Table 2.
Enrichment of S2B candidates in ALS and SMA DGs from diferent evidence sources.
| DGs not present in DisGeNet or OMIM | S2B candidates (206 proteins) | APID3HuRI network (10991 proteins) | Fold Enrichment | p-value | |
|---|---|---|---|---|---|
| Open Targets | ALS | 44 | 1242 | 1.89 | <10−5 |
| SMA | 8 | 152 | 2.80 | 0.005 | |
| Both | 6 | 72 | 4.45 | 0.001 | |
| DISEASES | ALS | 4 | 77 | 2.77 | 0.043 |
| SMA | 3 | 13 | 12.31 | 0.017 | |
| Both | 1 | 1 | 53.35 | <10−6 | |
| Pubmed abstracts | ALS | 72 | 1482 | 2.59 | <10−6 |
| SMA | 48 | 641 | 3.99 | <10−6 | |
| Both | 37 | 413 | 4.78 | <10−6 | |
Open Targets and DISEASES platforms were queried for ALS and SMA DGs. For the Pubmed abstracts category, a gene was considered associated with a disease if at least one abstract contained the gene symbol and the disease name (“Amyotrophic Lateral Sclerosis” or “Spinal Muscular Atrophy”). Abstract search was performed with the reutils R package. S2B candidates and interactome network nodes that were DGs identified through DisGeNet or OMIM were excluded from this analysis. Fold enrichment is the ratio between DG frequency in S2B candidates and DG frequency in APID3HuRI network. p-values were computed with an hypergeometric test. S2B candidates that are DGs according to these sources and the pmid of the associated abstracts are available in supplementary data.