| Disease ID | Source | Name | Description |
| 535000 | OMIM | Leber hereditary optic neuropathy (LHON) | A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. The disease is caused by variants affecting the gene represented in this entry. |
| 540000 | OMIM | Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome (MELAS) | Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness. The disease is caused by variants affecting the gene represented in this entry. |
| 125853 | OMIM | Diabetes mellitus, non-insulin-dependent (NIDDM) | A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to the body's own insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. The gene represented in this entry may be involved in disease pathogenesis. |
| 502500 | OMIM | Alzheimer disease mitochondrial (AD-MT) | Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. Disease susceptibility may be associated with variants affecting the gene represented in this entry. |