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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]
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