Disease

Keratitis-ichthyosis-deafness Syndrome

About the Disease
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant, also known as kid syndrome, is related to keratitis, hereditary and nonsyndromic hearing loss and deafness, dfnb1, and has symptoms including photophobia An important gene associated with Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are G-protein signaling G-Protein alpha-i signaling cascades and Myometrial relaxation and contraction pathways. Affiliated tissues include skin, eye and tongue, and related phenotypes are corneal neovascularization and abnormality of the dentition

Common Targets
AP1B1 | VPS33B | MAN2A2 | NIPAL4 | GJB2

疾病靶点研报
Keratitis-ichthyosis-deafness Syndrome

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