Blau syndrome
From SNPedia
At a minimum, these SNPs are known to be related, and others may also be
| Max Magnitude | |
|---|---|
| rs104895438 | 0 |
| rs104895460 | 0 |
| rs104895461 | 0 |
| rs104895462 | 0 |
| rs104895472 | 0 |
| rs104895476 | 0 |
| rs104895477 | 0 |
| rs2066842 | 0 |
| rs2066843 | 2 |
| rs2066844 | 3.1 |
| rs2066845 | 4 |
| rs2066847 | 4 |
| rs2067085 | 0 |
| rs3135499 | 0 |
| rs3135500 | 0 |
| rs5743277 | 0 |
| rs5743289 | 1 |
Blau syndrome is an inflammatory disorder that primarily affects the skin, joints, and eyes. Signs and symptoms begin in childhood, usually before age 4. Blau syndrome results from mutations in the NOD2 gene and is inherited in a dominant manner.GHR
