SLC10A2, solute carrier family 10 member 2, 6555

N. diseases: 66; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239182
Disease: Watery diarrhoea
Watery diarrhoea 		0.010 GeneticVariation phenotype BEFREE The aim of this study was to determine whether mutations in the ASBT gene (SLC10A2) predispose to the development of adult-onset idiopathic bile acid malabsorption and chronic watery diarrhea. 11589382 2001
CUI: C0014761
Disease: Erythroblastosis, Fetal
Erythroblastosis, Fetal 		0.010 Biomarker disease BEFREE Investigation of a mild case of hemolytic disease of the newborn has led to recognition of a 'new' low-incidence red cell antigen, WARR (ISBT No.700.55). 7625077 1995
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		0.020 Biomarker disease BEFREE Interruption of bile acid recirculation through inhibition of the apical sodium-dependent bile acid transporter (ASBT) is a promising strategy to alleviate hepatic cholesterol accumulation in non-alcoholic steatohepatitis (NASH), and improve the metabolic aspects of the disease. 31233523 2019
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.020 Biomarker disease BEFREE Our aim was to assess tolerability and effect on pruritus of the selective IBAT inhibitor A4250 in patients with primary biliary cholangitis (PBC). 29704003 2018
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.020 AlteredExpression phenotype BEFREE And bioinformatics studies discovered that the expression of slc10a2 was increased in high-grade hypertriglyceridemia patients. 29642873 2018
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis 		0.020 Biomarker disease BEFREE Volixibat is a potent inhibitor of the apical sodium-dependent bile acid transporter in development for the treatment of nonalcoholic steatohepatitis. 28702877 2018
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.020 Biomarker disease BEFREE Symptom management of PBC is challenging and ASBT inhibitors and rituximab are being evaluated for pruritus and fatigue, respectively. 28468009 2017
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.020 Biomarker disease BEFREE Slc10a2-null mice uncover colon cancer-promoting actions of endogenous fecal bile acids. 26210740 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.020 Biomarker disease BEFREE Slc10a2-null mice uncover colon cancer-promoting actions of endogenous fecal bile acids. 26210740 2015
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		0.020 Biomarker disease BEFREE Diarrhea in PFIC1/BRIC1 patients has a secretory origin to which SLC10A2 deficiency may contribute. 25239307 2014
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
Necrotizing enterocolitis in fetus OR newborn 		0.020 AlteredExpression disease BEFREE Apical sodium-dependent bile acid transporter upregulation is associated with necrotizing enterocolitis. 20616306 2010
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.020 Biomarker disease BEFREE Therefore, drugs that inhibit ASBT have the potential to increase the risk of colon cancer. 19673539 2009
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.020 Biomarker disease BEFREE Therefore, drugs that inhibit ASBT have the potential to increase the risk of colon cancer. 19673539 2009
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.020 GeneticVariation disease BEFREE Recently, an association of colorectal adenoma with two variants (c.507C>T;p.L169L and c.511G>T;p.A171S) of the ileal sodium dependent bile acid transporter gene (SLC10A2) has been reported. 18644122 2008
CUI: C4082937
Disease: Necrotizing enterocolitis in fetus OR newborn
Necrotizing enterocolitis in fetus OR newborn 		0.020 AlteredExpression disease BEFREE The apical sodium-dependent bile acid transporter was up-regulated at the site of injury in animals with NEC and decreased after EGF treatment; however, the ileal bile acid binding protein was up-regulated only in the NEC and EGF group. 16472592 2006
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.020 AlteredExpression disease BEFREE ASBT expression in ileal biopsies from patients with Crohn's disease and from healthy subjects was quantified by western blot. 14684580 2004
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		0.020 AlteredExpression disease BEFREE Increased ileal apical sodium-dependent bile acid transporter messenger RNA (mRNA) expression was detected in 3 patients with progressive familial intrahepatic cholestasis type 1. 14988830 2004
CUI: C0020480
Disease: Hyperlipoproteinemia Type IV
Hyperlipoproteinemia Type IV 		0.020 GeneticVariation disease BEFREE These findings indicate that the decreased intestinal bile acid absorption in FHTG patients is not commonly associated with inherited defects in SLC10A2. 11742882 2001
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		0.020 GeneticVariation disease BEFREE In a case-control study, we investigated the association between two sequence variations in SLC10A2, the gene encoding ISBT, and colorectal adenomas, a precursor lesion of colorectal cancer. 11535543 2001
CUI: C0020480
Disease: Hyperlipoproteinemia Type IV
Hyperlipoproteinemia Type IV 		0.020 AlteredExpression disease BEFREE Commensurate with these mRNA levels, the mean ASBT protein level in the control group was 126.2 +/- 22.6 versus 58.8 +/- 13.8 in hypertriglyceridemics (P = 0.02) and 61.8 +/- 15.2 in the FHT patients (P = 0.05). 10974045 2000
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.020 AlteredExpression phenotype BEFREE We conclude that impaired absorption of bile acid in type IV hypertriglyceridemia results from diminished expression of the ASBT gene in terminal ileum. 10974045 2000
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.020 GeneticVariation disease BEFREE In the course of cloning and characterizing the human ileal Na+/bile acid cotransporter cDNA, a dysfunctional isoform was identified in a patient diagnosed with Crohn's disease. 7592981 1995
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.030 Biomarker disease BEFREE The manipulation of bile acid (BA) homeostasis by blocking the ileal apical Na<sup>+</sup>-dependent bile salt transporter (ASBT/SLC10A2) may have therapeutic effects in nonalcoholic fatty liver disease. 30573812 2019
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.030 Biomarker disease BEFREE Interruption of bile acid recirculation through inhibition of the apical sodium-dependent bile acid transporter (ASBT) is a promising strategy to alleviate hepatic cholesterol accumulation in non-alcoholic steatohepatitis (NASH), and improve the metabolic aspects of the disease. 31233523 2019
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.030 AlteredExpression disease BEFREE Our findings demonstrated that the therapeutic effects of 50% ME among NAFLD rats, were associated with a significant increase in serum adiponectin, reduction in the serum levels of RBP4, vaspin, progranulin, TNF-α, IL-6, and significant downregulation of the hepatic gene expression of PPARγ, SLC10A2, and Collα1.Concomitantly, 50% ME of <i>P. niruri</i> has exhibited a potent antiangiogenic activity on ring assay, cell migration, vascular endothelial growth factor (VEGF), and tube formation, without any cytotoxic effect. 30096951 2018