Table 5. Top 20 univariate markers across all outcome measures.
| Platform | Matrix | Symbol | Description | Total(36) | SMA Typestotal (12) | Disease onset total (5) | Current level of function total (17) | Respiratory support total (4) |
| Proteomics | Plasma | TNXB | Tenascin XB | 35 | 12 | 5 | 11 | 3 |
| Proteomics | Plasma | CILP2 | Cartilage Intermediate Layer Protein 2 | 35 | 12 | 5 | 11 | 3 |
| Proteomics | Plasma | COMP | Cartilage Oligomeric Protein | 34 | 12 | 5 | 11 | 3 |
| AAA | Plasma | Glu | L-glutamic acid | 32 | 12 | 4 | 10 | 3 |
| Proteomics | Plasma | CLEC3B | C-type lectin domain family 3, member B | 32 | 11 | 5 | 9 | 3 |
| Proteomics | Plasma | TNXB | Tenascin XB | 32 | 11 | 5 | 9 | 3 |
| Proteomics | Plasma | ADAMTSL4 | ADAMTSlike 4 | 32 | 10 | 4 | 11 | 3 |
| Proteomics | Plasma | THBS4 | Thrombospondin 4 | 30 | 12 | 5 | 8 | 2 |
| GC/MS | Urine | Pantothenic acid | 30 | 11 | 4 | 8 | 4 | |
| Proteomics | Plasma | OMD | Osteomodullin | 27 | 9 | 5 | 8 | 2 |
| Proteomics | Plasma | LUM | Lumican | 26 | 8 | 5 | 7 | 3 |
| Proteomics | Plasma | DPP4 | DPP4 | 26 | 9 | 4 | 8 | 2 |
| Proteomics | Plasma | PEPD | PEPD | 26 | 9 | 4 | 8 | 2 |
| GC/MS | Plasma | C10∶0-fatty-acid | 25 | 8 | 3 | 7 | 3 | |
| Proteomics | Plasma | CDH13 | Cadherin 13 | 25 | 10 | 4 | 6 | 3 |
| AAA | Plasma | Asp | L-aspartic acid | 24 | 8 | 4 | 6 | 3 |
| GC/MS | Urine | Inositol | 24 | 7 | 4 | 7 | 3 | |
| GC/MS | Urine | Uric acid | 23 | 8 | 2 | 7 | 3 | |
| AAA | Plasma | Hyp | Hypoxanthine | 22 | 9 | 1 | 7 | 2 |
| GC/MS | Plasma | Asp | L-Aspartic-acid | 22 | 9 | 4 | 4 | 2 |
Each numeric entry indicates the number of statistical tests in which the described analyte was found to be a statistically significant biomarker when evaluated for regression against the given outcome measures or categorical characteristics: SMA Types, Disease Onset, Current Level of Function and Respiratory Support. Each outcome measure or characteristic inherently has a certain number of possible sub-categories available for pairwise statistical testing (in parentheses for each outcome or characteristic): 12 for SMA Types, 5 for Disease Onset, 15 for current level of function and 4 for Respiratory Support (see Table S1 for details). The Total denotes the sum of all outcomes for which the protein is a marker and indicates the overall strength of the relationship between the analyte and SMA values; the maximum possible number for Total is 36, as all the analytes above are also statistical significant regressors with the MHMS outcome. AAA – Amino acid analysis; FFA – Free fatty acid; Q-VALUE – significance corrected for the effect of multiple comparisons; STD – Standard deviation; UCL – Upper 95% confidence limit; LCL – lower 95% confidence limit (on the value of slope). Slope values listed in red are positive values and those in green negative values.*These are distinct isoforms detected by the LC/MS method.