Ectodermal Dysplasia and Immune Deficiency

Alias:
Ectodermal Dysplasia, Hypohidrotic, with Immune Deficiency
Hypohidrotic Ectodermal Dysplasia with Immune Deficiency
Anhidrotic Ectodermal Dysplasia with Immune Deficiency
Hyper-Igm Immunodeficiency with Hypohidrotic Ectodermal Dysplasia
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Basic Information
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Gene & Mutation
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References Literature
Ectodermal Dysplasia and Immune Deficiency, also known as ectodermal dysplasia, hypohidrotic, with immune deficiency, is related to hypohidrotic ectodermal dysplasia with immunodeficiency and ectodermal dysplasia and immunodeficiency 2. An important gene associated with Ectodermal Dysplasia and Immune Deficiency is IKBKG (Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma), and among its related pathways/superpathways are LT-BetaR Pathway and ATM Pathway. Affiliated tissues include t cells and b cells, and related phenotype is Increased shRNA abundance (Z-score > 2).
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Basic Information

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Reference
MALACARDS
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9
77
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Gene & Mutation

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