Details of VRK1 gene in Homo sapiens
IDs |
|---|
| Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
|
| VRK1 | --- | Q99986 | VRK1_HUMAN | 7443
| ENSG00000100749
| Serine/threonine-protein kinase VRK1 | congenital contract |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormal joint morphology, Abnormal muscle tone, Abnormality of central motor function, Abnormality of connective tissue, Abnormality of coordination, Abnormality of higher mental function, Abnormality of joint mobility, Abnormality of limb bone morphology, Abnormality of movement, Abnormality of muscle morphology, Abnormality of muscle physiology, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of the anterior horn cell, Abnormality of the central nervous system, Abnormality of the cerebellum, Abnormality of the foot, Abnormality of the glial cells, Abnormality of the hindbrain, Abnormality of the lower limb, Abnormality of the lung, Abnormality of the metencephalon, Abnormality of the motor neurons, Abnormality of the musculature, Abnormality of the nervous system, Abnormality of the peripheral nervous system, Abnormality of the pons, Abnormality of the respiratory system, Abnormality of the skeletal system, Age of onset, All, Amyotrophy, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebellum, Ataxia, Atrophy/Degeneration affecting the central nervous system, Atrophy/Degeneration involving motor neurons, Autosomal recessive inheritance, Cerebellar hypoplasia, Cognitive impairment, Congenital contractures, Congenital onset, Degeneration of anterior horn cells, EMG abnormality, EMG: neuropathic changes, Fasciculations, Flexion contracture, Functional respiratory abnormality, Gliosis, Hyperreflexia, Hypoplasia of the ventral pons, Intellectual disability, Involuntary movements, Mode of inheritance, Morphological abnormality of the central nervous system, Muscle weakness, Muscular hypotonia, Neuronal loss in central nervous system, Onset, Onset and clinical course, Pace of progression, Phenotypic abnormality, Pontocerebellar hypoplasia, Progressive disorder, Respiratory insufficiency, Spinal muscular atrophy, Upper motor neuron abnormality.
Orthologs in other species |
|---|
| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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