ARID2, AT-rich interaction domain 2, 196528

N. diseases: 167; N. variants: 13
Disease: Coffin-Siris syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.330 GeneticVariation disease 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: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.330 GeneticVariation disease BEFREE Here we describe 7 unrelated individuals, 2 with deletions of the ARID2 region and 5 with de novo truncating mutations in the ARID2 gene.Similarities to CSS are evident. 29698805 2019
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.330 GermlineCausalMutation disease ORPHANET Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. 28124119 2017
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.330 GeneticVariation disease BEFREE Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. 28124119 2017