ARID2, AT-rich interaction domain 2, 196528

N. diseases: 167; N. variants: 13
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group BEFREE Previously reported ARID2 mutations manifested clinically with a CSS-like phenotype including intellectual disability, coarsened facial features, fifth toenail hypoplasia, and other recognizable dysmorphisms. 30838730 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group BEFREE Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients. 29698805 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 Biomarker group BEFREE The phenotype confirmed the major features of the recently described ARID2-related intellectual disability syndrome. 28884947 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group BEFREE In 2015, mutations in the ARID2 gene were associated with intellectual disability. 28124119 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group BEFREE Here we elaborate on identified intragenic CNVs involving epigenetic regulatory genes; specifically discussing those in three genes previously unreported in ID etiology-ARID2, KDM3A, and ARID4B. 27748065 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 GeneticVariation group BEFREE This is the first report of mutations in ARID2 associated with developmental delay and ID. 26238514 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.160 Biomarker group HPO