Table 2.
Phenome-wide comparison of DS Cohort and FS Cohort
| UMLS CUI code | Concept | DS individuals with the concept(%) | FS individuals with the concept (%) | DS individuals without the concept (%) | FS individuals without the concept (%) | OR | p value |
|---|---|---|---|---|---|---|---|
| C0751122 | Dravet syndrome | 36 (70.6) | 0 (0) | 15 (29.4) | 53 (100) | 129.60 | 0.00 |
| C1419856 | SCN1A | 28 (54.9) | 0 (0) | 23 (45.1) | 53 (100) | 65.74 | 0.00 |
| C1705236 | Deviation | 17 (33.3) | 4 (7.5) | 34 (66.7) | 49 (92.5) | 6.37 | 0.00 |
| C0259972 | Ketogenic diet | 13 (25.5) | 0 (0) | 38 (74.5) | 53 (100) | 18.47 | 0.01 |
| C0009952 | Febrile seizures | 21 (41.2) | 37 (69.8) | 30 (58.8) | 16 (30.2) | 0.34 | 0.01 |
| C0235195 | Sedation | 13 (25.5) | 4 (7.5) | 38 (74.5) | 49 (92.5) | 4.36 | 0.02 |
| C0027066 | Myoclonia | 11 (21.6) | 3 (5.7) | 40 (78.4) | 50 (94.3) | 4.77 | 0.02 |
| C0004134 | Ataxia | 9 (17.6) | 1 (1.9) | 42 (82.4) | 52 (98.1) | 11.57 | 0.02 |
| C0024115 | Pneumonia | 8 (15.7) | 0 (0) | 43 (84.3) | 53 (100) | 10.05 | 0.03 |
| C0684320 | Regression | 8 (15.7) | 0 (0) | 43 (84.3) | 53 (100) | 10.05 | 0.03 |
| C0234535 | Clonic | 17 (33.3) | 9 (17) | 34 (66.7) | 44 (83) | 2.56 | 0.05 |
| C0085639 | Fall | 8 (15.7) | 2 (3.8) | 43 (84.3) | 51 (96.2) | 4.93 | 0.05 |
| C3809175 | Prolonged seizure | 16 (31.4) | 8 (15.1) | 35 (29.6) | 45 (84.9) | 2.87 | 0.05 |
| C0014544 | Epilepsy | 41 (80.4) | 35 (66) | 10 (19.6) | 18 (34) | 2.34 | 0.06 |
| C0038220 | Status epilepticus | 15 (29.4) | 8 (15.1) | 36 (70.6) | 45 (84.9) | 2.45 | 0.07 |
| C0424230 | Psychomotor delay | 6 (11.8) | 0 (0) | 45 (88.2) | 53 (100) | 7.20 | 0.07 |
| C0549209 | Startle | 6 (11.8) | 0 (0) | 45 (88.2) | 53 (100) | 7.20 | 0.07 |
| C0855324 | Normal pulse pressure | 2 (3.9) | 8 (15.1) | 49 (96.1) | 52 (98.1) | 0.24 | 0.08 |
| C0026205 | Myosis | 7 (13.7) | 2 (3.8) | 44 (86.3) | 51 (96.2) | 4.22 | 0.08 |
| C0036572 | Seizures | 47 (92.9) | 44 (83) | 4 (7.8) | 9 (17) | 2.94 | 0.08 |
| C0271429 | Acute otitis media | 3 (5.9) | 9 (17) | 48 (94.1) | 44 (83) | 0.32 | 0.10 |
| C0003123 | Anorexia | 5 (9.8) | 0 (0) | 46 (90.2) | 53 (100) | 5.87 | 0.11 |
| C0013604 | Edema | 5 (9.8) | 1 (1.9) | 46 (90.2) | 52 (98.1) | 5.87 | 0.11 |
| C0035203 | Respiration | 5 (9.8) | 1 (1.9) | 46 (90.2) | 52 (98.1) | 5.87 | 0.11 |
| C0037763 | Spasms | 5 (9.8) | 1 (1.9) | 46 (90.2) | 52 (98.1) | 5.87 | 0.11 |
| C0034150 | Purpura | 2 (3.9) | 7 (13.2) | 49 (96.1) | 46 (86.8) | 0.28 | 0.12 |
| C0522336 | Rolling of eyes | 10 (19.6) | 18 (34) | 41 (80.4) | 35 (66) | 0.50 | 0.13 |
| C0231218 | Malaise | 1 (2) | 5 (9.4) | 50 (98) | 48 (90.6) | 0.20 | 0.15 |
| C0427008 | Stiffness | 1 (2) | 5 (9.4) | 50 (98) | 48 (90.6) | 0.20 | 0.15 |
| C1336751 | Flat | 1 (2) | 5 (9.4) | 50 (98) | 48 (90.6) | 0.20 | 0.15 |
| C3887612 | Pyschomotor agitation | 12 (23.5) | 7 (13.2) | 39 (76.5) | 46 (86.8) | 2.11 | 0.15 |
| C0042963 | Vomiting | 3 (5.9) | 8 (15.1) | 48 (94.1) | 45 (84.9) | 0.37 | 0.16 |
| C0036973 | Shiverings | 7 (13.7) | 3 (5.7) | 44 (86.3) | 50 (94.3) | 2.76 | 0.16 |
| C0751495 | Focal seizures | 7 (13.7) | 3 (5.7) | 44 (86.3) | 50 (94.3) | 2.76 | 0.16 |
| C2825055 | Recurrence | 21 (41.2) | 30 (56.6) | 30 (58.8) | 23 (43.4) | 0.58 | 0.17 |
| C0013473 | Eating disorders | 4 (7.8) | 0 (0) | 47 (92.9) | 53 (100) | 4.60 | 0.18 |
| C0018989 | Hemiparesis | 4 (7.8) | 1 (1.9) | 47 (92.9) | 52 (98.1) | 4.60 | 0.18 |
| C0020649 | Hypotension | 4 (7.8) | 0 (0) | 47 (92.9) | 53 (100) | 4.60 | 0.18 |
| C0032290 | Aspiration Pneumonia | 4 (7.8) | 0 (0) | 47 (92.9) | 53 (100) | 4.60 | 0.18 |
| C0037036 | Hypersalivation | 4 (7.8) | 0 (0) | 47 (92.9) | 53 (100) | 4.60 | 0.18 |
| C0038450 | Stridor | 4 (7.8) | 0 (0) | 47 (92.9) | 53 (100) | 4.60 | 0.18 |
| C0205721 | Nosocomial infection | 4 (7.8) | 1 (1.9) | 47 (92.9) | 52 (98.1) | 4.60 | 0.18 |
| C0333641 | Atrophy | 4 (7.8) | 0 (0) | 47 (92.9) | 53 (100) | 4.60 | 0.18 |
| C0349506 | Photosensitivity | 4 (7.8) | 0 (0) | 47 (92.9) | 53 (100) | 4.60 | 0.18 |
| C0428167 | FiO2 | 4 (7.8) | 1 (1.9) | 47 (92.9) | 52 (98.1) | 4.60 | 0.18 |
| C0865850 | Acute respiratory insufficiency | 4 (7.8) | 0 (0) | 47 (92.9) | 53 (100) | 4.60 | 0.18 |
| C1504405 | Pyramidal syndrome | 4 (7.8) | 0 (0) | 47 (92.9) | 53 (100) | 4.60 | 0.18 |
CUI concept unique identifiers