ANKRD11, ankyrin repeat domain 11, 29123

N. diseases: 177; N. variants: 66
Disease: Kabuki make-up syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		0.010 GeneticVariation disease BEFREE De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome. 24838796 2014