Kbg syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| KBG syndrome | 2332, C0220687 | ANKRD11 | Causal Pathogenic evidence from ClinVar | 17986521, 21782149, 23184435, 25413698, 25424714, 25464108, 25543316, 25556659, 26633545, 27605097, 27667800, 27824329, 27900361, 28250421, 28449295, 30088855 | ClinVar |
| KAT6B | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |