Constitutional mismatch repair deficiency syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Constitutional Mismatch Repair Deficiency Syndrome | C4321324, 252202 | MSH6 | 9390556, 18409202, 11809679, 9927034, 18593904, 17259933, 18030674, 16283678, 15340263, 16000562, 17557300, 10763829 |
| MLH1 | 9927034, 10763829, 14762794, 15139004, 15340263, 18593904, 22692065, 11809679, 9500552, 17440981, 11389087, 9927033 | ||
| MSH2 | 18593904, 17601929, 12549480, 9927034, 19101824, 16372347, 11809679, 10763829, 7550317, 15340263 | ||
| PMS2 | 15077197, 28297620, 9927034, 18030674, 15340263, 11809679, 16204034, 17557300, 9500552, 14574005, 10763829 |