ARID2, AT-rich interaction domain 2, 196528

N. diseases: 167; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 AlteredExpression disease BEFREE Furthermore, an obvious negative correlation between miR-376c-3p and ARID2 mRNA expression in HCC tissues was confirmed. 30519319 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 GeneticVariation disease BEFREE Recent genomic studies have identified frequent mutations of ARID2, a component of the SWItch/Sucrose Non-Fermentable (SWI/SNF) complex, in hepatocellular carcinoma, but it is not still understood how ARID2 exhibits tumor suppressor activities. 28238438 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 GeneticVariation disease BEFREE While ICC and HCC share recurrently mutated genes, including TP53, ARID1A, and ARID2, mitotic checkpoint anomalies distinguish the C1 subtype with key drivers PLK1 and ECT2, whereas the C2 subtype is linked to obesity, T cell infiltration, and bile acid metabolism. 28648284 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 Biomarker disease BEFREE Functionally, ARID2 abrogated HBx-enhanced migration and proliferation of hepatoma cells, whereas depletion of ATOH1 enhanced tumorigenecity of HCC cells. 28498550 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 AlteredExpression disease BEFREE Notably, alterations of ARID2 expression abrogated the effects of miR‑155 on HCC cell proliferation, cell cycle and apoptosis. 27035278 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 Biomarker disease BEFREE These findings highlight the potential role of ARID2 as a tumor growth suppressor in HCC. 27351279 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 AlteredExpression disease BEFREE In vitro, miR-208-3p down-regulation and ARID2 over-expression elicited similar inhibitory effects on HCC cell proliferation and invasion. 26169693 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 GeneticVariation disease BEFREE AT-rich interactive domain 2 (ARID2), catenin (cadherin-associated protein), beta 1, 88kDa (β-catenin), tumor protein 53 (p53), and phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha (p110α) mutations are implicated in hepatocellular carcinoma (HCC); and previous work has contributed to thorough molecular characterization of these events. 25701229 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 Biomarker disease BEFREE Furthermore, by taking account of genomic mutations causing transcriptional aberrations, we could improve the sensitivity of deleterious mutation detection in known cancer driver genes (TP53, AXIN1, ARID2, RPS6KA3), and identified recurrent disruptions in putative cancer driver genes such as HNF4A, CPS1, TSC1 and THRAP3 in HCCs. 25526364 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 GeneticVariation disease BEFREE High-throughput short-read sequencing of exomes and whole cancer genomes in multiple human hepatocellular carcinoma (HCC) cohorts confirmed previously identified frequently mutated somatic genes, such as TP53, CTNNB1 and AXIN1, and identified several novel genes with moderate mutation frequencies, including ARID1A, ARID2, MLL, MLL2, MLL3, MLL4, IRF2, ATM, CDKN2A, FGF19, PIK3CA, RPS6KA3, JAK1, KEAP1, NFE2L2, C16orf62, LEPR, RAC2, and IL6ST. 24379610 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 Biomarker disease CTD_human Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. 22634756 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 GeneticVariation disease BEFREE Notably, 18.2% of individuals with HCV-associated HCC in the United States and Europe harbored ARID2 inactivation mutations, suggesting that ARID2 is a tumor suppressor gene that is relatively commonly mutated in this tumor subtype. 21822264 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 Biomarker disease BEFREE Here, we summarize the current knowledge about the relevance of ARID2 in HCC and the implication in future patient care. 22095441 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 Biomarker disease CTD_human Notably, 18.2% of individuals with HCV-associated HCC in the United States and Europe harbored ARID2 inactivation mutations, suggesting that ARID2 is a tumor suppressor gene that is relatively commonly mutated in this tumor subtype. 21822264 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.600 CausalMutation disease CGI
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
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.300 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
0.300 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
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