Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02639 | Atelis syndrome | ... chromosomes with mosaic variegated hyperploidy. It has been reported that pathogenic variants in SLF2 and SMC5 cause this disease. They are components of the RAD18-SLF1/2-SMC5/6 genome stability pathway. | Congenital malformation |
(ATELS1) SLF2 [HSA:55719] [KO:K26127] (ATELS2) SMC5 [HSA:23137] [KO:K22803] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |