Version: 8.0.0
Date: Tue Jan 28 2025
6 results
Disease Genes: dctn1b (Dre)

amyotrophic lateral sclerosis

Disease
Source: DOID:332
Definition: A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
Genes: dctn1b (Dre)

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: dctn1b (Dre)

motor neuron disease

Disease
Source: DOID:231
Definition: A neurodegenerative disease that is located_in the motor neurons.
Genes: dctn1b (Dre)

synucleinopathy

Disease
Source: DOID:0050890
Definition: A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
Genes: dctn1b (Dre)

autosomal dominant distal hereditary motor neuronopathy 14

Disease
Source: DOID:0111202
Definition: An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1.
Genes: dctn1b (Dre)

Perry syndrome

Disease
Source: DOID:0060486
Definition: A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13.
Genes: dctn1b (Dre)