecular function GO:0048763 calcium-induced calcium release activity
molecular function GO:0005509 calcium ion binding
molecular function GO:0015278 calcium-release channel activity
molecular function GO:0005516 calmodulin binding
molecular function GO:0002020 protease binding
molecular function GO:0005219 ryanodine-sensitive calcium-release channel activity
molecular function GO:0005245 voltage-gated calcium channel activity
cellular component GO:0034704 calcium channel complex
cellular component GO:0005938 cell cortex
cellular component GO:0005737 cytoplasm
cellular component GO:0030659 cytoplasmic vesicle membrane
cellular component GO:0070062 extracellular exosome
cellular component GO:0031674 I band
cellular component GO:0031301 integral component of organelle membrane
cellular component GO:0005887 integral component of plasma membrane
cellular component GO:0030314 junctional membrane complex
cellular component GO:0014701 junctional sarcoplasmic reticulum membrane
cellular component GO:0005886 plasma membrane
cellular component GO:1990425 ryanodine receptor complex
cellular component GO:0042383 sarcolemma
cellular component GO:0016529 sarcoplasmic reticulum
cellular component GO:0033017 sarcoplasmic reticulum membrane
cellular component GO:0005790 smooth endoplasmic reticulum
cellular component GO:0014802 terminal cisterna
cellular component GO:0030315 T-tubule
cellular component GO:0030018 Z disc
Reactome
Pathway Id Pathway Name
R-HSA-2672351 Stimuli-sensing channels
R-HSA-382551 Transport of small molecules
R-HSA-397014 Muscle contraction
R-HSA-5576891 Cardiac conduction
R-HSA-5578775 Ion homeostasis
R-HSA-983712 Ion channel transport
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0000786 BXGD000010 Spontaneous abortion Female Urogenital Diseases and Pregnancy Complications
C0002895 BXGD000152 Anemia, Sickle Cell Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0003466 BXGD000193 Anus, Imperforate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0003469 BXGD000195 Anxiety Disorders Mental Disorders
C0003811 BXGD000222 Cardiac Arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0003886 BXGD000238 Arthrogryposis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0004045 BXGD000249 Asphyxia Neonatorum Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0005129 BXGD000304 Bernard-Soulier Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0005779 BXGD000336 Blood Coagulation Disorders Hemic and Lymphatic Diseases
C0006625 BXGD000401 Cachexia Pathological Conditions, Signs and Symptoms
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007134 BXGD000443 Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0007193 BXGD000451 Cardiomyopathy, Dilated Cardiovascular Diseases
C0007222 BXGD000454 Cardiovascular Diseases Cardiovascular Diseases
C0007785 BXGD000485 Cerebral Infarction Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C0008928 BXGD000576 Cleidocranial Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0009081 BXGD000581 Congenital clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0009917 BXGD000635 Contracture Musculoskeletal Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0011071 BXGD000696 Sudden death Pathological Conditions, Signs and Symptoms
C0011168 BXGD000700 Deglutition Disorders Digestive System Diseases; Otorhinolaryngologic Diseases
C0011570 BXGD000729 Mental Depression Behavior and Behavior Mechanisms
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0011989 BXGD000765 Camurati-Engelmann Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0013264 BXGD000808 Muscular Dystrophy, Duchenne Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013604 BXGD000859 Edema Pathological Conditions, Signs and Symptoms
C0015469 BXGD000996 Facial paralysis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015644 BXGD001008 Muscular fasciculation Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0015967 BXGD001030 Fever Pathological Conditions, Signs and Symptoms
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0017921 BXGD001152 Glycogen storage disease type II Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0018801 BXGD001226 Heart failure Cardiovascular Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0018920 BXGD001246 Hemangioma, Cavernous Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0019553 BXGD001333 Hip Contracture Musculoskeletal Diseases
C0019569 BXGD001337 Hirschsprung Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0020224 BXGD001366 Polyhydramnios Female Urogenital Diseases and Pregnancy Complications
C0020305 BXGD001374 Hydrops Fetalis Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
C0020440 BXGD001383 Hypercapnia Pathological Conditions, Signs and Symptoms
C0020461 BXGD001395 Hyperkalemia Nutritional and Metabolic Diseases
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020625 BXGD001451 Hyponatremia Nutritional and Metabolic Diseases
C0020649 BXGD001459 Hypotension Cardiovascular Diseases
C0023380 BXGD001640 Lethargy Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024299 BXGD001758 Lymphoma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0024591 BXGD001789 Malignant hyperpyrexia due to anesthesia Pathological Conditions, Signs and Symptoms
C0026034 BXGD001887 Microstomia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026267 BXGD001896 Mitral Valve Prolapse Syndrome Cardiovascular Diseases
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026764 BXGD001928 Multiple Myeloma Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0026821 BXGD001933 Muscle Cramp Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026837 BXGD001937 Muscle Rigidity Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0026847 BXGD001940 Spinal Muscular Atrophy Nervous System Diseases
C0026848 BXGD001941 Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0026850 BXGD001942 Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0027080 BXGD001969 Myoglobinuria Musculoskeletal Diseases
C0027121 BXGD001973 Myositis Musculoskeletal Diseases; Nervous System Diseases
C0027831 BXGD002047 Neurofibromatosis 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0027849 BXGD002049 Neuroleptic Malignant Syndrome Nervous System Diseases; Chemically-Induced Disorders
C0027868 BXGD002053 Neuromuscular Diseases Nervous System Diseases
C0029089 BXGD002107 Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0030443 BXGD002224 Familial Periodic Paralysis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0030552 BXGD002238 Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0032285 BXGD002344 Pneumonia Infections; Respiratory Tract Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0033860 BXGD002438 Psoriasis Skin and Connective Tissue Diseases
C0033999 BXGD002448 Pterygium Eye Diseases
C0034194 BXGD002472 Pyloric Stenosis Digestive System Diseases
C0035086 BXGD002506 Renal Osteodystrophy Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases
C0035220 BXGD002512 Respiratory Distress Syndrome, Newborn Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0035410 BXGD002546 Rhabdomyolysis Musculoskeletal Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036690 BXGD002632 Septicemia Pathological Conditions, Signs and Symptoms; Infections
C0038220 BXGD002740 Status Epilepticus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038454 BXGD002760 Cerebrovascular accident Nervous System Diseases; Cardiovascular Diseases
C0038525 BXGD002768 Subarachnoid Hemorrhage Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C0039231 BXGD002799 Tachycardia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0039240 BXGD002804 Supraventricular tachycardia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0039273 BXGD002806 Talipes cavus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0040100 BXGD002840 Thymoma Neoplasms; Hemic and Lymphatic Diseases
C0042024 BXGD002949 Urinary Incontinence Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0042514 BXGD002989 Tachycardia, Ventricular Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0085612 BXGD003204 Ventricular arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0085623 BXGD003210 Akinesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085681 BXGD003237 Hyperphosphatemia (disorder) Nutritional and Metabolic Diseases
C0086437 BXGD003282 Joint laxity Musculoskeletal Diseases
C0149721 BXGD003349 Left Ventricular Hypertrophy Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0151636 BXGD003451 Premature ventricular contractions Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0151888 BXGD003497 Hyporeflexia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0153690 BXGD003684 Secondary malignant neoplasm of bone Pathological Conditions, Signs and Symptoms; Neoplasms; Musculoskeletal Diseases
C0155338 BXGD003787 Total ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0162292 BXGD003930 External Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0162557 BXGD003956 Liver Failure, Acute Digestive System Diseases
C0175709 BXGD004013 Centronuclear myopathy Musculoskeletal Diseases; Nervous System Diseases
C0200641 BXGD004044 Blood basophil count (lab test)
C0206157 BXGD004165 Myopathies, Nemaline Musculoskeletal Diseases; Nervous System Diseases
C0206620 BXGD004187 Lymphangioma, Cystic Neoplasms
C0220981 BXGD004348 Metabolic acidosis Nutritional and Metabolic Diseases
C0221170 BXGD004400 Muscular stiffness Nervous System Diseases
C0221358 BXGD004450 Long narrow head
C0221629 BXGD004467 Proximal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0231230 BXGD004485 Fatigability
C0231528 BXGD004496 Myalgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0231531 BXGD004498 Muscle fibrillation Nervous System Diseases
C0231712 BXGD004519 Waddling gait Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0231835 BXGD004527 Tachypnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0232466 BXGD004543 Feeding difficulties
C0234146 BXGD004626 Absent reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234182 BXGD004631 Gowers sign
C0234860 BXGD004698 Weak cry
C0235659 BXGD004763 Reduced fetal movement Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0236734 BXGD004823 Caffeine related disorders
C0238358 BXGD004917 Hypokalemic periodic paralysis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0238694 BXGD004953 Peripheral arthritis Musculoskeletal Diseases
C0239067 BXGD004961 Difficulty walking up stairs Pathological Conditions, Signs and Symptoms
C0240421 BXGD005037 Progressive muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0240635 BXGD005047 Byzanthine arch palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C0240953 BXGD005067 Winged scapula
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0241165 BXGD005083 Thick skin
C0241654 BXGD005104 Abnormal heart valve morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0243026 BXGD005210 Sepsis Pathological Conditions, Signs and Symptoms; Infections
C0263992 BXGD005358 Exertional rhabdomyolysis (disorder) Musculoskeletal Diseases
C0264162 BXGD005369 Camptocormia Musculoskeletal Diseases; Nervous System Diseases
C0265110 BXGD005455 Cerebral Vasospasm Nervous System Diseases; Cardiovascular Diseases
C0265213 BXGD005464 Distal arthrogryposis syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265261 BXGD005489 Multiple pterygium syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0265509 BXGD005540 Congenital anomaly of skeletal bone Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0265529 BXGD005542 Plagiocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0265783 BXGD005575 Congenital hypoplasia of lung Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0270960 BXGD006141 Congenital myopathy (disorder) Musculoskeletal Diseases; Nervous System Diseases
C0270962 BXGD006142 Multi-core congenital myopathy Musculoskeletal Diseases; Nervous System Diseases
C0270971 BXGD006146 Floppy infant syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0278134 BXGD006498 Absence of sensation Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0279702 BXGD006685 Conventional (Clear Cell) Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0332615 BXGD006898 Myopathic facies
C0332878 BXGD006904 Congenital contracture Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0333068 BXGD006920 Flexion contracture Musculoskeletal Diseases
C0333759 BXGD006967 Muscle fiber hypertrophy
C0340485 BXGD007334 Familial ventricular tachycardia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0342751 BXGD007542 Generalized glycogen storage disease of infants Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0342788 BXGD007552 Renal carnitine transport defect Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C0343239 BXGD007611 Benign congenital hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0344315 BXGD007666 Depressed mood Behavior and Behavior Mechanisms
C0344490 BXGD007680 Sacral agenesis Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0349588 BXGD007933 Short stature
C0349788 BXGD007956 Arrhythmogenic Right Ventricular Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0393761 BXGD008141 Middle insomnia Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0410158 BXGD008408 Muscle damage
C0410203 BXGD008417 X-linked centronuclear myopathy Musculoskeletal Diseases; Nervous System Diseases
C0410204 BXGD008418 Myopathy, Centronuclear, Autosomal Recessive Musculoskeletal Diseases; Nervous System Diseases
C0410207 BXGD008419 Tubular Aggregate Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0426818 BXGD008586 Thin rib
C0427055 BXGD008601 Facial Paresis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0427063 BXGD008602 Shoulder girdle weakness
C0427064 BXGD008603 Pelvic girdle weakness Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0431659 BXGD008699 Hypoplasia of scrotum
C0432072 BXGD008718 Dysmorphic features
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0476403 BXGD008992 Electromyogram abnormal
C0520463 BXGD009085 Chronic active hepatitis Digestive System Diseases
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0524909 BXGD009247 Hepatitis B, Chronic Digestive System Diseases; Infections
C0541794 BXGD009262 Skeletal muscle atrophy
C0546264 BXGD009330 Congenital Fiber Type Disproportion Musculoskeletal Diseases; Nervous System Diseases
C0557874 BXGD009444 Global developmental delay
C0560346 BXGD009475 Difficulty running Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0574960 BXGD009507 Sacroiliitis Musculoskeletal Diseases
C0575081 BXGD009512 Gait abnormality Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal Diseases
C0678230 BXGD009750 Congenital Epicanthus
C0684249 BXGD009790 Carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0699743 BXGD009862 Congenital muscular dystrophy (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0742747 BXGD010067 High-output congestive heart failure Cardiovascular Diseases
C0743841 BXGD010085 Disorder characterized by fever Pathological Conditions, Signs and Symptoms
C0746674 BXGD010147 Generalized muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0750194 BXGD010230 Non-sustained ventricular tachycardia
C0751336 BXGD010392 Distal Muscular Dystrophies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0751951 BXGD010648 Central Core Myopathy (disorder) Musculoskeletal Diseases; Nervous System Diseases
C0752282 BXGD010709 Congenital Structural Myopathy Musculoskeletal Diseases; Nervous System Diseases
C0795693 BXGD010731 Skeletal malformation Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
C0860659 BXGD011240 Aloof
C0947912 BXGD011497 Myasthenias Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1145670 BXGD011764 Respiratory Failure Respiratory Tract Diseases
C1184923 BXGD011800 Lumbar hyperlordosis Musculoskeletal Diseases
C1260922 BXGD011843 Abnormal breathing Respiratory Tract Diseases
C1263857 BXGD011900 Peripheral axonal neuropathy Nervous System Diseases
C1266042 BXGD011938 Chromophobe Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1266043 BXGD011939 Sarcomatoid Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1266044 BXGD011940 Collecting Duct Carcinoma of the Kidney Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1276035 BXGD012100 Pena-Shokeir syndrome type I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1279412 BXGD012121 periodic paralysis (finding) Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1302995 BXGD012316 Congenital Fibrosis of the Extraocular Muscles Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1306460 BXGD012362 Primary malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C1306837 BXGD012377 Papillary Renal Cell Carcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C1319466 BXGD012417 Barber Say syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases
C1387005 BXGD012953 Penis agenesis Male Urogenital Diseases
C1389113 BXGD012965 Generalized amyotrophy
C1527344 BXGD013275 Dysphonia Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
C1533847 BXGD013318 Disorder of skeletal muscle Musculoskeletal Diseases; Nervous System Diseases
C1611743 BXGD013456 Familial (FPAH)
C1631597 BXGD013480 VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C1834558 BXGD013978 Myopathy, Centronuclear, Autosomal Dominant Musculoskeletal Diseases; Nervous System Diseases
C1836003 BXGD014069 Facial diplegia Infections; Nervous System Diseases; Stomatognathic Diseases
C1836047 BXGD014074 Long face
C1836599 BXGD014136 Macrocephaly at birth Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1836609 BXGD014138 Progressive distal muscle weakness
C1836835 BXGD014166 Hyporeflexia of upper limbs
C1837098 BXGD014198 Easy fatigability
C1837260 BXGD014214 Prominent forehead
C1837463 BXGD014235 Narrow face
C1837658 BXGD014257 Gross motor development delay Mental Disorders
C1839758 BXGD014402 Narrow forehead
C1839767 BXGD014404 Tented upper lip vermilion
C1840365 BXGD014454 King Denborough syndrome Pathological Conditions, Signs and Symptoms
C1840372 BXGD014455 Mixed respiratory and metabolic acidosis Nutritional and Metabolic Diseases
C1842170 BXGD014503 Centrally nucleated skeletal muscle fibers
C1843057 BXGD014552 Calf muscle hypertrophy
C1843697 BXGD014603 Axial muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1843700 BXGD014604 Increased variability in muscle fiber diameter
C1848395 BXGD014921 Large for gestational age Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
C1849367 BXGD015046 Nasal bridge wide
C1850625 BXGD015160 Native American myopathy Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
C1850674 BXGD015170 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
C1850794 BXGD015178 Proximal amyotrophy
C1850830 BXGD015181 Exercise-induced myalgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1854301 BXGD015391 Motor delay Mental Disorders
C1854387 BXGD015396 Type 1 muscle fiber predominance
C1854494 BXGD015409 Slow progression
C1854678 BXGD015420 MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C1855106 BXGD015459 Neonatal onset
C1855126 BXGD015464 3-Methylglutaconic Aciduria Type IV Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
C1855285 BXGD015483 Protruding ear
C1856507 BXGD015614 Bulbar signs
C1856694 BXGD015632 Areflexia of lower limbs Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1857276 BXGD015688 Trichohepatoenteric Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C1857641 BXGD015727 Severe postnatal growth retardation
C1857941 BXGD015756 Brooke-Spiegler syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
C1858091 BXGD015771 Long fingers
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1861403 BXGD016045 Variable expressivity
C1861753 BXGD016073 Multiminicore Disease, Moderate, with Hand Involvement Musculoskeletal Diseases; Nervous System Diseases
C1864716 BXGD016245 Intrinsic hand muscle atrophy
C1866010 BXGD016360 Proximal muscle weakness in lower limbs
C1866012 BXGD016361 Proximal muscle weakness in upper limbs
C1866021 BXGD016363 Increased connective tissue
C1867441 BXGD016455 Pterygium Of Conjunctiva And Cornea Eye Diseases
C2083352 BXGD016916 Rectus femoris muscle atrophy
C2267233 BXGD017017 Neonatal Hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2609414 BXGD017182 Acute kidney injury Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C2674259 BXGD017242 NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER (disorder) Musculoskeletal Diseases; Nervous System Diseases
C2674608 BXGD017250 Feeding difficulties in infancy
C2930980 BXGD017927 Malignant hyperthermia susceptibility type 1 Pathological Conditions, Signs and Symptoms
C3150620 BXGD018314 Distal upper limb muscle weakness
C3151520 BXGD018439 Early severe fetal akinesia sequence
C3203102 BXGD018555 Idiopathic pulmonary arterial hypertension Respiratory Tract Diseases
C3250443 BXGD018584 MYOTONIC DYSTROPHY 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C3267178 BXGD018617 Axial myopathy
C3494422 BXGD018966 Retrognathia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C3553764 BXGD019187 Joint hyperflexibility
C3645536 BXGD019247 Autosomal Recessive Centronuclear Myopathy Musculoskeletal Diseases; Nervous System Diseases
C3661489 BXGD019263 Autosomal Dominant Myotubular Myopathy Musculoskeletal Diseases; Nervous System Diseases
C3714514 BXGD019409 Infection Infections
C3714580 BXGD019414 Hypokalemic periodic paralysis type 1
C3806467 BXGD019513 Respiratory insufficiency due to muscle weakness Respiratory Tract Diseases
C3806482 BXGD019514 Recurrent respiratory infections Infections; Respiratory Tract Diseases
C3806604 BXGD019520 Infantile axial hypotonia
C3807306 BXGD019531 Acute rhabdomyolysis Musculoskeletal Diseases
C3808039 BXGD019537 Nemaline bodies
C3808250 BXGD019542 Reduced forced vital capacity
C3839460 BXGD019773 Nonprogressive
C4016368 BXGD020319 CENTRAL CORE DISEASE, AUTOSOMAL RECESSIVE
C4021526 BXGD020653 Exercise-induced rhabdomyolysis Musculoskeletal Diseases
C4021726 BXGD020735 EMG: myopathic abnormalities Musculoskeletal Diseases; Nervous System Diseases
C4021728 BXGD020737 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
C4022568 BXGD020919 Central core regions in muscle fibers
C4023067 BXGD021093 Sternocleidomastoid amyotrophy
C4023104 BXGD021108 Intermittent painful muscle spasms Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4023180 BXGD021139 Type 1 muscle fiber atrophy
C4023375 BXGD021167 Tibialis atrophy
C4024608 BXGD021339 Necrotizing myopathy Musculoskeletal Diseases; Nervous System Diseases
C4024700 BXGD021375 Elevated creatine kinase after exercise
C4024921 BXGD021475 Lower limb amyotrophy
C4025568 BXGD021667 Type 1 and type 2 muscle fiber minicore regions Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
C4025571 BXGD021670 Type 1 fibers relatively smaller than type 2 fibers
C4025785 BXGD021787 Abnormality of the foot musculature
C4073214 BXGD022066 Abnormality of masseter muscle
C4082299 BXGD022088 Bulbar palsy Nervous System Diseases
C4281993 BXGD022418 Neonatal respiratory distress Respiratory Tract Diseases
C4476998 BXGD022900 Frog-leg posture Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C4520843 BXGD023043 Pterygium of eye Eye Diseases
C4531203 BXGD023204 Cardiomyocyte mitochondrial proliferation
C4531255 BXGD023210 Internally nucleated skeletal muscle fibers
C4551488 BXGD023314 Bifid uvula
C4551649 BXGD023382 Congenital Dysplasia Of The Hip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C4551915 BXGD023441 Gait Disturbance, CTCAE
C4551952 BXGD023444 Myopathy, Centronuclear, 1 Musculoskeletal Diseases; Nervous System Diseases
C4552811 BXGD023526 Generalized Muscle Weakness, CTCAE
C4706390 BXGD023691 Congenital myopathy with myasthenic-like onset
C4749502 BXGD024061 Benign Samaritan congenital myopathy
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0001502 Caffeine 194.19
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein