Disease

Pontocerebellar Hypoplasia

About the Disease
Pontocerebellar Hypoplasia, also known as congenital pontocerebellar hypoplasia, is related to pontocerebellar hypoplasia, type 6 and pontocerebellar hypoplasia, type 2e. An important gene associated with Pontocerebellar Hypoplasia is TSEN54 (TRNA Splicing Endonuclease Subunit 54), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and tRNA processing. Affiliated tissues include pons, cerebellum and brain, and related phenotype is mortality/aging.

Common Targets
AIMP1 | SLC25A46 | CYTB | COASY | SEPSECS | 15-Lipoxygenase (nonspecified subtype) | EXOSC3 | MINPP1 | PCLO | RTEL1 | EXOSC1 | AMPD2 | HEATR5B | POLR3B | ATOH1 | VLDLR | TOE1 | PRDM13 | GPX4 | CASK | TSEN2 | TSEN54 | ACD | TENT4B | CLK2 | TBC1D23 | RELN | RARS2 | ALOX15 | ITPR1 | EXOSC9 | EXOSC8 | TSEN15

疾病靶点研报
Pontocerebellar Hypoplasia

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