Congenital neutropenia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Congenital neutropenia | C0340970 | AK2 | |
| CSF3R | 19620628, 24753537 | ||
| ELANE | 28297620 | ||
| GATA2 | 29724903 | ||
| GFI1 | |||
| RMRP | 11207361, 16832578 | ||
| WAS | 16804117 | ||
| CXCR4 | 12692554, 15536153 | ||
| TCIRG1 | 24753205 | ||
| HAX1 | |||
| VPS45 | 23599270 | ||
| LAMTOR2 | 28593997 | ||
| JAGN1 | 25129144 | ||
| G6PC3 | 19118303, 20616219, 20717171 | ||
| NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE | C4310764 | CSF3R | 26324699, 24753537, 19620628 |
| Autosomal dominant severe congenital neutropenia | 486 | TCIRG1 | |
| ELANE | |||
| GFI1 | |||
| SRP54 | |||
| Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency | 331176 | G6PC3 | |
| Autosomal recessive severe congenital neutropenia due to CSF3R deficiency | 420702 | CSF3R | |
| Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency | 420699 | CXCR2 | |
| Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency | 423384 | JAGN1 |