ubiquitin like modifier activating enzyme 1
OMIM: 314370, Gene2Phenotype
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UBA1 in Primary immunodeficiency or monogenic inflammatory bowel disease
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review | Other |
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UBA1 in Arthrogryposis
Level 3: Neuromuscular disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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UBA1 in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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UBA1 in Paediatric motor neuronopathies
Level 3: Motor and Sensory Disorders of the PNS
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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UBA1 in Hereditary neuropathy or pain disorder
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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UBA1 in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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UBA1 in Autoinflammatory disorders
Level 3: Primary immunodeficiency disorders
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review | Other |
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