Details of DCTN1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| DCTN1 | --- | Q14203 | DCTN1_HUMAN | 1639
| E9PGE1
| G5E9H4 | Q9UIU1 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal emotion/affect behavior, Abnormal facial expression, Abnormality of body weight, Abnormality of central motor function, Abnormality of extrapyramidal motor function, Abnormality of facial musculature, Abnormality of facial soft tissue, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of skeletal morphology, Abnormality of the central nervous system, Abnormality of the cranial nerves, Abnormality of the face, Abnormality of the glial cells, Abnormality of the hand, Abnormality of the head, Abnormality of the larynx, Abnormality of the lower motor neuron, Abnormality of the lung, Abnormality of the motor neurons, Abnormality of the musculature, Abnormality of the musculature of the hand, Abnormality of the musculature of the limbs, Abnormality of the musculature of the upper limbs, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the respiratory system, Abnormality of the seventh cranial nerve, Abnormality of the skeletal system, Abnormality of the upper limb, Abnormality of the upper respiratory tract, Abnormality of the vocal cords, Abnormality of the voice, Adult onset, Age of onset, All, Amyotrophy, Apathy, Atrophy/Degeneration affecting the central nervous system, Autosomal dominant inheritance, Behavioural/Psychiatric Abnormality, Bradykinesia, Central hypoventilation, Cranial nerve paralysis, Decreased body weight, Decreased facial expression, Depression, Distal amyotrophy, Distal upper limb amyotrophy, Dysarthria, Dyspnea, Facial palsy, Functional respiratory abnormality, Gait disturbance, Gliosis, Growth abnormality, Hand muscle atrophy, Hoarse voice, Hypoventilation, Limb muscle weakness, Lower limb muscle weakness, Mask-like facies, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle weakness, Neurological speech impairment, Neuronal loss in central nervous system, Onset, Onset and clinical course, Pace of progression, Parkinsonism, Phenotypic abnormality, Rapidly progressive, Respiratory difficulties, Respiratory insufficiency, Rigidity, Short stepped shuffling gait, Shuffling gait, Sleep disturbance, Slow progression, Tremor, Upper limb amyotrophy, Vocal cord paralysis, Vocal cord paresis, Weak voice, Weight loss.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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