Table 1 Sample of results for the first 5 subjects of Testset 1a using SCADDx on CTD KB. Showing top 5 diseases for each subject with most affected 5 genes of the subject
Subject ID | Top 5 genes (abs(\(\Delta\)G)) | Disease name | Disease score | Disease probability (Softmax) (%) | Predicted class label | True class label |
|---|---|---|---|---|---|---|
1 | PDIA3 (0.22) RALGDS (0.21) TNKS2 (0.21) NCKAP1L (0.21) ANXA6 (0.20) | Dysentery, Bacillary | 0.73 | 21.81 | Not RVI | Not RVI |
Colonic Diseases, Functional | 0.64 | 19.99 | ||||
Esophageal Motility Disorders | 0.64 | 19.99 | ||||
Hypochondriasis | 0.61 | 19.35 | ||||
Encephalitis, Herpes Simplex | 0.58 | 18.86 | ||||
2 | APBB1IP (0.33) HBB (0.29) TAGLN2 (0.27) USP34 (0.216) FAM106A (0.25) | Subdural Effusion | 0.65 | 23.33 | Not RVI | RVI |
Dysentery, Bacillary | 0.65 | 23.33 | ||||
Penile Neoplasms | 0.43 | 18.77 | ||||
Hepatitis, Viral, Animal | 0.35 | 17.36 | ||||
Antley-Bixler Syndrome Phenotype | 0.34 | 17.21 | ||||
3 | IFI27 (0.44) IFI44L (0.30) SPATS2L (0.29) IFI44 (0.29) RSAD2 (0.29) | Respiratory Viral Infection | 9.65 | 92.66 | RVI | RVI |
Failure to Thrive | 5.82 | 2.02 | ||||
Paraparesis, Tropical Spastic | 5.69 | 1.77 | ||||
Mitochondrial myopathy with lactic acidosis | 5.69 | 1.77 | ||||
Retroviridae Infections | 5.69 | 1.77 | ||||
4 | CSTA (0.16) KLRB1 (0.13) NDUFA1 (0.12) ATP5F1 (0.12) RPL36AP37 (0.12) | Extensively Drug-Resistant Tuberculosis | 0.39 | 22.7 | Not RVI | Not RVI |
Phantom Limb | 0.23 | 19.4 | ||||
Trochlear Nerve Diseases | 0.23 | 19.4 | ||||
Alexander Disease | 0.22 | 19.3 | ||||
Epilepsy, Benign Neonatal | 0.22 | 19.3 | ||||
5 | DMXL1 (0.22) BMI1 (0.20) MYBL1 (0.19) ZBTB11 (0.17) PLEKHF2 (0.17) | Osteosclerosis | 0.54 | 20.85 | Not RVI | Not RVI |
Echolalia | 0.53 | 20.78 | ||||
Contracture | 0.50 | 20.03 | ||||
Esophageal Stenosis | 0.49 | 19.81 | ||||
Appendiceal Neoplasms | 0.42 | 18.52 |