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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00631 | Cornelia de Lange syndrome | ... hirsutism, and gastrointestinal abnormalities. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. | Congenital malformation |
(CDLS1) NIPBL [HSA:25836] [KO:K06672] (CDLS2) SMC1A [HSA:8243] [KO:K06636] (CDLS3) SMC3 [HSA:9126] [KO:K06669] (CDLS4) RAD21 [HSA:5885] [KO:K06670] (CDLS5) HDAC8 [HSA:55869] [KO:K11405] (CDLS6) BRD4 [HSA:23476] [KO:K11722] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |