Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.160 GeneticVariation disease BEFREE We review the reported phenotypes of females with mutations in ARX and highlight the importance of screening ARX in male and female patients with ID, seizures, and in particular with complete ACC. 28150386 2017
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.160 GeneticVariation disease BEFREE To our knowledge, ARX mutation causing PMG and PVNH is unique, but the spasms and ACC are common in ARX mutations. 22585566 2012
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.160 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: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.160 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: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.160 GeneticVariation disease BEFREE We recently identified mutations of ARX in nine genotypic males with X-linked lissencephaly with abnormal genitalia (XLAG), and in several female relatives with isolated agenesis of the corpus callosum (ACC). 14722918 2004
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.160 GeneticVariation disease BEFREE Mutations in the Aristaless-related homeobox (ARX) gene are associated with a broad spectrum of disorders including X-linked lissencephaly with abnormal genitalia (XLAG) and absent corpus callosum. 15248097 2004
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
0.160 Biomarker disease HPO