Coffin-Siris Syndrome

About the Disease
Coffin-Siris Syndrome 1, also known as coffin-siris syndrome, is related to coffin-siris syndrome 6 and coffin-siris syndrome 4. An important gene associated with Coffin-Siris Syndrome 1 is ARID1B (AT-Rich Interaction Domain 1B), and among its related pathways/superpathways are RNA Polymerase I Promoter Opening and Assembly of the pre-replicative complex. Affiliated tissues include bone, heart and brain, and related phenotypes are coarse facial features and thick eyebrow

Common Targets
CACNA1H | KANSL1 | BICRA | MEGF11 | ARID1B | SMARCA2 | PHF6 | USP20 | CCDC88C | CLEC11A | SCAND3 | SOX4 | SMARCC2 | SMARCA4 | CYFIP1 | FMO2 | G2033 | SMARCE1 | COL6A2 | ZNF469 | SMARCB1 | ARID1A | SOX11

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