ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		0.020 GeneticVariation disease BEFREE We describe two new familial severe infantile spasm syndromes (ISSs) unrelated to Aristaless-related homeobox (ARX) gene mutation. 19232548 2009
CUI: C1845118
Disease: SHORT STATURE, IDIOPATHIC, X-LINKED
SHORT STATURE, IDIOPATHIC, X-LINKED 		0.020 GeneticVariation disease BEFREE To investigate the role of ARX, we performed mutation analysis in 115 boys with cryptogenic ISS.This included two pairs of brothers. 17664401 2007