ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Disease: Hydranencephaly and Abnormal Genitalia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846172
Disease: Hydranencephaly and Abnormal Genitalia
Hydranencephaly and Abnormal Genitalia 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 14722918 2004
CUI: C1846172
Disease: Hydranencephaly and Abnormal Genitalia
Hydranencephaly and Abnormal Genitalia 		0.600 CausalMutation disease CLINVAR
CUI: C1846172
Disease: Hydranencephaly and Abnormal Genitalia
Hydranencephaly and Abnormal Genitalia 		0.600 Biomarker disease CTD_human