ARID4B, AT-rich interaction domain 4B, 51742

N. diseases: 62; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.060 Biomarker disease BEFREE Maple syrup urine disease (MSUD) is an autosomal recessive aminoacidopathy secondary to an enzyme defect in the catabolic pathway of the branched-chain amino acids (BCAAs: leucine, isoleucine, and valine). 24486081 2016
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.010 Biomarker group BEFREE ASD subjects were stratified into subpopulations based on shared metabolic phenotypes associated with BCAA dysregulation. 30446206 2019
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		0.010 Biomarker disease BEFREE ASD subjects were stratified into subpopulations based on shared metabolic phenotypes associated with BCAA dysregulation. 30446206 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.010 Biomarker disease BEFREE RBP1L1, a retinoblastoma-binding protein-related gene encoding an antigenic epitope abundantly expressed in human carcinomas and normal testis. 11481388 2001
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 AlteredExpression group BEFREE RBP1L1, a retinoblastoma-binding protein-related gene encoding an antigenic epitope abundantly expressed in human carcinomas and normal testis. 11481388 2001
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 Biomarker group BEFREE RBP1L1 appears to be a molecular marker associated with a broad range of human malignancies. 11481388 2001
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 Biomarker phenotype BEFREE ARID4B physically interacts with the breast cancer metastasis suppressor BRMS1, and we detected differential binding of the Arid4b alleles to histone deacetylase complex members mSIN3A and mSDS3, suggesting that the mechanism of Arid4b action likely involves interactions with chromatin modifying complexes. 22693453 2012
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 Biomarker disease BEFREE BCAA and phenylalanine differed significantly between MS(+) and MS(-) participants (P = 0.003). 29075976 2017
CUI: C0011847
Disease: Diabetes
Diabetes 		0.030 AlteredExpression disease BEFREE BCAA levels were increased in the blood in human patients and mice with diabetes or AD. 29802157 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.030 AlteredExpression group BEFREE BCAA levels were increased in the blood in human patients and mice with diabetes or AD. 29802157 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE BCAA-enriched diet promoted the development of AD in mice as evidenced by the behavior and pathological analysis. 29802157 2018
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.060 GeneticVariation disease BEFREE A metabolic block in the oxidative decarboxylation of BCAA caused by mutations in the mitochondrial branched-chain alpha-keto acid dehydrogenase complex (BCKDC) results in Maple Syrup Urine Disease (MSUD) or branched-chain ketoaciduria. 16365091 2006
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		0.010 Biomarker phenotype BEFREE Adipocyte deletion of two PPARγ copies induced lipodystrophy, severe glucose intolerance and markedly increased serum BCAA. 30316815 2018
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 Biomarker group BEFREE Adjusting for age, body mass index, and other established CVD risk factors, total BCAAs were positively associated with CVD (per SD: HR, 1.13; 95% CI, 1.08-1.18), comparable to LDL-C (low-density lipoprotein cholesterol) with CVD (per SD: HR, 1.12; 95% CI, 1.07-1.17). 29572205 2018
CUI: C0232462
Disease: Decrease in appetite
Decrease in appetite 		0.010 AlteredExpression phenotype BEFREE After timely BCAA-free nutrition and supplementation with thiamine for the patient, the plasma levels of BCAAs reached a safe level, the abnormal range of the multiple intracranial abnormalities was significantly smaller than before, and the symptoms of drowsiness and poor appetite disappeared. 31830945 2019
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.020 Biomarker group BEFREE Allelic variation and differential expression of the mSIN3A histone deacetylase complex gene Arid4b promote mammary tumor growth and metastasis. 22693453 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.030 Biomarker phenotype BEFREE Although ARID4B is known to promote tumour metastasis in breast cancer and inhibit transformation and progression in leukaemia, the possible effect of ARID4B on primary brain tumours (PBTs) is not well characterised. 27451434 2017
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 Biomarker group BEFREE Although ARID4B is known to promote tumour metastasis in breast cancer and inhibit transformation and progression in leukaemia, the possible effect of ARID4B on primary brain tumours (PBTs) is not well characterised. 27451434 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.050 Biomarker disease BEFREE Although ARID4B is known to promote tumour metastasis in breast cancer and inhibit transformation and progression in leukaemia, the possible effect of ARID4B on primary brain tumours (PBTs) is not well characterised. 27451434 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 Biomarker disease BEFREE Although ARID4B is known to promote tumour metastasis in breast cancer and inhibit transformation and progression in leukaemia, the possible effect of ARID4B on primary brain tumours (PBTs) is not well characterised. 27451434 2017
CUI: C0023418
Disease: leukemia
leukemia 		0.010 Biomarker disease BEFREE Although ARID4B is known to promote tumour metastasis in breast cancer and inhibit transformation and progression in leukaemia, the possible effect of ARID4B on primary brain tumours (PBTs) is not well characterised. 27451434 2017
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.060 Biomarker disease BEFREE BCAAs in plasma were normal in the two domino graft recipients, and the MSUD patient showed mildly elevated but stable BCAA concentrations despite an unrestricted diet. 28580726 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.020 Biomarker phenotype BEFREE BCKDK of BCAA Catabolism Cross-talking With the MAPK Pathway Promotes Tumorigenesis of Colorectal Cancer. 28501528 2017
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE BCKDK of BCAA Catabolism Cross-talking With the MAPK Pathway Promotes Tumorigenesis of Colorectal Cancer. 28501528 2017
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 Biomarker disease BEFREE BCKDK of BCAA Catabolism Cross-talking With the MAPK Pathway Promotes Tumorigenesis of Colorectal Cancer. 28501528 2017