ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Disease: Ambiguous Genitalia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.140 GeneticVariation disease BEFREE A child with a novel de novo mutation in the aristaless domain of the aristaless-related homeobox (ARX) gene presenting with ambiguous genitalia and psychomotor delay. 25074490 2014
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.140 GeneticVariation disease BEFREE ARX mutations are associated with various forms of epilepsy, developmental delay, and ambiguous genitalia in humans. 21426321 2011
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.140 GeneticVariation disease BEFREE X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia in genotypic males is associated with mutations of the ARX gene. 16724181 2006
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.140 GeneticVariation disease BEFREE X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia in genotypic males is associated with mutations of the ARX gene. 15921228 2005
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.140 Biomarker disease HPO