Disease

Sotos Syndrome

About the Disease
Sotos Syndrome, also known as cerebral gigantism, is related to sotos syndrome 1 and sotos syndrome 3, and has symptoms including seizures An important gene associated with Sotos Syndrome is NSD1 (Nuclear Receptor Binding SET Domain Protein 1), and among its related pathways/superpathways are Myometrial relaxation and contraction pathways and Development IGF-1 receptor signaling. Affiliated tissues include bone, eye and kidney, and related phenotypes are coarse facial features and tall stature

Common Targets
NAP1L5 | IGF2R | G5728 | PLAGL1 | GNAS-AS1 | NSD1 | NNAT | FAM50B | NFIX | ZDBF2 | DIRAS3 | GNAS | MCTS2 | MEST | L3MBTL1 | H19 | IGF2 | INPP5F

疾病靶点研报
Sotos Syndrome

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