Showing entry for Titin


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT019023
Protein NameTitin
Uniport IdQ8WZ42
GeneTTN
Gene Id7273
Domainfn3; I-set; Pkinase; PPAK; THB; Titin_Z
Pfam PF00041   PF07679   PF00069   PF02818   PF18362   PF09042  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
6. Human Diseases 6.6 Cardiovascular diseases hsa05410 Hypertrophic cardiomyopathy (HCM)
6. Human Diseases 6.6 Cardiovascular diseases hsa05414 Dilated cardiomyopathy (DCM)
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0060048 cardiac muscle contraction
Biological Process GO:0048739 cardiac muscle fiber development
Biological Process GO:0003300 cardiac muscle hypertrophy
Biological Process GO:0055008 cardiac muscle tissue morphogenesis
Biological Process GO:0055003 cardiac myofibril assembly
Biological Process GO:0035995 detection of muscle stretch
Biological Process GO:0007076 mitotic chromosome condensation
Biological Process GO:0006936 muscle contraction
Biological Process GO:0030049 muscle filament sliding
Biological Process GO:0002576 platelet degranulation
Biological Process GO:0010628 positive regulation of gene expression
Biological Process GO:0050714 positive regulation of protein secretion
Biological Process GO:0010737 protein kinase A signaling
Biological Process GO:0050790 regulation of catalytic activity
Biological Process GO:0045859 regulation of protein kinase activity
Biological Process GO:0051592 response to calcium ion
Biological Process GO:0045214 sarcomere organization
Biological Process GO:0048769 sarcomerogenesis
Biological Process GO:0030241 skeletal muscle myosin thick filament assembly
Biological Process GO:0030240 skeletal muscle thin filament assembly
Biological Process GO:0006941 striated muscle contraction
molecular function GO:0051015 actin filament binding
molecular function GO:0042805 actinin binding
molecular function GO:0005524 ATP binding
molecular function GO:0005509 calcium ion binding
molecular function GO:0005516 calmodulin binding
molecular function GO:0019899 enzyme binding
molecular function GO:0042802 identical protein binding
molecular function GO:0051371 muscle alpha-actinin binding
molecular function GO:0002020 protease binding
molecular function GO:0019901 protein kinase binding
molecular function GO:0043621 protein self-association
molecular function GO:0004674 protein serine/threonine kinase activity
molecular function GO:0004713 protein tyrosine kinase activity
molecular function GO:0008307 structural constituent of muscle
molecular function GO:0097493 structural molecule activity conferring elasticity
molecular function GO:0031433 telethonin binding
cellular component GO:0000794 condensed nuclear chromosome
cellular component GO:0005829 cytosol
cellular component GO:0070062 extracellular exosome
cellular component GO:0005576 extracellular region
cellular component GO:0031674 I band
cellular component GO:0031430 M band
cellular component GO:0005865 striated muscle thin filament
cellular component GO:0030018 Z disc
Reactome
Pathway Id Pathway Name
R-HSA-109582 Hemostasis
R-HSA-114608 Platelet degranulation
R-HSA-390522 Striated Muscle Contraction
R-HSA-397014 Muscle contraction
R-HSA-76002 Platelet activation, signaling and aggregation
R-HSA-76005 Response to elevated platelet cytosolic Ca2+
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000768 BXGD000007 Congenital Abnormality Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0000772 BXGD000009 Multiple congenital anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0000921 BXGD000019 Accidental Falls
C0002395 BXGD000111 Alzheimer's Disease Nervous System Diseases; Mental Disorders
C0002736 BXGD000127 Amyotrophic Lateral Sclerosis Nutritional and Metabolic Diseases; Nervous System Diseases
C0003467 BXGD000194 Anxiety Behavior and Behavior Mechanisms
C0003469 BXGD000195 Anxiety Disorders Mental Disorders
C0003504 BXGD000202 Aortic Valve Insufficiency Cardiovascular Diseases
C0003507 BXGD000203 Aortic Valve Stenosis Cardiovascular Diseases
C0003811 BXGD000222 Cardiac Arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0003862 BXGD000230 Arthralgia Pathological Conditions, Signs and Symptoms; Musculoskeletal 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
C0004238 BXGD000262 Atrial Fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0004239 BXGD000263 Atrial Flutter Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0004245 BXGD000264 Atrioventricular Block Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0004277 BXGD000266 Tooth Attrition Stomatognathic Diseases
C0004364 BXGD000270 Autoimmune Diseases Immune System Diseases
C0005745 BXGD000331 Blepharoptosis Eye Diseases
C0006142 BXGD000374 Malignant neoplasm of breast Neoplasms; Skin and Connective Tissue Diseases
C0006826 BXGD000408 Malignant Neoplasms Neoplasms
C0007131 BXGD000441 Non-Small Cell Lung Carcinoma Neoplasms; Respiratory Tract Diseases
C0007192 BXGD000450 Cardiomyopathy, Alcoholic Chemically-Induced Disorders; Cardiovascular Diseases
C0007193 BXGD000451 Cardiomyopathy, Dilated Cardiovascular Diseases
C0007194 BXGD000452 Hypertrophic Cardiomyopathy Cardiovascular Diseases
C0007196 BXGD000453 Restrictive cardiomyopathy Cardiovascular Diseases
C0007789 BXGD000488 Cerebral Palsy Nervous System Diseases
C0007859 BXGD000494 Neck Pain Pathological Conditions, Signs and Symptoms
C0007959 BXGD000507 Charcot-Marie-Tooth Disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0009081 BXGD000581 Congenital clubfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0009326 BXGD000598 Collagen Diseases Skin and Connective Tissue Diseases
C0009917 BXGD000635 Contracture Musculoskeletal Diseases
C0011071 BXGD000696 Sudden death Pathological Conditions, Signs and Symptoms
C0011311 BXGD000714 Dengue Fever Infections
C0011570 BXGD000729 Mental Depression Behavior and Behavior Mechanisms
C0011581 BXGD000733 Depressive disorder Mental Disorders
C0011633 BXGD000742 Dermatomyositis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0011644 BXGD000744 Scleroderma Skin and Connective Tissue Diseases
C0011847 BXGD000749 Diabetes Endocrine System Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0011860 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013080 BXGD000797 Down Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0013264 BXGD000808 Muscular Dystrophy, Duchenne Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0013336 BXGD000815 Dwarfism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
C0013362 BXGD000817 Dysarthria Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0013404 BXGD000833 Dyspnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0014522 BXGD000922 Epidermodysplasia Verruciformis Infections; Skin and Connective Tissue Diseases
C0015469 BXGD000996 Facial paralysis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0015544 BXGD001003 Failure to Thrive Pathological Conditions, Signs and Symptoms
C0015672 BXGD001011 Fatigue Pathological Conditions, Signs and Symptoms
C0016053 BXGD001041 Fibromyalgia Musculoskeletal Diseases; Nervous System Diseases
C0016202 BXGD001050 Flatfoot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0018681 BXGD001214 Headache Pathological Conditions, Signs and Symptoms
C0018784 BXGD001220 Sensorineural Hearing Loss (disorder) Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0018799 BXGD001224 Heart Diseases Cardiovascular Diseases
C0018801 BXGD001226 Heart failure Cardiovascular Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0018808 BXGD001229 Heart murmur Pathological Conditions, Signs and Symptoms
C0018817 BXGD001235 Atrial Septal Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0019294 BXGD001314 Hernia, Inguinal Pathological Conditions, Signs and Symptoms
C0019553 BXGD001333 Hip Contracture Musculoskeletal Diseases
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
C0020534 BXGD001421 Orbital separation excessive Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020550 BXGD001429 Hyperthyroidism Endocrine System Diseases
C0020676 BXGD001462 Hypothyroidism Endocrine System Diseases
C0023212 BXGD001616 Left-Sided Heart Failure Cardiovascular Diseases
C0023418 BXGD001642 leukemia Neoplasms
C0023467 BXGD001658 Leukemia, Myelocytic, Acute Neoplasms
C0023470 BXGD001659 Myeloid Leukemia Neoplasms
C0023787 BXGD001698 Lipodystrophy Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024198 BXGD001743 Lyme Disease Infections
C0025202 BXGD001832 melanoma Neoplasms
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
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026838 BXGD001938 Muscle Spasticity 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
C0026896 BXGD001946 Myasthenia Gravis Neoplasms; Immune System Diseases; Nervous System Diseases
C0027051 BXGD001963 Myocardial Infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0027059 BXGD001965 Myocarditis Cardiovascular Diseases
C0027092 BXGD001971 Myopia Eye Diseases
C0027121 BXGD001973 Myositis Musculoskeletal Diseases; Nervous System Diseases
C0027627 BXGD002006 Neoplasm Metastasis Pathological Conditions, Signs and Symptoms; Neoplasms
C0027651 BXGD002009 Neoplasms Neoplasms
C0027708 BXGD002025 Nephroblastoma Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0027831 BXGD002047 Neurofibromatosis 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0027868 BXGD002053 Neuromuscular Diseases Nervous System Diseases
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0029089 BXGD002107 Ophthalmoplegia Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0029408 BXGD002137 Degenerative polyarthritis Musculoskeletal Diseases
C0029463 BXGD002160 Osteosarcoma Neoplasms
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0030252 BXGD002199 Palpitations Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C0033036 BXGD002389 Atrial Premature Complexes Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0033377 BXGD002406 Ptosis Pathological Conditions, Signs and Symptoms
C0035220 BXGD002512 Respiratory Distress Syndrome, Newborn Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0035412 BXGD002548 Rhabdomyosarcoma Neoplasms
C0035435 BXGD002549 Rheumatism Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036421 BXGD002613 Systemic Scleroderma Skin and Connective Tissue Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0037052 BXGD002662 Sick Sinus Syndrome Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0039070 BXGD002787 Syncope Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0039273 BXGD002806 Talipes cavus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0039494 BXGD002814 Temporomandibular Joint Disorders Musculoskeletal Diseases; Stomatognathic Diseases
C0039496 BXGD002815 Temporomandibular Joint Dysfunction Syndrome Musculoskeletal Diseases; Stomatognathic Diseases
C0039685 BXGD002825 Tetralogy of Fallot Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0040100 BXGD002840 Thymoma Neoplasms; Hemic and Lymphatic Diseases
C0042514 BXGD002989 Tachycardia, Ventricular Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0042834 BXGD003004 Vital capacity
C0043202 BXGD003037 Wolff-Parkinson-White Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0079352 BXGD003076 Congenital torticollis Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0085207 BXGD003140 Gestational Diabetes Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0085612 BXGD003204 Ventricular arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0085619 BXGD003207 Orthopnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0149678 BXGD003346 Epstein-Barr Virus Infections Infections
C0149721 BXGD003349 Left Ventricular Hypertrophy Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0149779 BXGD003363 Somatization
C0149782 BXGD003365 Squamous cell carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0149925 BXGD003387 Small cell carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0150055 BXGD003401 Chronic pain Pathological Conditions, Signs and Symptoms
C0151293 BXGD003410 Chronic Headache Nervous System Diseases
C0151517 BXGD003431 Complete atrioventricular block Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0151636 BXGD003451 Premature ventricular contractions Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0151744 BXGD003469 Myocardial Ischemia Cardiovascular Diseases
C0151786 BXGD003475 Muscle Weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0152244 BXGD003571 Bone Cysts, Aneurysmal Neoplasms; Musculoskeletal Diseases
C0154143 BXGD003704 Toxic multinodular goiter Endocrine System Diseases
C0155626 BXGD003806 Acute myocardial infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0158940 BXGD003911 Transitory tachypnea of newborn Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
C0162678 BXGD003974 Neurofibromatoses Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases
C0162770 BXGD003980 Right Ventricular Hypertrophy Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0175709 BXGD004013 Centronuclear myopathy Musculoskeletal Diseases; Nervous System Diseases
C0178782 BXGD004034 Orofacial Pain Pathological Conditions, Signs and Symptoms
C0220611 BXGD004295 Childhood Rhabdomyosarcoma Neoplasms
C0221054 BXGD004381 Welander Distal Myopathy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0221056 BXGD004383 Adult type dermatomyositis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0221170 BXGD004400 Muscular stiffness Nervous System Diseases
C0221217 BXGD004408 Neck webbing Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C0221629 BXGD004467 Proximal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0231528 BXGD004496 Myalgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0231617 BXGD004503 Catch - Finding of sensory dimension of pain Pathological Conditions, Signs and Symptoms
C0231712 BXGD004519 Waddling gait Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0233844 BXGD004620 Clumsiness Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
C0234146 BXGD004626 Absent reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234182 BXGD004631 Gowers sign
C0235063 BXGD004718 Respiratory Depression Respiratory Tract Diseases
C0235162 BXGD004727 Difficulty sleeping Mental Disorders
C0235480 BXGD004751 Paroxysmal atrial fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0235527 BXGD004753 Heart Failure, Right-Sided Cardiovascular 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
C0241237 BXGD005088 Difficulty standing Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0241654 BXGD005104 Abnormal heart valve morphology Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0241703 BXGD005109 High pitched voice
C0242383 BXGD005160 Age related macular degeneration Eye Diseases
C0262586 BXGD005258 Osteopenia/osteoporosis Nutritional and Metabolic Diseases; Musculoskeletal Diseases
C0264733 BXGD005422 Ventricular dilatation (disorder) Cardiovascular Diseases
C0264789 BXGD005428 Familial cardiomyopathy Cardiovascular Diseases
C0270960 BXGD006141 Congenital myopathy (disorder) Musculoskeletal Diseases; Nervous System Diseases
C0270962 BXGD006142 Multi-core congenital myopathy Musculoskeletal Diseases; Nervous System Diseases
C0278701 BXGD006566 Gastric Adenocarcinoma Digestive System Diseases; Neoplasms
C0278883 BXGD006614 Metastatic melanoma Neoplasms
C0279550 BXGD006635 Adult Rhabdomyosarcoma Neoplasms
C0279626 BXGD006657 Squamous cell carcinoma of esophagus Digestive System Diseases; Neoplasms
C0280100 BXGD006713 Solid Neoplasm Neoplasms
C0281788 BXGD006786 Biventricular hypertrophy Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0332878 BXGD006904 Congenital contracture Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0333068 BXGD006920 Flexion contracture Musculoskeletal Diseases
C0333751 BXGD006966 Muscle fiber atrophy
C0333759 BXGD006967 Muscle fiber hypertrophy
C0338596 BXGD007206 Spastic cerebral palsy Nervous System Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0339510 BXGD007257 Vitelliform Macular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0340427 BXGD007329 Familial dilated cardiomyopathy Cardiovascular Diseases
C0340429 BXGD007330 Familial restrictive cardiomyopathy (disorder) Cardiovascular Diseases
C0340477 BXGD007333 Re-entrant atrioventricular tachycardia
C0344315 BXGD007666 Depressed mood Behavior and Behavior Mechanisms
C0345958 BXGD007751 Large cell carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0349588 BXGD007933 Short stature
C0349788 BXGD007956 Arrhythmogenic Right Ventricular Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0362046 BXGD007959 Prediabetes syndrome Nutritional and Metabolic Diseases; Endocrine System Diseases
C0376358 BXGD007992 Malignant neoplasm of prostate Neoplasms; Male Urogenital Diseases
C0399526 BXGD008251 Class III malocclusion Stomatognathic Diseases
C0410000 BXGD008406 Overlap syndrome Skin and Connective Tissue Diseases; Immune System Diseases
C0410158 BXGD008408 Muscle damage
C0410204 BXGD008418 Myopathy, Centronuclear, Autosomal Recessive Musculoskeletal Diseases; Nervous System Diseases
C0423112 BXGD008472 Short palpebral fissure
C0424295 BXGD008524 Hyperactive behavior Pathological Conditions, Signs and Symptoms; Nervous System Diseases
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
C0427065 BXGD008604 Distal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0427149 BXGD008608 Gait, Drop Foot Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0427515 BXGD008619 Neutrophil abnormality
C0428974 BXGD008642 Supraventricular arrhythmia Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0429028 BXGD008646 QT interval feature (observable entity)
C0429087 BXGD008647 Electrocardiogram: P-R interval
C0454644 BXGD008850 Delayed speech and language development Behavior and Behavior Mechanisms
C0476403 BXGD008992 Electromyogram abnormal
C0476408 BXGD008994 Reduced vital capacity
C0520679 BXGD009101 Sleep Apnea, Obstructive Respiratory Tract Diseases; Nervous System Diseases
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0521532 BXGD009141 Diaphragmatic paresis Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0525045 BXGD009255 Mood Disorders Mental Disorders
C0541794 BXGD009262 Skeletal muscle atrophy
C0553642 BXGD009403 Soft tissue rheumatism Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0558384 BXGD009454 Arthritis/arthrosis
C0558845 BXGD009459 Reflex, Ankle, Absent Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0560346 BXGD009475 Difficulty running Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0577655 BXGD009536 Quadriceps weakness Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0585442 BXGD009593 Osteosarcoma of bone Neoplasms
C0596263 BXGD009639 Carcinogenesis Pathological Conditions, Signs and Symptoms; Neoplasms
C0600139 BXGD009695 Prostate carcinoma Neoplasms; Male Urogenital Diseases
C0678222 BXGD009749 Breast Carcinoma Neoplasms; Skin and Connective Tissue Diseases
C0686353 BXGD009833 Muscular Dystrophies, Limb-Girdle Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0699743 BXGD009862 Congenital muscular dystrophy (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0699885 BXGD009869 Carcinoma of bladder Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0700613 BXGD009896 Anxiety state Mental Disorders; Behavior and Behavior Mechanisms
C0702166 BXGD009912 Acne Skin and Connective Tissue Diseases
C0730308 BXGD009953 Melanoma-Associated Retinopathy Neoplasms; Eye Diseases
C0740302 BXGD009975 5q-syndrome Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases
C0741923 BXGD010045 cardiac event
C0746674 BXGD010147 Generalized muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0747845 BXGD010184 early pregnancy
C0749379 BXGD010214 Thoracolumbar scoliosis Musculoskeletal Diseases
C0751336 BXGD010392 Distal Muscular Dystrophies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0751657 BXGD010541 Nemaline Myopathy, Autosomal Recessive Musculoskeletal Diseases; Nervous System Diseases
C0815107 BXGD010861 psychological distress
C0850703 BXGD010905 Frequent falls Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0856169 BXGD011096 Endothelial dysfunction
C0856863 BXGD011122 Broad-based gait
C0871470 BXGD011316 Systolic Pressure
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0917713 BXGD011404 Becker Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0949658 BXGD011582 Cardiomyopathy, Hypertrophic, Familial Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C1135196 BXGD011694 Heart Failure, Diastolic Cardiovascular Diseases
C1145670 BXGD011764 Respiratory Failure Respiratory Tract Diseases
C1269955 BXGD012005 Tumor Cell Invasion
C1279420 BXGD012122 Anxiety neurosis (finding) Mental Disorders
C1280433 BXGD012125 Lipoatrophy Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
C1306459 BXGD012361 Primary malignant neoplasm Neoplasms
C1319315 BXGD012415 Adenocarcinoma of large intestine Digestive System Diseases; Neoplasms
C1321329 BXGD012430 Slowed saccades
C1328407 BXGD012465 Hip Dysplasia Musculoskeletal Diseases; Wounds and Injuries
C1332977 BXGD012569 Childhood Leukemia Neoplasms
C1332986 BXGD012574 Childhood Osteosarcoma Neoplasms
C1335167 BXGD012768 Ovarian Mucinous Adenocarcinoma Neoplasms
C1335177 BXGD012771 Ovarian Serous Adenocarcinoma Neoplasms
C1368683 BXGD012900 Epithelioma Neoplasms
C1389113 BXGD012965 Generalized amyotrophy
C1389118 BXGD012966 Peroneal muscle atrophy
C1449563 BXGD013086 Cardiomyopathy, Familial Idiopathic Cardiovascular Diseases
C1450052 BXGD013102 Tibial Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
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
C1536220 BXGD013341 ST segment elevation myocardial infarction Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C1609528 BXGD013441 Restrictive deficit on pulmonary function testing Respiratory Tract Diseases
C1611743 BXGD013456 Familial (FPAH)
C1698196 BXGD013513 Muscle Weakness Upper Limb Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1832931 BXGD013885 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C1834481 BXGD013975 CARDIOMYOPATHY, DILATED, 1S Cardiovascular Diseases
C1834582 BXGD013982 MYELOPROLIFERATIVE SYNDROME, TRANSIENT Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
C1836003 BXGD014069 Facial diplegia Infections; Nervous System Diseases; Stomatognathic Diseases
C1836038 BXGD014073 Poor head control Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836047 BXGD014074 Long face
C1836057 BXGD014076 Muscle fiber splitting
C1836118 BXGD014079 LEFT VENTRICULAR NONCOMPACTION 2
C1836150 BXGD014082 Gait imbalance
C1836296 BXGD014105 Muscle Weakness Lower Limb Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1836767 BXGD014159 Proximal lower limb amyotrophy
C1837108 BXGD014199 Decreased muscle mass
C1837262 BXGD014215 Increased muscle lipid content
C1837342 BXGD014222 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1837352 BXGD014223 Childhood onset
C1837658 BXGD014257 Gross motor development delay Mental Disorders
C1838244 BXGD014304 TIBIAL MUSCULAR DYSTROPHY, TARDIVE Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1839546 BXGD014385 Microretrognathia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C1839630 BXGD014391 Severe muscular hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1839832 BXGD014415 Noncompaction cardiomyopathy Cardiovascular Diseases
C1842170 BXGD014503 Centrally nucleated skeletal muscle fibers
C1843057 BXGD014552 Calf muscle hypertrophy
C1843637 BXGD014597 Neck flexor weakness
C1843643 BXGD014598 Nocturnal hypoventilation Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C1843687 BXGD014602 ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C1843697 BXGD014603 Axial muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1843700 BXGD014604 Increased variability in muscle fiber diameter
C1849367 BXGD015046 Nasal bridge wide
C1850674 BXGD015170 MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases
C1851542 BXGD015217 Limited hip movement
C1853932 BXGD015366 Rimmed vacuoles on biopsy
C1854301 BXGD015391 Motor delay Mental Disorders
C1854387 BXGD015396 Type 1 muscle fiber predominance
C1854494 BXGD015409 Slow progression
C1855285 BXGD015483 Protruding ear
C1856872 BXGD015647 Down-sloping shoulders
C1858025 BXGD015760 Spinal rigidity
C1858033 BXGD015762 Asymmetry of the thorax
C1858091 BXGD015771 Long fingers
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858763 BXGD015827 Cardiomyopathy, Dilated, 1g Cardiovascular Diseases
C1861065 BXGD016012 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C1861403 BXGD016045 Variable expressivity
C1863599 BXGD016184 Hereditary Myopathy with Early Respiratory Failure Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases
C1864449 BXGD016231 Limited neck flexion
C1866141 BXGD016379 Foot dorsiflexor weakness
C1868938 BXGD016542 End stage cardiac failure
C1869123 BXGD016553 Limb-girdle muscular dystrophy type 2A Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1956257 BXGD016623 Pulmonary Stenosis Cardiovascular Diseases
C1960469 BXGD016664 Left ventricular noncompaction Cardiovascular Diseases
C2228039 BXGD016957 Ankle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2585653 BXGD017139 Persistent atrial fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C2673677 BXGD017221 Myopathy, Early-Onset, with Fatal Cardiomyopathy Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
C2678065 BXGD017398 Myofibrillar Myopathy Musculoskeletal Diseases; Nervous System Diseases
C2919142 BXGD017867 Short Stature, CTCAE
C2939186 BXGD018176 Disturbance in mood Mental Disorders
C2939447 BXGD018179 Right ventricular failure Cardiovascular Diseases
C2960127 BXGD018197 Heart failure with normal ejection fraction Cardiovascular Diseases
C2973725 BXGD018205 Pulmonary arterial hypertension Respiratory Tract Diseases; Cardiovascular Diseases
C3150620 BXGD018314 Distal upper limb muscle weakness
C3165106 BXGD018532 Infiltrating duct carcinoma of female breast Neoplasms; Skin and Connective Tissue Diseases
C3266262 BXGD018600 Multiple Chronic Conditions Pathological Conditions, Signs and Symptoms
C3277184 BXGD018709 Decreased patellar reflex
C3277226 BXGD018711 Restrictive ventilatory defect
C3468561 BXGD018908 familial atrial fibrillation Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C3494422 BXGD018966 Retrognathia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C3495559 BXGD018994 Juvenile arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C3645536 BXGD019247 Autosomal Recessive Centronuclear Myopathy Musculoskeletal Diseases; Nervous System Diseases
C3805969 BXGD019495 Scapular muscle atrophy
C3806467 BXGD019513 Respiratory insufficiency due to muscle weakness Respiratory Tract Diseases
C3807025 BXGD019529 Intermittent episodes of respiratory insufficiency due to muscle weakness
C3887499 BXGD019884 Renal cyst Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3890602 BXGD020024 Bodily Pain Pathological Conditions, Signs and Symptoms
C4021054 BXGD020536 Reduced muscle collagen VI
C4021133 BXGD020563 Left ventricular noncompaction cardiomyopathy Pathological Conditions, Signs and Symptoms
C4021726 BXGD020735 EMG: myopathic abnormalities Musculoskeletal Diseases; Nervous System Diseases
C4021728 BXGD020737 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
C4021765 BXGD020764 Morphological abnormality of the central nervous system
C4021803 BXGD020792 Abnormal eyelid morphology
C4022659 BXGD020946 Mitochondrial depletion
C4022792 BXGD020999 Reduced ejection fraction
C4023223 BXGD021149 Atrial reentry tachycardia
C4024201 BXGD021302 Low-output congestive heart failure Cardiovascular Diseases
C4024608 BXGD021339 Necrotizing myopathy Musculoskeletal Diseases; Nervous System Diseases
C4024612 BXGD021343 Tibialis muscle weakness
C4281993 BXGD022418 Neonatal respiratory distress Respiratory Tract Diseases
C4509226 BXGD022972 Heart failure with preserved ejection fraction [HFpEF]
C4521042 BXGD023055 Complete Trisomy 21 Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C4531255 BXGD023210 Internally nucleated skeletal muscle fibers
C4551472 BXGD023303 Hypertrophic obstructive cardiomyopathy Cardiovascular Diseases
C4551488 BXGD023314 Bifid uvula
C4551675 BXGD023384 Keratoderma, Palmoplantar Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
C4552004 BXGD023476 Distal Myopathy 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C4552811 BXGD023526 Generalized Muscle Weakness, CTCAE
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0000436 Glycerol 92.09
BXGC0002586 Calcium 40.08
BXGC0003705 Chloride 35.45
BXGC0004266 2-Propanol 60.1
BXGC0037687 (4S)-2-methylpentane-2,4-diol 118.1
BXGC0049447 acetate 59.01
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