ARX, aristaless related homeobox, 170302

N. diseases: 249; N. variants: 44
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796124
Disease: Proud Syndrome
Proud Syndrome
0.700 GermlineCausalMutation disease ORPHANET Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 14722918 2004
CUI: C0796124
Disease: Proud Syndrome
Proud Syndrome
0.700 GeneticVariation disease UNIPROT Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. 14722918 2004
CUI: C0796124
Disease: Proud Syndrome
Proud Syndrome
0.700 Biomarker disease GENOMICS_ENGLAND Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans. 12379852 2002
CUI: C0796124
Disease: Proud Syndrome
Proud Syndrome
0.700 CausalMutation disease CLINVAR
CUI: C0796124
Disease: Proud Syndrome
Proud Syndrome
0.700 Biomarker disease CTD_human