Cornelia De Lange Syndrome

About the Disease
Cornelia De Lange Syndrome, also known as de lange syndrome, is related to cornelia de lange syndrome 3 with or without midline brain defects and cornelia de lange syndrome 1. An important gene associated with Cornelia De Lange Syndrome is NIPBL (NIPBL Cohesin Loading Factor), and among its related pathways/superpathways are "Cell Cycle, Mitotic" and EML4 and NUDC in mitotic spindle formation. The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and heart, and related phenotypes are high palate and short neck

Common Targets
MED13L | AFF4 | CFAP57 | ARID1B | BRD4 | HDAC8 | SMARCA2 | ZMYND11 | CPLANE1 | TAF1 | KPRP | EHMT1 | SMC1A | SETD5 | RAD21 | TAF6 | SUZ12 | FREM1 | NAA10 | G2033 | NAA50 | NSMCE2 | KMT2A | NIPBL | ANKRD11 | POU3F3 | SMARCB1 | MAU2 | SMC3 | PHIP | F8 | HDAC2 | SPEN

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