| Disease ID | Source | Name | Description |
| 617158 | OMIM | Myopathy, distal, with rimmed vacuoles (DMRV) | An autosomal dominant myopathy with adult onset, characterized by muscle weakness of the distal upper and lower limbs, walking difficulties, and proximal weakness of the shoulder girdle muscles. Muscle biopsy shows rimmed vacuoles. The disease is caused by variants affecting the gene represented in this entry. |
| 617145 | OMIM | Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset (NADGP) | A neurodegenerative disorder characterized by gait abnormalities, ataxia, dysarthria, dystonia, vertical gaze palsy, and cognitive decline. Disease onset is in childhood or adolescence. NADGP transmission pattern is consistent with autosomal recessive inheritance. The disease is caused by variants affecting the gene represented in this entry. |
| 167250 | OMIM | Paget disease of bone 3 (PDB3) | A disorder of bone remodeling characterized by increased bone turnover affecting one or more sites throughout the skeleton, primarily the axial skeleton. Osteoclastic overactivity followed by compensatory osteoblastic activity leads to a structurally disorganized mosaic of bone (woven bone), which is mechanically weaker, larger, less compact, more vascular, and more susceptible to fracture than normal adult lamellar bone. The disease is caused by variants affecting the gene represented in this entry. |
| 616437 | OMIM | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 (FTDALS3) | A neurodegenerative disorder characterized by frontotemporal dementia and/or amyotrophic lateral sclerosis in affected individuals. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis. Some FTDALS3 patients may also develop Paget disease of bone. The disease is caused by variants affecting the gene represented in this entry. |