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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00894 |
FG syndrome Opitz-Kaveggia syndrome |
... chromosome. A recurrent missense mutation in the MED12 gene has been identified as the cause for the subset of FGS cases. Filamin A gene (FLNA) and CASK gene mutations could be another causes of FG syndrome. | Congenital malformation |
(FGS1) MED12 [HSA:9968] [KO:K15162] (FGS2) FLNA [HSA:2316] [KO:K04437] (FGS4) CASK [HSA:8573] [KO:K06103] |
|
| H01921 |
MICPCH syndrome Syndromic X-linked mental retardation, Najm type |
... hypoplasia. MICPCH syndrome is caused by inactivating calcium/calmodulin-dependent serine protein kinase (CASK) gene mutations. CASK is a multi-domain scaffolding protein that interacts with the transcription ... | Congenital malformation | CASK [HSA:8573] [KO:K06103] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |