| Disease ID | Source | Name | Description |
| 613435 | OMIM | Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia (ALS12) | A form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. ALS12 inheritance can be autosomal dominant or autosomal recessive. There is also sporadic occurrence. ALS12 patients may develop frontotemporal dementia. The disease is caused by variants affecting the gene represented in this entry. |
| 137760 | OMIM | Glaucoma 1, open angle, E (GLC1E) | A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place. The disease is caused by variants affecting the gene represented in this entry. |
| 606657 | OMIM | Glaucoma, normal pressure (NPG) | A primary glaucoma characterized by intraocular pression consistently within the statistically normal population range. Disease susceptibility is associated with variants affecting the gene represented in this entry. |