Table 2.
Rank | Gene | Entrez ID | Disorder | Mut. score | Score sc |
---|---|---|---|---|---|
1 | BRWD3 | 254 065 | XLMR | 2.86 | 7.16e-78 |
2 | IRAK1 | 3654 | – | 1.94 | 1.84e-71 |
3 | SYP | 6855 | XLMR | − | 8.97e-69 |
4 | BIRC4 | 331 | other | 37.04 | 4.28e-68 |
5 | MAGED1 | 9500 | – | 5.14 | 5.63e-68 |
6 | MORF4L2 | 9643 | – | − | 3.37e-66 |
7 | ZNF280C | 55 609 | – | − | 5.07e-65 |
8 | SYN1 | 6853 | XLMR | − | 1.15e-64 |
9 | CXorf6 | 10 046 | other | 12.00 | 1.19e-64 |
10 | ATP6AP2 | 10 159 | XLMR | − | 2.70e-64 |
11 | HCFC1 | 3054 | – | 27.82 | 1.65e-61 |
12 | PJA1 | 64 219 | – | 2.44 | 1.82e-61 |
13 | NGFRAP1 | 27 018 | – | − | 1.91e-61 |
14 | FAM50A | 9130 | – | 11.62 | 5.63e-61 |
15 | HUWE1 | 10 075 | XLMR | 46.75 | 1.62e-60 |
16 | GRIA3 | 2892 | XLMR | 13.00 | 1.14e-59 |
17 | PIGA | 5277 | other | − | 3.24e-59 |
18 | OGT | 8473 | – | 15.90 | 4.15e-59 |
19 | GNL3L | 54 552 | – | 22.49 | 1.68e-58 |
20 | WDR40C | 340 578 | – | 0.22 | 3.35e-58 |
Associations to disorders and mutation scores are as reported by Tarpey et al. Mutation scores reflect the conservation scores at missense positions and are summed over the single missense mutations found for each gene. Genes in bold face overlap with those in Table 3.