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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02746 | Alfadhel syndrome | ... dysmorphic feature, intellectual disability, and speech delay. It has been reported that mutations in RAP1GDS1 cause this syndrome. RAP1GDS1 is a guanine nucleotide exchange factor (GEF) that regulates small ... | Congenital malformation | RAP1GDS1 [HSA:5910] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |