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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01921 |
MICPCH syndrome Syndromic X-linked mental retardation, Najm type |
... kinase (CASK) gene mutations. CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. | Congenital malformation | CASK [HSA:8573] [KO:K06103] | |
| H02371 | Intellectual developmental disorder with autism and speech delay | Intellectual developmental disorder with autism and speech delay is the autistic-spectrum-disorder. Some of them have complications in addition to autism and speech delay. Several underlying genetic causes ... | Mental and behavioural disorder |
(IDDAS) TBR1 [HSA:10716] [KO:K10174] (IDDALDS) TANC2 [HSA:26115] [KO:K26456] (IDDADF) PDZD8 [HSA:118987] [KO:K24060] (IDDLA) FOXP1 [HSA:27086] [KO:K23582] (WHSUS) POGZ [HSA:23126] [KO:K22594] |
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