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Entry | Name | Description | Category | Pathway | Gene |
---|---|---|---|---|---|
H01403 | Coffin-Siris syndrome | Coffin-Siris syndrome (CSS) is a rare congenital anomaly syndrome characterized by growth deficiency, severe intellectual disability, microcephaly, coarse facial features and hypoplastic nail of the fifth ... | Congenital malformation |
(CSS1) ARID1B [HSA:57492] [KO:K11653] (CSS2) ARID1A [HSA:8289] [KO:K11653] (CSS3) SMARCB1 [HSA:6598] [KO:K11648] (CSS4) SMARCA4 [HSA:6597] [KO:K11647] (CSS5) SMARCE1 [HSA:6605] [KO:K11651] (CSS6) ARID2 [HSA:196528] [KO:K11765] (CSS7) DPF2 [HSA:5977] [KO:K13196] (CSS8) SMARCC2 [HSA:6601] [KO:K11649] (CSS9) SOX11 [HSA:6664] [KO:K09268] (CSS10) SOX4 [HSA:6659] [KO:K23581] (CSS11) SMARCD1 [HSA:6602] [KO:K11650] (CSS12) BICRA [HSA:29998] [KO:K25612] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |