* We recommend a score >= 0.08 for meaningful Gene-Disease associations

GeneID Gene_Symbol DisGeNet_diseaseID Disease_name DisGeNet score DisGeNet_sourceDB
4534MTM1C0410203X-linked centronuclear myopathy0.69236270528959BEFREE;CTD_human;MGD;ORPHANET;UNIPROT
4534MTM1C0752282Congenital Structural Myopathy0.215616360568195BEFREE;CTD_human;LHGDN
4534MTM1C0746674Generalized muscle weakness0.200274726784213BEFREE;HPO
4534MTM1C0036572Seizures0.200274726784213BEFREE;HPO
4534MTM1C0427055Facial Paresis0.200274726784213BEFREE;HPO
4534MTM1C0424448Mask-like facies0.2HPO
4534MTM1C0852283Respiratory Distress Syndrome0.2HPO
4534MTM1C0700208Acquired scoliosis0.2HPO
4534MTM1C0575081Gait abnormality0.2HPO
4534MTM1C0541794Skeletal muscle atrophy0.2HPO
4534MTM1C0476403Electromyogram abnormal0.2HPO
4534MTM1C0240479Neck muscle weakness0.2HPO
4534MTM1C0239882Head tremor0.2HPO
4534MTM1C0376175Bell Palsy0.2HPO
4534MTM1C0003706Arachnodactyly0.2HPO
4534MTM1C0278124Absent tendon reflex0.2HPO
4534MTM1C0270948Neurogenic Muscular Atrophy0.2HPO
4534MTM1C0241772Reflex, Deep Tendon, Absent0.2HPO
4534MTM1C0240635Byzanthine arch palate0.2HPO
4534MTM1C1849121Thin face0.2HPO
4534MTM1C4280664Big calvaria0.2HPO
4534MTM1C4280663Increased size of cranium0.2HPO
4534MTM1C4255213Increased size of skull0.2HPO
4534MTM1C4083076Increased head circumference0.2HPO
4534MTM1C4025279Respiratory failure requiring assisted ventilation0.2HPO
4534MTM1C4021168Slender toe0.2HPO
4534MTM1C3279149Liver dysfunction, mild0.2HPO
4534MTM1C1858719Facial muscle weakness of muscles innervated by CN VII0.2HPO
4534MTM1C1850530Flexion contractures of joints0.2HPO
4534MTM1C0333068Flexion contracture0.2HPO
4534MTM1C1846169Myotubular Myopathy with Abnormal Genital Development0.2ORPHANET
4534MTM1C1845977X- linked recessive0.2HPO
4534MTM1C1843479Neurogenic muscle atrophy, especially in the lower limbs0.2HPO
4534MTM1C1841659Atrioventricular nodal disease0.2HPO
4534MTM1C1839630Hypotonia, severe0.2HPO
4534MTM1C1839271Birth length greater than 97th percentile0.2HPO
4534MTM1C1837463Narrow face0.2HPO
4534MTM1C1836047Long face0.2HPO
4534MTM1C0234958muscle degeneration0.2HPO
4534MTM1C0004245Atrioventricular Block0.2HPO
4534MTM1C0005745Blepharoptosis0.2HPO
4534MTM1C0009917Contracture0.2HPO
4534MTM1C0009918Contracture of joint0.2HPO
4534MTM1C0010417Cryptorchidism0.2HPO
4534MTM1C0011981Diaphragmatic Eventration0.2HPO
4534MTM1C0014544Epilepsy0.2HPO
4534MTM1C0018920Hemangioma, Cavernous0.2HPO
4534MTM1C0020224Polyhydramnios0.2HPO
4534MTM1C0020255Hydrocephalus0.2HPO
4534MTM1C0026827Muscle hypotonia0.2HPO
4534MTM1C0034194Pyloric Stenosis0.2HPO
4534MTM1C0037932Curvature of spine0.2HPO
4534MTM1C0235659Reduced fetal movement0.2HPO
4534MTM1C0234146Absent reflex0.2HPO
4534MTM1C0162674Chronic progressive external ophthalmoplegia0.2HPO
4534MTM1C0086439Hypokinesia0.2HPO
4534MTM1C0086565Liver Dysfunction0.2HPO
4534MTM1C0232744Decreased liver function0.2HPO
4534MTM1C0162292External Ophthalmoplegia0.2HPO
4534MTM1C0175709Centronuclear myopathy0.0101648910158847BEFREE
4534MTM1C0026848Myopathy0.0032967214105572BEFREE
4534MTM1C0009404Colorectal Neoplasms0.002407028523288GAD
4534MTM1C0920269Microsatellite Instability0.002407028523288GAD
4534MTM1C0038356Stomach Neoplasms0.002407028523288GAD
4534MTM1C0007959Charcot-Marie-Tooth Disease0.0019230874894917BEFREE
4534MTM1C0031117Peripheral Neuropathy0.0008241803526393BEFREE
4534MTM1C0027868Neuromuscular Diseases0.0008241803526393BEFREE
4534MTM1C0343239Benign congenital hypotonia0.0005494535684262BEFREE
4534MTM1C0270960Congenital myopathy (disorder)0.0005494535684262BEFREE
4534MTM1C0021290Neonatal disorder0.0005494535684262BEFREE
4534MTM1C2267233Neonatal Hypotonia0.0005494535684262BEFREE
4534MTM1C0270971Floppy infant syndrome0.0005494535684262BEFREE
4534MTM1C0442874Neuropathy0.0005494535684262BEFREE
4534MTM1C1832399Charcot-Marie-Tooth disease, Type 4B10.0005494535684262BEFREE
4534MTM1C1655035congenital muscle disorder0.0005494535684262BEFREE
4534MTM1C2875316Myotubular (centronuclear) myopathy0.0002747267842131BEFREE
4534MTM1C2939465Deficiency of glucose-6-phosphate dehydrogenase0.0002747267842131BEFREE
4534MTM1C4082197Charcot-Marie-Tooth disease type 40.0002747267842131BEFREE
4534MTM1C0007193Cardiomyopathy, Dilated0.0002747267842131BEFREE
4534MTM1C0151514Atrophic condition of skin0.0002747267842131BEFREE
4534MTM1C1858278Charcot-Marie-Tooth disease, Type 4B20.0002747267842131BEFREE
4534MTM1C0151786Muscle Weakness0.0002747267842131BEFREE
4534MTM1C0021294Infant, Premature0.0002747267842131BEFREE
4534MTM1C0027126Myotonic Dystrophy0.0002747267842131BEFREE
4534MTM1C1834558Myopathy, Centronuclear, Autosomal Dominant0.0002747267842131BEFREE
4534MTM1C1832370MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED0.0002747267842131BEFREE
4534MTM1C0028860Oculocerebrorenal Syndrome0.0002747267842131BEFREE
4534MTM1C0751401Ophthalmoparesis0.0002747267842131BEFREE
4534MTM1C0030552Paresis0.0002747267842131BEFREE
4534MTM1C0598589Inherited neuropathies0.0002747267842131BEFREE
4534MTM1C0524851Neurodegenerative Disorders0.0002747267842131BEFREE
4534MTM1C0524620Metabolic Syndrome X0.0002747267842131BEFREE
4534MTM1C0476273Respiratory distress0.0002747267842131BEFREE