Disease

Kabuki Syndrome

About the Disease
Kabuki Syndrome 1, also known as kabuki syndrome, is related to myeloma, multiple and charge syndrome. An important gene associated with Kabuki Syndrome 1 is KMT2D (Lysine Methyltransferase 2D), and among its related pathways/superpathways are Gene expression (Transcription) and RNA Polymerase I Promoter Opening. The drugs Risperidone and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye, heart and kidney, and related phenotypes are macrotia and abnormal dermatoglyphics

Common Targets
WDR5 | MED13 | ARID1B | KMT2C | LCLAT1 | MLL1/MLL Complex | EHMT1 | G5243 | A2ML1 | BICD2 | KMT2B | ZBTB24 | CHD7 | DNMT3B | SMARCA4 | SRCAP | SETD2 | KMT2A | KDM1A | BCOR | ZFP57 | KAT6B | RAP1A | KMT2D | CTCF | SMARCB1 | MAOB | RIPK3 | HCFC1 | DEGS2 | G673 | KDM6A | ACTB

疾病靶点研报
Kabuki Syndrome

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