Version: 8.0.0
Date: Tue Jan 28 2025
3 results
Disease Genes: vps-54 (Cel)

amyotrophic lateral sclerosis type 1

Disease
Source: DOID:0060193
Definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS.
Genes: vps-54 (Cel)

motor neuron disease

Disease
Source: DOID:231
Definition: A neurodegenerative disease that is located_in the motor neurons.
Genes: vps-54 (Cel)

Werdnig-Hoffmann disease

Disease
Source: DOID:13137
Definition: A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13.
Genes: vps-54 (Cel)