Elliptocytosis
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Elliptocytosis, Hereditary | C0013902 | EPB41 | 23664421, 1430200, 3134067 |
| EPB42 | 7772513, 1558976 | ||
| ACSL4 | |||
| GATA1 | |||
| GYPC | 8353290, 1884026 | ||
| SLC4A1 | 9600966, 1737855 | ||
| SPTA1 | 23664421 | ||
| SPTB | 1975598, 8226774, 23664421, 27906107 | ||
| AMMECR1 | |||
| KCNE5 | |||
| TRNT1 | |||
| NHLRC2 | |||
| Elliptocytosis 1 | C2678497 | EPB41 | 1430200, 3134067 |
| Elliptocytosis 4 | C1862324 | SLC4A1 | 23664421, 23339107 |
| ELLIPTOCYTOSIS 2 (disorder) | C1851741 | SPTA1 | 1679439, 2384601, 8193371, 8941647, 2568861, 1638030, 1541680, 8364215, 2794061, 2568862, 1878597, 8018926, 7772539 |
| ELLIPTOCYTOSIS 3 | C1866810 | SPTB | 8226774, 7883966, 1975598, 8018926 |