Cystinuria
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Cystinuria | C0010691 | PPM1B | |
| SLC3A1 | 7573036, 16138908, 8792820, 12923163, 17880288, 22493502, 12234283, 20517292, 11748844, 9083097, 9186880, 16609684, 9768685, 15691362, 21255007, 25964309, 15635077, 18332091, 28049243, 11260385, 7539209, 9648062, 16374432, 11129328, 28717662, 8054986, 18704508, 28646536, 21677404, 8486766, 14991253, 17010017, 19782624, 25296721, 16225397, 10738006, 18947684, 7575432, 23532419, 26537754, 25109415 | ||
| PREPL | 20517292, 15635077, 28717662, 22493502, 7573036, 26537754 | ||
| SLC7A9 | 12915471, 15670723, 10471498, 18332091, 16609684, 15635077, 26123750, 12234930, 22480232, 11157794, 25296721, 12371955, 18752446, 28717662, 19782624, 12234283, 25964309, 12820697, 23532419, 16138908, 25109415, 25613900, 28812535, 21255007, 17539912 | ||
| CAMKMT | |||
| Cystinuria, Type A | C1857388 | SLC3A1 | 21255007 |
| Cystinuria, Type B | C1857389 | SLC7A9 | 21255007 |
| Cystinuria type B | 93613 | SLC7A9 | |
| Cystinuria type A | 93612 | SLC3A1 |