Table 3.
Median rank ratios of probe genes across four tools
| Mode ofinheritance | Genes | VarElect | OMIMExplorer | Phenolyzer |
|---|---|---|---|---|
| AR/unknown | ATXN1L*, THAP11*, AP4B1, GLDN, POC1A, RNASEH2A, SGCB, SPTBN4, SUOX, DYSF, SMN1, CEP290 # , FKRP, CAPN, NPAT # , LAMA2, NEB | 4.83 | 3.17 | 17.51 |
| AD | FGF9, SEC16A, TFAP2A, ELN, GABRB3 # , CACNA1H # | 1.19 | 3.17 | 2.45 |
| AR/AD | LMNA, MYH7, MYBPC1, FBN1 # , RYR1 (3), ENPP1 # , COL6A2, TTN (2) | 0.23 | 1.1 | 1.93 |
| XL | DMD (15), FHL1 | 0.08 | 0.54 | 0.33 |
Values indicate normalized median rank ratios across 50 cases with full candidate gene list used to rank each. Lower value of median rank ratio indicates better ranking ability of the tool as it represents that the probe gene was ranked in top fractions of the gene list. Number of cases with the candidate gene are given in brackets if more than one case had the same candidate gene
AR-Autosomal Recessive, AD-Autosomal Dominant, XL-X linked
* Genes with unknown diseases or inheritance pattern
# Genes associated with disorders of known as well as unknown inheritance patterns