Showing entry for Fukutin-related protein


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT024623
Protein NameFukutin-related protein
Uniport IdQ9H9S5
GeneFKRP
Gene Id79147
DomainLicD
Pfam PF04991  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.7 Glycan biosynthesis and metabolism hsa00515 Mannose type O-glycan biosynthesis
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0035269 protein O-linked mannosylation
Biological Process GO:0016485 protein processing
molecular function GO:0002162 dystroglycan binding
molecular function GO:0016740 transferase activity
cellular component GO:0005829 cytosol
cellular component GO:0005615 extracellular space
cellular component GO:0005794 Golgi apparatus
cellular component GO:0000139 Golgi membrane
cellular component GO:0016021 integral component of membrane
cellular component GO:0005654 nucleoplasm
cellular component GO:0005791 rough endoplasmic reticulum
cellular component GO:0042383 sarcolemma
Reactome
Pathway Id Pathway Name
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0003119 BXGD000177 Anophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0003466 BXGD000193 Anus, Imperforate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
C0003706 BXGD000215 Arachnodactyly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0007193 BXGD000451 Cardiomyopathy, Dilated Cardiovascular Diseases
C0008924 BXGD000574 Cleft upper lip Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
C0008925 BXGD000575 Cleft Palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
C0009024 BXGD000578 Clonus Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0009363 BXGD000599 Congenital ocular coloboma (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0010038 BXGD000643 Corneal Opacity Eye Diseases
C0010417 BXGD000670 Cryptorchidism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
C0010709 BXGD000689 Cyst Pathological Conditions, Signs and Symptoms; Neoplasms
C0010964 BXGD000692 Dandy-Walker Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0011854 BXGD000753 Diabetes Mellitus, Insulin-Dependent Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
C0013404 BXGD000833 Dyspnea Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C0014067 BXGD000885 Occipital Encephalocele Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0015469 BXGD000996 Facial paralysis Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases
C0017601 BXGD001125 Glaucoma Eye Diseases
C0018681 BXGD001214 Headache Pathological Conditions, Signs and Symptoms
C0018798 BXGD001223 Congenital Heart Defects Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
C0018801 BXGD001226 Heart failure Cardiovascular Diseases
C0018802 BXGD001227 Congestive heart failure Cardiovascular Diseases
C0020255 BXGD001369 Hydrocephalus Nervous System Diseases
C0020302 BXGD001373 Hydrophthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0022821 BXGD001590 Kyphosis deformity of spine Musculoskeletal Diseases
C0023434 BXGD001643 Chronic Lymphocytic Leukemia Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
C0024003 BXGD001726 Lordosis Musculoskeletal Diseases
C0024421 BXGD001770 Macroglossia Stomatognathic Diseases
C0025362 BXGD001866 Mental Retardation Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0025958 BXGD001882 Microcephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0026010 BXGD001886 Microphthalmos Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0026106 BXGD001889 Mild Mental Retardation Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0026826 BXGD001935 Muscle Hypertonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0026827 BXGD001936 Muscle hypotonia Pathological Conditions, Signs and Symptoms; 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
C0027092 BXGD001971 Myopia Eye Diseases
C0027121 BXGD001973 Myositis Musculoskeletal Diseases; Nervous System Diseases
C0027868 BXGD002053 Neuromuscular Diseases Nervous System Diseases
C0029124 BXGD002113 Optic Atrophy Eye Diseases; Nervous System Diseases
C0030193 BXGD002191 Pain Pathological Conditions, Signs and Symptoms
C0030252 BXGD002199 Palpitations Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
C0030554 BXGD002239 Paresthesia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0035229 BXGD002516 Respiratory Insufficiency Respiratory Tract Diseases
C0035305 BXGD002529 Retinal Detachment Eye Diseases
C0035313 BXGD002532 Retinal Dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0035334 BXGD002539 Retinitis Pigmentosa Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0035410 BXGD002546 Rhabdomyolysis Musculoskeletal Diseases
C0036439 BXGD002615 Scoliosis, unspecified Musculoskeletal Diseases
C0036572 BXGD002625 Seizures Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0036857 BXGD002638 Severe intellectual disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0037763 BXGD002699 Spasm Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0037822 BXGD002706 Speech Disorders Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0038379 BXGD002752 Strabismus Eye Diseases; Nervous System Diseases
C0040264 BXGD002857 Tinnitus Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0042514 BXGD002989 Tachycardia, Ventricular Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0042571 BXGD002991 Vertigo Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
C0079541 BXGD003081 Holoprosencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0086543 BXGD003294 Cataract Eye Diseases
C0149721 BXGD003349 Left Ventricular Hypertrophy Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0151611 BXGD003447 Electroencephalogram abnormal Nervous System 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
C0152423 BXGD003587 Congenital small ears Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
C0175754 BXGD004015 Agenesis of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0206157 BXGD004165 Myopathies, Nemaline Musculoskeletal Diseases; Nervous System Diseases
C0221355 BXGD004447 Macrocephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0221629 BXGD004467 Proximal muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0231274 BXGD004490 Intolerant of heat
C0231528 BXGD004496 Myalgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0231712 BXGD004519 Waddling gait Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0232466 BXGD004543 Feeding difficulties
C0233794 BXGD004618 Memory impairment Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
C0234132 BXGD004623 Pyramidal sign Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234146 BXGD004626 Absent reflex Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0234958 BXGD004702 Muscle degeneration Musculoskeletal Diseases
C0235831 BXGD004773 Renal Cell Dysplasia Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0239067 BXGD004961 Difficulty walking up stairs Pathological Conditions, Signs and Symptoms
C0239234 BXGD004974 Low set ears
C0240063 BXGD005015 Coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0240953 BXGD005067 Winged scapula
C0241005 BXGD005072 Creatine phosphokinase serum increased
C0241237 BXGD005088 Difficulty standing Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0242698 BXGD005189 Ventricular Dysfunction, Left Cardiovascular Diseases
C0265221 BXGD005470 Walker-Warburg congenital muscular dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0266435 BXGD005668 Congenital hypoplasia of penis Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0266449 BXGD005670 Congenital anomaly of brain Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases
C0266456 BXGD005672 Meningoencephalocele Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266464 BXGD005676 Polymicrogyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266470 BXGD005678 Cerebellar Hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C0266483 BXGD005680 Pachygyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266491 BXGD005683 Neuronal heterotopia Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0266544 BXGD005691 Microcornea Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0266551 BXGD005693 Congenital coloboma of iris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0270960 BXGD006141 Congenital myopathy (disorder) Musculoskeletal Diseases; Nervous System Diseases
C0270962 BXGD006142 Multi-core congenital myopathy Musculoskeletal Diseases; Nervous System Diseases
C0270968 BXGD006143 Limb-girdle muscular dystrophy type 2H Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0311394 BXGD006884 Difficulty walking Pathological Conditions, Signs and Symptoms
C0332878 BXGD006904 Congenital contracture Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0338502 BXGD007192 Hypoplasia of the optic nerve Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0338656 BXGD007211 Impaired cognition Mental Disorders
C0344482 BXGD007678 Hypoplasia of corpus callosum Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0344530 BXGD007688 Congenital keratoglobus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0344559 BXGD007695 Irido-corneo-trabecular dysgenesis (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
C0345392 BXGD007732 Congenital kyphoscoliosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C0375206 BXGD007973 Hemiplegia/hemiparesis
C0410174 BXGD008410 Fukuyama Type Congenital Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0410264 BXGD008423 Contracture of tendo achilles
C0427063 BXGD008602 Shoulder girdle weakness
C0427064 BXGD008603 Pelvic girdle weakness Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0427144 BXGD008607 Toe-walking gait
C0431371 BXGD008676 Absence of septum pellucidum Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0431376 BXGD008678 Cobblestone Lissencephaly Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0431478 BXGD008692 Posteriorly rotated ear
C0432103 BXGD008722 Submucous cleft of hard palate Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C0456909 BXGD008883 Blindness Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C0457133 BXGD008884 Muscle eye brain disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C0476403 BXGD008992 Electromyogram abnormal
C0497552 BXGD009067 Congenital neurologic anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C0518656 BXGD009071 Chronic fatigue Pathological Conditions, Signs and Symptoms
C0520947 BXGD009126 Clumsiness - motor delay Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C0521694 BXGD009164 Atrophic retina Eye Diseases
C0522055 BXGD009189 Electrocardiogram abnormal Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
C0541794 BXGD009262 Skeletal muscle atrophy
C0546264 BXGD009330 Congenital Fiber Type Disproportion Musculoskeletal Diseases; Nervous System Diseases
C0556280 BXGD009440 Gross motor impairment
C0557874 BXGD009444 Global developmental delay
C0560346 BXGD009475 Difficulty running Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0575081 BXGD009512 Gait abnormality Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0575157 BXGD009514 Deformity of spine
C0575158 BXGD009515 Kyphoscoliosis deformity of spine Musculoskeletal Diseases
C0600033 BXGD009682 Acquired Kyphoscoliosis Musculoskeletal 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
C0740279 BXGD009973 Cerebellar atrophy
C0746674 BXGD010147 Generalized muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C0751951 BXGD010648 Central Core Myopathy (disorder) Musculoskeletal Diseases; Nervous System Diseases
C0850703 BXGD010905 Frequent falls Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C0854723 BXGD011026 Retinal Dystrophies Eye Diseases
C0878544 BXGD011368 Cardiomyopathies Cardiovascular Diseases
C0917713 BXGD011404 Becker Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C0948163 BXGD011511 Leukoaraiosis Pathological Conditions, Signs and Symptoms
C1145670 BXGD011764 Respiratory Failure Respiratory Tract Diseases
C1184923 BXGD011800 Lumbar hyperlordosis Musculoskeletal Diseases
C1261470 BXGD011854 Congenital meningocele Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C1387005 BXGD012953 Penis agenesis Male Urogenital Diseases
C1449563 BXGD013086 Cardiomyopathy, Familial Idiopathic Cardiovascular Diseases
C1531647 BXGD013301 Cerebral ventriculomegaly Nervous System Diseases
C1609528 BXGD013441 Restrictive deficit on pulmonary function testing Respiratory Tract Diseases
C1834674 BXGD013987 BETHLEM MYOPATHY 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1836003 BXGD014069 Facial diplegia Infections; Nervous System Diseases; Stomatognathic Diseases
C1836150 BXGD014082 Gait imbalance
C1836373 BXGD014110 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C1837658 BXGD014257 Gross motor development delay Mental Disorders
C1839630 BXGD014391 Severe muscular hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1839666 BXGD014393 Calf muscle pseudohypertrophy
C1840379 BXGD014459 Cerebellar vermis hypoplasia
C1842552 BXGD014523 Limb-girdle muscle atrophy
C1842688 BXGD014532 Hypoplasia of the brainstem
C1843057 BXGD014552 Calf muscle hypertrophy
C1843392 BXGD014582 Death in childhood
C1843643 BXGD014598 Nocturnal hypoventilation Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
C1843697 BXGD014603 Axial muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1844820 BXGD014681 Range of joint movement increased
C1845155 BXGD014720 Exercise-induced myoglobinuria Musculoskeletal Diseases
C1846672 BXGD014834 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1846674 BXGD014835 Thigh hypertrophy
C1847117 BXGD014852 Dilated fourth ventricle
C1847759 BXGD014886 MUSCULAR DYSTROPHY, CONGENITAL, 1C Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1847762 BXGD014887 Cerebellar cyst
C1847766 BXGD014888 Shoulder girdle muscle atrophy
C1848207 BXGD014916 Poor speech Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1848529 BXGD014935 Hypoplasia of the pons
C1849097 BXGD015006 Loss of ability to walk
C1850438 BXGD015143 Postural hypotension with compensatory tachycardia Nervous System Diseases; Cardiovascular Diseases
C1850794 BXGD015178 Proximal amyotrophy
C1850830 BXGD015181 Exercise-induced myalgia Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1852502 BXGD015286 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT Musculoskeletal Diseases; Stomatognathic Diseases
C1852534 BXGD015289 Hypoplastic male external genitalia
C1854301 BXGD015391 Motor delay Mental Disorders
C1855285 BXGD015483 Protruding ear
C1857353 BXGD015697 Posterior fossa cyst
C1858120 BXGD015774 Generalized hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1858127 BXGD015775 Limb-girdle muscle weakness Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
C1859341 BXGD015878 Olivopontocerebellar hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
C1859692 BXGD015920 Decreased cervical spine mobility
C1860834 BXGD016006 Infantile muscular hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1861403 BXGD016045 Variable expressivity
C1861922 BXGD016094 CAMPOMELIC DYSPLASIA Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
C1866131 BXGD016377 Fusion of the cerebellar hemispheres
C1866190 BXGD016384 Atresia of the external auditory canal
C1866934 BXGD016427 Reduced tendon reflexes Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C1869123 BXGD016553 Limb-girdle muscular dystrophy type 2A Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C1879312 BXGD016571 Agyria Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
C2267233 BXGD017017 Neonatal Hypotonia Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2673431 BXGD017202 Abnormality of the periventricular white matter Pathological Conditions, Signs and Symptoms; Nervous System Diseases
C2674608 BXGD017250 Feeding difficulties in infancy
C2751052 BXGD017689 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4
C2827469 BXGD017798 Coronary Microvascular Disease
C2875316 BXGD017838 Myotubular (centronuclear) myopathy
C2931822 BXGD018068 Nasopharyngeal carcinoma Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases
C2936331 BXGD018106 Sarcoglycanopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
C2936332 BXGD018107 Alpha-Sarcoglycanopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases
C2936406 BXGD018115 alpha-Dystroglycanopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C3150412 BXGD018304 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3
C3150413 BXGD018305 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
C3150415 BXGD018306 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1
C3150416 BXGD018307 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
C3161330 BXGD018511 Profound intellectual disabilities Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3278322 BXGD018736 Cerebellar dysplasia
C3278509 BXGD018742 Spinal fusion
C3278923 BXGD018748 Dilated ventricles (finding)
C3279222 BXGD018751 Aplasia/Hypoplasia of the cerebellum
C3536714 BXGD019069 Renal dysplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C3665347 BXGD019279 Visual Impairment Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
C3714756 BXGD019429 Intellectual Disability Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
C3808250 BXGD019542 Reduced forced vital capacity
C3809221 BXGD019576 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
C4015098 BXGD020184 Hypoglycosylation of alpha-dystroglycan
C4015184 BXGD020191 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
C4016970 BXGD020393 MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 5
C4021082 BXGD020543 Fatty replacement of skeletal muscle
C4021642 BXGD020715 Abnormality of the Achilles tendon Musculoskeletal Diseases
C4021726 BXGD020735 EMG: myopathic abnormalities Musculoskeletal Diseases; Nervous System Diseases
C4021776 BXGD020772 Abnormality of the voice
C4022586 BXGD020927 Fatigable weakness of skeletal muscles
C4022646 BXGD020942 Reduced muscle fiber alpha dystroglycan
C4022651 BXGD020943 Reduced muscle fiber merosin
C4022771 BXGD020996 Decreased thalamic volume
C4022858 BXGD021015 Elevated aldolase level
C4022916 BXGD021037 Abnormal aldolase level
C4024608 BXGD021339 Necrotizing myopathy Musculoskeletal Diseases; Nervous System Diseases
C4024809 BXGD021425 Chorioretinal dysplasia
C4024883 BXGD021456 Hyperextensible skin of face
C4024905 BXGD021464 Abnormality of the pons
C4024923 BXGD021476 Diffuse white matter abnormalities Pathological Conditions, Signs and Symptoms
C4025773 BXGD021784 Aplasia/Hypoplasia involving the skeletal musculature
C4025790 BXGD021791 Specific learning disability
C4025845 BXGD021825 Abnormality iris morphology
C4073139 BXGD022046 Abnormality of the tongue muscle
C4073168 BXGD022057 Abnormal lactate dehydrogenase activity
C4082144 BXGD022081 Metatarsal Valgus Musculoskeletal Diseases
C4284790 BXGD022441 Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
C4551488 BXGD023314 Bifid uvula
C4551583 BXGD023361 Cerebral cortical atrophy
C4551761 BXGD023405 Excessive daytime sleepiness
C4551915 BXGD023441 Gait Disturbance, CTCAE
C4552811 BXGD023526 Generalized Muscle Weakness, CTCAE
C4554215 BXGD023563 Duchenne or Becker muscular dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0002588 Magnesium 24.31
BXGC0023767 n.a 152.07
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