ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Disease: Pachygyria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.300 Biomarker disease MGD Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. 19605412 2009
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.300 Biomarker disease MGD Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. 12379852 2002
CUI: C0266483
Disease: Pachygyria
Pachygyria 		0.300 Biomarker disease HPO