Search Result |
Top |
| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02224 | Grange syndrome | ... syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. It has been reported that mutations in YY1AP1 lead to Grange syndrome. | Congenital malformation | YY1AP1 [HSA:55249] [KO:K23803] | |
| H02490 | Gabriele-de Vries syndrome | Gabriele-de Vries syndrome (GADEVS) is an intellectual disability syndrome caused by mutations in YY1. YY1 encodes a multi-functional transcription factor involved in many regulatory processes. | Mental and behavioural disorder | YY1 [HSA:7528] [KO:K09201] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |