DisGeNET

DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.

Source Last Updated
DisGeNET July 29, 2024
Displaying entries 45876 - 45900 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID Gene Name UniProt ID ▲
C0006309 Brucellosis IL18R1 8809 interleukin 18 receptor 1 Q13478
C0409959 Osteoarthritis, Knee IL18R1 8809 interleukin 18 receptor 1 Q13478
C0034103 Pulpitis IL18R1 8809 interleukin 18 receptor 1 Q13478
C0343723 Neonatal chlamydial conjunctivitis IL18R1 8809 interleukin 18 receptor 1 Q13478
C2875316 Myotubular (centronuclear) myopathy MTM1 4534 myotubularin 1 Q13496
C0175709 Centronuclear myopathy MTM1 4534 myotubularin 1 Q13496
C0007959 Charcot-Marie-Tooth Disease MTM1 4534 myotubularin 1 Q13496
C0017661 IGA Glomerulonephritis MTM1 4534 myotubularin 1 Q13496
C0015469 Facial paralysis MTM1 4534 myotubularin 1 Q13496
C0752282 Congenital Structural Myopathy MTM1 4534 myotubularin 1 Q13496
C0410203 X-linked centronuclear myopathy MTM1 4534 myotubularin 1 Q13496
C1832399 Charcot-Marie-Tooth disease, Type 4B1 MTM1 4534 myotubularin 1 Q13496
C1834558 Myopathy, Centronuclear, Autosomal Dominant MTM1 4534 myotubularin 1 Q13496
C4082197 Charcot-Marie-Tooth disease type 4 MTM1 4534 myotubularin 1 Q13496
C0026848 Myopathy MTM1 4534 myotubularin 1 Q13496
C0546264 Congenital Fiber Type Disproportion MTM1 4534 myotubularin 1 Q13496
C0031117 Peripheral Neuropathy MTM1 4534 myotubularin 1 Q13496
C0018920 Hemangioma, Cavernous MTM1 4534 myotubularin 1 Q13496
C0011981 Diaphragmatic Eventration MTM1 4534 myotubularin 1 Q13496
C0678222 Breast Carcinoma MTM1 4534 myotubularin 1 Q13496
C0036439 Scoliosis, unspecified MTM1 4534 myotubularin 1 Q13496
C4721453 Peripheral Nervous System Diseases MTM1 4534 myotubularin 1 Q13496
C0028860 Oculocerebrorenal Syndrome MTM1 4534 myotubularin 1 Q13496
C0010417 Cryptorchidism MTM1 4534 myotubularin 1 Q13496
C1858278 Charcot-Marie-Tooth disease, Type 4B2 MTM1 4534 myotubularin 1 Q13496

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Last updated: August 19, 2024