Additional file 2 of Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix

Additional file 2: Table S2. Tabulated genotypes. Consolidation and summary of all genotypes from curated MLD patients. For each genotype, the breakdown of all associated phenotypes in the literature is provided. Entropy, a measure of phenotypic variability for a genotype, and the phenotype matrix’s accuracy in predicting phenotypes are also included. ARSA, arylsulfatase A; CDS, coding sequence.补充材料2：表S2。列示基因型数据。本表格对经人工整理的异染性脑白质营养不良（Metachromatic Leukodystrophy, MLD）患者的全部基因型进行整合与汇总。针对每一种基因型，均提供了文献中记载的所有相关表型的细分情况；同时纳入了用于衡量基因型表型变异程度的熵值指标，以及表型矩阵在表型预测中的准确率。注：ARSA即芳基硫酸酯酶A（arylsulfatase A）；CDS即编码序列（coding sequence）。