Glycogen Storage Disease Ixa

Glycogen Storage Disease Ixa(来自ICD-11)
别称:
Glycogen Storage Disease Type Ixa
Glycogen Storage Disease Type 9a
Glycogenosis Type Ixa
Glycogenosis Type 9a
Gsd Type Ixa
Gsd Type 9a
Gsd9a
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Glycogen Storage Disease Ixa, also known as glycogen storage disease type ixa, is related to glycogen storage disease due to liver phosphorylase kinase deficiency and glycogen storage disease ixc. An important gene associated with Glycogen Storage Disease Ixa is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2), and among its related pathways/superpathways are Metabolism and Activation of cAMP-Dependent PKA. Related phenotypes are Decreased viability and Increased shRNA abundance (Z-score > 2)
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参考文献
MALACARDS
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Unknown
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10
43
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