X-linked inhibitor of apoptosis
OMIM: 300079, Gene2Phenotype
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XIAP in Infantile enterocolitis & monogenic inflammatory bowel disease
Level 3: Gastrointestinal disorders
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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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Phenotypes
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XIAP in Gastrointestinal epithelial barrier disorders
Level 3: Gastrointestinal disorders
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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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Phenotypes
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XIAP in COVID-19 research
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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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Phenotypes
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XIAP in Intestinal failure or congenital diarrhoea
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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XIAP in Primary immunodeficiency or monogenic inflammatory bowel disease
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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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Phenotypes
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XIAP in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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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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XIAP in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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XIAP in Haemophagocytic syndrome with absent XIAP expression
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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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