Fig. 1
From: Gene mutations in sporadic lymphangioleiomyomatosis and genotype–phenotype correlation analysis
Mutated genes and clinical features, including specimen information, symptoms, VEGF-D values, and the grade of lung lesions. The patient number (x-axis) and their corresponding features (y-axis) are shown. Clinical features are in black. Mutated genes with different mutation function types are shown in various colors, including red, orange, yellow, green and blue. *Path confirmed = Histopathologically confirmed LAM specimen; VEGF-D = vascular endothelial growth factor-D; AML = angiomyolipoma. The pathogenicity of each mutation is represented by P = pathogenic; L = likely pathogenic; and a blank cell = uncertain function. Mutation function annotation was provided by MyGenostics Co. following the American College of Medical Genetics and Genomics (ACMG) guidelines