KDM6A, lysine demethylase 6A, 7403

N. diseases: 238; N. variants: 22
Disease: Congenital anomaly of face ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.020 GeneticVariation group BEFREE We now establish Kabuki syndrome as a neurocristopathy, whereby the majority of clinical features are modeled in mice carrying neural crest (NC) deletion of UTX, including craniofacial dysmorphism, cardiac defects, and postnatal growth retardation. 29073101 2017
CUI: C0266617
Disease: Congenital anomaly of face
Congenital anomaly of face 		0.020 GeneticVariation group BEFREE Facial dysmorphism with KDM6A mutations is variable and diagnosis on facial gestalt alone may be difficult in some patients. 24527667 2015