ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Disease: Congenital anomaly of brain ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.030 GeneticVariation group BEFREE Mutations in ARX give rise to intellectual disability (ID), epilepsy and brain malformation syndromes. 27798109 2016
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.030 GeneticVariation group BEFREE The c.429_452dup24 of the ARX gene is a rare genetic anomaly, leading to X-Linked Intellectual Disability without brain malformation. 24528893 2014
CUI: C0266449
Disease: Congenital anomaly of brain
Congenital anomaly of brain 		0.030 GeneticVariation group BEFREE Brain magnetic resonance imaging (MRI) of all patients showed no brain malformations in contrast to the patients with a premature termination mutation in other exons of ARX. 20384723 2010