ARID1B, AT-rich interaction domain 1B, 57492

N. diseases: 270; N. variants: 90
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 GeneticVariation group BEFREE ARID1B gene mutations have been associated with two hereditary syndromic conditions, namely Coffin-Siris (CSS, MIM#135900) and Nicolaides-Baraitser syndromes (NCBRS, MIM#601358), characterized by neurodevelopment delay, craniofacial dysmorphisms and skeletal anomalies. 31421289 2020
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.010 GeneticVariation disease BEFREE The present study was a subanalysis of the BRIGHT-D study that focused on the effects of bisoprolol vs carvedilol on inflammation and oxidative stress in CHF patients. 31444140 2020
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia
0.010 GeneticVariation disease BEFREE Use of Gla-300 resulted in similar glycaemic control as IDeg-100 during the initial 12-week titration period of the BRIGHT study, when less anytime (24 h) hypoglycaemia with Gla-300 vs IDeg-100 has been reported. 31646724 2020
Subcutaneous panniculitis-like T-cell lymphoma
0.010 GeneticVariation disease BEFREE Variants of interest identified include 1 missense mutation in ARID1B in 1 case of SPTCL. 31702703 2020
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system
0.010 GeneticVariation disease BEFREE ARID1B gene mutations have been associated with two hereditary syndromic conditions, namely Coffin-Siris (CSS, MIM#135900) and Nicolaides-Baraitser syndromes (NCBRS, MIM#601358), characterized by neurodevelopment delay, craniofacial dysmorphisms and skeletal anomalies. 31421289 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation disease BEFREE These findings open up perspectives for targeting ARID1B in combination with radiotherapy to improve outcomes of patients with ARID1A-mutant CRC. 31796878 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.010 GeneticVariation disease BEFREE Relative to all laboratory-diagnosed TB, the diagnostic yields of sputum GeneXpert (1 sample per subject) and OSA (2 samples per subject) were identical at 49/59 (83.1%) each.The specificity of the OSA was 91.5%. 30541931 2019
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis
0.010 GeneticVariation disease BEFREE A young woman with NDD due to a de novo mutation in ARID1B now presented with a large renal (> 19 cm in diameter) and multiple hepatic angiomyolipomas (AMLs) but no other signs of tuberous sclerosis complex. 31077186 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 Biomarker disease BEFREE Interactions of cg14146378-hsa-mir-205-ARID1B and cg15375596-has-miR-1275-IGF1R may be used as the prognosis indicators in lung adenocarcinoma. 30868896 2019
CUI: C0206633
Disease: Angiomyolipoma
Angiomyolipoma
0.010 GeneticVariation disease BEFREE A young woman with NDD due to a de novo mutation in ARID1B now presented with a large renal (> 19 cm in diameter) and multiple hepatic angiomyolipomas (AMLs) but no other signs of tuberous sclerosis complex. 31077186 2019
Congenital malformation of corpus callosum
0.010 GeneticVariation disease BEFREE Here, we show that corpus callosum anomalies caused in ARID1B mutations may be predictive of the visuospatial and motor phenotype in Coffin-Siris syndrome. 30933046 2019
CUI: C0520679
Disease: Sleep Apnea, Obstructive
Sleep Apnea, Obstructive
0.010 Biomarker disease BEFREE The stage of OSA severity was set according to the following criteria of the apnea-hypopnea index (AHI): AHI < 5/h - no disease (OSA-0; n = 26), AHI 5-15/h - mild disease (OSA-1; n = 26), AHI 16-30/h - moderate disease (OSA-2: n = 27), and AHI > 30/h obstructive episodes per hour - severe disease (OSA-3; n = 27). 31559568 2019
Secondary malignant neoplasm of lymph node
0.010 AlteredExpression disease BEFREE ARID1B expression was associated with lymph node metastasis status, histological grade and p53 expression. 30867762 2019
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
0.010 AlteredExpression disease BEFREE The results of the present study indicate that significant association exists between the nuclear expression of ARID1B and adverse prognosis in TNBC. 30867762 2019
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation disease BEFREE Targeting ARID1A-mutant colorectal cancer: depletion of ARID1B increases radiosensitivity and modulates DNA damage response. 31796878 2019
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.010 AlteredExpression disease BEFREE The results of the present study indicate that significant association exists between the nuclear expression of ARID1B and adverse prognosis in TNBC. 30867762 2019
CUI: C0002793
Disease: Anaplasia
Anaplasia
0.010 AlteredExpression disease BEFREE We recently identified 3 mutually exclusive mechanisms of switch/sucrose nonfermentable (SWI/SNF) complex inactivation (BRG1 inactivation, INI1 inactivation or ARID1A/ARID1B co-inactivation) that are associated with histologic dedifferentiation in the majority of dedifferentiated endometrial carcinoma. 28863077 2018
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
0.010 GeneticVariation disease BEFREE Ten of the remaining 17 undifferentiated carcinomas showed the following alterations: 5 tumors (15%) showed loss of ARID1A only with intact ARID1B, BRG1, and INI1 expression, 4 tumors (12%) showed mutated patterns of p53 staining with intact SWI/SNF protein expression, and 1 tumor (3%) harbored a POLE exonuclease domain mutation (P286R). 28863077 2018
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
0.010 AlteredExpression disease BEFREE We recently identified 3 mutually exclusive mechanisms of switch/sucrose nonfermentable (SWI/SNF) complex inactivation (BRG1 inactivation, INI1 inactivation or ARID1A/ARID1B co-inactivation) that are associated with histologic dedifferentiation in the majority of dedifferentiated endometrial carcinoma. 28863077 2018
Secondary malignant neoplasm of liver
0.010 GeneticVariation disease BEFREE Epigenetic regulators including KMT2C/MLL3 and ARID1B, which are mutated in >50% of hepatocellular carcinomas, were also mutated in liver metastases. 28892047 2018
CUI: C3544205
Disease: Ovarian clear cell carcinoma
Ovarian clear cell carcinoma
0.010 Biomarker disease BEFREE ARID1B as a Potential Therapeutic Target for ARID1A-Mutant Ovarian Clear Cell Carcinoma. 29890703 2018
CUI: C0001080
Disease: Achondroplasia
Achondroplasia
0.010 Biomarker disease BEFREE Six patients with achondroplasia underwent midface advancement for treatment of OSA (2 LF2 + LF1/BSSO, 2 LF2, 2 LF3). 29108917 2017
Malignant neoplasm of urinary bladder
0.010 AlteredExpression disease BEFREE The present study aimed to determine the association between ARID1B expression and outcomes, as well as the benefit from adjuvant chemotherapy in patients with bladder cancer. 29151933 2017
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
0.010 AlteredExpression disease BEFREE The present study aimed to determine the association between ARID1B expression and outcomes, as well as the benefit from adjuvant chemotherapy in patients with bladder cancer. 29151933 2017
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
0.010 GeneticVariation group BEFREE Further studies are needed to determine the detailed molecular and cellular mechanisms by which constitutional haploinsufficiency of ARID1B causes syndromic and non-syndromic developmental disabilities. 28691782 2017