* We recommend a score >= 0.08 for meaningful Gene-Disease associations
GeneID | Gene_Symbol | DisGeNet_diseaseID | Disease_name | ![]() | DisGeNet_sourceDB |
4534 | MTM1 | C0410203 | X-linked centronuclear myopathy | 0.69236270528959 | BEFREE;CTD_human;MGD;ORPHANET;UNIPROT |
4534 | MTM1 | C0752282 | Congenital Structural Myopathy | 0.215616360568195 | BEFREE;CTD_human;LHGDN |
4534 | MTM1 | C0746674 | Generalized muscle weakness | 0.200274726784213 | BEFREE;HPO |
4534 | MTM1 | C0036572 | Seizures | 0.200274726784213 | BEFREE;HPO |
4534 | MTM1 | C0427055 | Facial Paresis | 0.200274726784213 | BEFREE;HPO |
4534 | MTM1 | C0424448 | Mask-like facies | 0.2 | HPO |
4534 | MTM1 | C0852283 | Respiratory Distress Syndrome | 0.2 | HPO |
4534 | MTM1 | C0700208 | Acquired scoliosis | 0.2 | HPO |
4534 | MTM1 | C0575081 | Gait abnormality | 0.2 | HPO |
4534 | MTM1 | C0541794 | Skeletal muscle atrophy | 0.2 | HPO |
4534 | MTM1 | C0476403 | Electromyogram abnormal | 0.2 | HPO |
4534 | MTM1 | C0240479 | Neck muscle weakness | 0.2 | HPO |
4534 | MTM1 | C0239882 | Head tremor | 0.2 | HPO |
4534 | MTM1 | C0376175 | Bell Palsy | 0.2 | HPO |
4534 | MTM1 | C0003706 | Arachnodactyly | 0.2 | HPO |
4534 | MTM1 | C0278124 | Absent tendon reflex | 0.2 | HPO |
4534 | MTM1 | C0270948 | Neurogenic Muscular Atrophy | 0.2 | HPO |
4534 | MTM1 | C0241772 | Reflex, Deep Tendon, Absent | 0.2 | HPO |
4534 | MTM1 | C0240635 | Byzanthine arch palate | 0.2 | HPO |
4534 | MTM1 | C1849121 | Thin face | 0.2 | HPO |
4534 | MTM1 | C4280664 | Big calvaria | 0.2 | HPO |
4534 | MTM1 | C4280663 | Increased size of cranium | 0.2 | HPO |
4534 | MTM1 | C4255213 | Increased size of skull | 0.2 | HPO |
4534 | MTM1 | C4083076 | Increased head circumference | 0.2 | HPO |
4534 | MTM1 | C4025279 | Respiratory failure requiring assisted ventilation | 0.2 | HPO |
4534 | MTM1 | C4021168 | Slender toe | 0.2 | HPO |
4534 | MTM1 | C3279149 | Liver dysfunction, mild | 0.2 | HPO |
4534 | MTM1 | C1858719 | Facial muscle weakness of muscles innervated by CN VII | 0.2 | HPO |
4534 | MTM1 | C1850530 | Flexion contractures of joints | 0.2 | HPO |
4534 | MTM1 | C0333068 | Flexion contracture | 0.2 | HPO |
4534 | MTM1 | C1846169 | Myotubular Myopathy with Abnormal Genital Development | 0.2 | ORPHANET |
4534 | MTM1 | C1845977 | X- linked recessive | 0.2 | HPO |
4534 | MTM1 | C1843479 | Neurogenic muscle atrophy, especially in the lower limbs | 0.2 | HPO |
4534 | MTM1 | C1841659 | Atrioventricular nodal disease | 0.2 | HPO |
4534 | MTM1 | C1839630 | Hypotonia, severe | 0.2 | HPO |
4534 | MTM1 | C1839271 | Birth length greater than 97th percentile | 0.2 | HPO |
4534 | MTM1 | C1837463 | Narrow face | 0.2 | HPO |
4534 | MTM1 | C1836047 | Long face | 0.2 | HPO |
4534 | MTM1 | C0234958 | muscle degeneration | 0.2 | HPO |
4534 | MTM1 | C0004245 | Atrioventricular Block | 0.2 | HPO |
4534 | MTM1 | C0005745 | Blepharoptosis | 0.2 | HPO |
4534 | MTM1 | C0009917 | Contracture | 0.2 | HPO |
4534 | MTM1 | C0009918 | Contracture of joint | 0.2 | HPO |
4534 | MTM1 | C0010417 | Cryptorchidism | 0.2 | HPO |
4534 | MTM1 | C0011981 | Diaphragmatic Eventration | 0.2 | HPO |
4534 | MTM1 | C0014544 | Epilepsy | 0.2 | HPO |
4534 | MTM1 | C0018920 | Hemangioma, Cavernous | 0.2 | HPO |
4534 | MTM1 | C0020224 | Polyhydramnios | 0.2 | HPO |
4534 | MTM1 | C0020255 | Hydrocephalus | 0.2 | HPO |
4534 | MTM1 | C0026827 | Muscle hypotonia | 0.2 | HPO |
4534 | MTM1 | C0034194 | Pyloric Stenosis | 0.2 | HPO |
4534 | MTM1 | C0037932 | Curvature of spine | 0.2 | HPO |
4534 | MTM1 | C0235659 | Reduced fetal movement | 0.2 | HPO |
4534 | MTM1 | C0234146 | Absent reflex | 0.2 | HPO |
4534 | MTM1 | C0162674 | Chronic progressive external ophthalmoplegia | 0.2 | HPO |
4534 | MTM1 | C0086439 | Hypokinesia | 0.2 | HPO |
4534 | MTM1 | C0086565 | Liver Dysfunction | 0.2 | HPO |
4534 | MTM1 | C0232744 | Decreased liver function | 0.2 | HPO |
4534 | MTM1 | C0162292 | External Ophthalmoplegia | 0.2 | HPO |
4534 | MTM1 | C0175709 | Centronuclear myopathy | 0.0101648910158847 | BEFREE |
4534 | MTM1 | C0026848 | Myopathy | 0.0032967214105572 | BEFREE |
4534 | MTM1 | C0009404 | Colorectal Neoplasms | 0.002407028523288 | GAD |
4534 | MTM1 | C0920269 | Microsatellite Instability | 0.002407028523288 | GAD |
4534 | MTM1 | C0038356 | Stomach Neoplasms | 0.002407028523288 | GAD |
4534 | MTM1 | C0007959 | Charcot-Marie-Tooth Disease | 0.0019230874894917 | BEFREE |
4534 | MTM1 | C0031117 | Peripheral Neuropathy | 0.0008241803526393 | BEFREE |
4534 | MTM1 | C0027868 | Neuromuscular Diseases | 0.0008241803526393 | BEFREE |
4534 | MTM1 | C0343239 | Benign congenital hypotonia | 0.0005494535684262 | BEFREE |
4534 | MTM1 | C0270960 | Congenital myopathy (disorder) | 0.0005494535684262 | BEFREE |
4534 | MTM1 | C0021290 | Neonatal disorder | 0.0005494535684262 | BEFREE |
4534 | MTM1 | C2267233 | Neonatal Hypotonia | 0.0005494535684262 | BEFREE |
4534 | MTM1 | C0270971 | Floppy infant syndrome | 0.0005494535684262 | BEFREE |
4534 | MTM1 | C0442874 | Neuropathy | 0.0005494535684262 | BEFREE |
4534 | MTM1 | C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | 0.0005494535684262 | BEFREE |
4534 | MTM1 | C1655035 | congenital muscle disorder | 0.0005494535684262 | BEFREE |
4534 | MTM1 | C2875316 | Myotubular (centronuclear) myopathy | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C2939465 | Deficiency of glucose-6-phosphate dehydrogenase | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C4082197 | Charcot-Marie-Tooth disease type 4 | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C0007193 | Cardiomyopathy, Dilated | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C0151514 | Atrophic condition of skin | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C1858278 | Charcot-Marie-Tooth disease, Type 4B2 | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C0151786 | Muscle Weakness | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C0021294 | Infant, Premature | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C0027126 | Myotonic Dystrophy | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C1834558 | Myopathy, Centronuclear, Autosomal Dominant | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C1832370 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C0028860 | Oculocerebrorenal Syndrome | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C0751401 | Ophthalmoparesis | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C0030552 | Paresis | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C0598589 | Inherited neuropathies | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C0524851 | Neurodegenerative Disorders | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C0524620 | Metabolic Syndrome X | 0.0002747267842131 | BEFREE |
4534 | MTM1 | C0476273 | Respiratory distress | 0.0002747267842131 | BEFREE |