| Disease ID | Source | Name | Description |
| 162500 | OMIM | Hereditary neuropathy with liability to pressure palsies (HNPP) | A neurologic disorder characterized by transient episodes of decreased perception or peripheral nerve palsies after slight traction, compression or minor traumas. The disease is caused by variants affecting the gene represented in this entry. |
| 118300 | OMIM | Charcot-Marie-Tooth disease 1E (CMT1E) | An autosomal dominant form of Charcot-Marie-Tooth disease characterized by the association of sensorineural hearing loss with peripheral demyelinating neuropathy. The disease is caused by variants affecting the gene represented in this entry. |
| 118220 | OMIM | Charcot-Marie-Tooth disease 1A (CMT1A) | A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. The disease is caused by variants affecting the gene represented in this entry. |
| 145900 | OMIM | Dejerine-Sottas syndrome (DSS) | A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. Characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. The disease is caused by variants affecting the gene represented in this entry. |
| 139393 | OMIM | Inflammatory demyelinating polyneuropathy (IDP) | Putative autoimmune disorder presenting in an acute (AIDP) or chronic form (CIDP). The acute form is also known as Guillain-Barre syndrome. The disease may be caused by variants affecting the gene represented in this entry. |