decreased solitary pulmonary neuroendocrine cell number Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description decreased number of the specialized non-ciliated, round- to oval-shaped epithelial cells found as solitary cells in the nasal respiratory epithelium and the mucosa of the larynx, trachea and bronchi up to the terminal bronchioles; PNECs are the first cell type to differentiate during early fetal lung development, produce amine (e.g. serotonin, 5-HT) and peptides (e.g. bombesin, calcitonin) with growth factor-like properties, and appear to be involved in processes ranging from lung development and respiratory physiology to repair, disease and carcinogenesis (Mammalian Phenotype Ontology, MP_0010916)
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2 gene mutations causing the decreased solitary pulmonary neuroendocrine cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ASCL1 achaete-scute family bHLH transcription factor 1
NEUROD1 neuronal differentiation 1