Version: 8.0.0Date: Tue Jan 28 2025
Disease Genes: FIG4 (Hsa)
Disease
Source: DOID:10595
Definition: A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm.
Genes: FIG4 (Hsa)
Disease
Source: DOID:1289
Definition: A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
Genes: FIG4 (Hsa)
Disease
Source: DOID:0060589
Definition: A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21.
Genes: FIG4 (Hsa)
Source: DOID:0110184
Definition: A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21.
Genes: FIG4 (Hsa)
Source: DOID:0080923
Definition: A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21.
Genes: FIG4 (Hsa)
Source: DOID:0060202
Definition: An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6.
Genes: FIG4 (Hsa)