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: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.030 Biomarker disease BEFREE Volixibat was generally well tolerated.Increased faecal BA excretion and serum C4 levels support the mechanistic rationale for exploring ASBT inhibition in NASH. 29304731 2018
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.030 AlteredExpression phenotype BEFREE In addition, abnormal ASBT expression and function might lead to some diseases associated with disorders in the enterohepatic circulation of BAs and cholesterol homeostasis, such as diarrhoea and gallstones. 28336180 2017
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.030 Biomarker disease BEFREE However, decreasing cholesterol or BAs by partly inhibiting ASBT-mediated transport might be used for treatments of hypercholesterolemia, cholestasis and diabetes. 28336180 2017
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		0.030 Biomarker disease BEFREE Activation or modulation of bile acid receptors, such as the farnesoid X receptor and TGR5, and transporters, such as the ileal apical sodium-dependent bile acid transporter, appear to affect both insulin sensitivity and NAFLD/NASH pathogenesis at multiple levels, and these approaches hold promise as novel therapies. 27358174 2017
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.030 Biomarker disease BEFREE Activation or modulation of bile acid receptors, such as the farnesoid X receptor and TGR5, and transporters, such as the ileal apical sodium-dependent bile acid transporter, appear to affect both insulin sensitivity and NAFLD/NASH pathogenesis at multiple levels, and these approaches hold promise as novel therapies. 27358174 2017
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.030 Biomarker phenotype BEFREE Diarrhea in PFIC1/BRIC1 patients has a secretory origin to which SLC10A2 deficiency may contribute. 25239307 2014
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.030 AlteredExpression disease BEFREE The alteration of the above-mentioned factors calls for attention: what is the relationship between CDXs and ASBT aberrant expression in BE? 23687410 2013
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.030 AlteredExpression disease BEFREE Correlation with ASBT expression was found for CDX1, CDX2, and HNF-1α in BE biopsies. 22016432 2012
CUI: C0011991
Disease: Diarrhea
Diarrhea 		0.030 AlteredExpression phenotype BEFREE A decrease in ASBT function and expression has been implicated in diarrhea associated with intestinal inflammation. 22403793 2012
CUI: C0004763
Disease: Barrett Esophagus
Barrett Esophagus 		0.030 AlteredExpression disease BEFREE In addition, RT-PCR studies showed increased expression of mRNA coding for ASBT (6.1x), IBABP (9.1x), and MRP3 (2.4x) in BE (N=13) compared with normal squamous epithelium (N=15). 19174784 2009
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.030 Biomarker disease BEFREE Methyl 1-(3,4-dimethoxyphenyl)-3-(3-ethylvaleryl)-4-hydroxy-6,7,8-trimethoxy-2-naphthoate (S-8921) is a novel inhibitor of the ileal apical sodium-dependent bile acid transporter (ASBT/SLC10A2) developed for the treatment of hypercholesterolemia. 17470645 2007
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.030 Biomarker disease BEFREE Partial inhibition of ASBT may be useful in the treatment of hypercholesterolemia and intrahepatic cholestasis. 11396803 2001
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.040 Biomarker disease BEFREE Elevated mRNA expression of liver IL-6, IL-17A, IL-17F, TGF-β1, α-SMA, TGR5, NTCP, OATP1a1, and ileum ASBT and decreased liver IL-10, FXR, CAR, VDR, BSEP, MRP2, MRP3, MRP4 was also observed in ANIT-induced cholestasis but were attenuated or normalized by YCHT. 28646179 2017
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.040 Biomarker disease BEFREE In this context, therapeutic approaches including new hydrophilic BA such as the conjugation-resistant nor- ursodeoxycholic acid, nuclear receptors (FXR, PPAR-alpha) agonists, FGF19 analogues, inhibitors of the apical sodium-dependent bile acid transporter [ASBT] and modulators of the inflammatory cascade triggered by BAs are being studied as novel treatments of cholestasis. 29080340 2017
CUI: C2747802
Disease: Bile acid malabsorption
Bile acid malabsorption 		0.040 AlteredExpression disease BEFREE Irinotecan-induced bile acid malabsorption is associated with down-regulation of ileal Asbt (Slc10a2) in mice. 28288854 2017
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.040 AlteredExpression disease BEFREE Duodenal ASBT expression in control subjects (171.8 (20.3)) was found to be approximately fourfold higher compared with patients with obstructive cholestasis (37.9 (6.5); p<0.0001). 16150853 2006
CUI: C2747802
Disease: Bile acid malabsorption
Bile acid malabsorption 		0.040 GeneticVariation disease BEFREE No ASBT mutations were identified and the ASBT gene did not segregate with the bile acid malabsorption phenotype. 17171805 2006
CUI: C0008370
Disease: Cholestasis
Cholestasis 		0.040 AlteredExpression disease BEFREE Marked hypercholanemia and cholestasis are predicted to develop, presumably because of both enhanced ileal uptake of bile salts via up-regulation of the apical sodium-dependent bile acid transporter and diminished canalicular secretion of bile salts secondary to down-regulation of the bile salt excretory pump. 14988830 2004
CUI: C2747802
Disease: Bile acid malabsorption
Bile acid malabsorption 		0.040 GeneticVariation disease BEFREE ASBT gene polymorphisms were detected in 5 of the 13 adult IBAM patients. 11589382 2001
CUI: C2747802
Disease: Bile acid malabsorption
Bile acid malabsorption 		0.040 GeneticVariation disease BEFREE Inherited mutation of ASBT leads to congenital diarrhea secondary to bile acid malabsorption. 11396803 2001
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.050 GeneticVariation disease BEFREE Five of the gallstone associations are protein-altering variants, and three (HNF4A p.Thr139Ile, SERPINA1 p.Glu366Lys, and SLC10A2 p.Pro290Ser) conferred per-allele odds ratios for gallstone disease of 1.30-1.36. 30325047 2019
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.050 AlteredExpression disease BEFREE In addition, abnormal ASBT expression and function might lead to some diseases associated with disorders in the enterohepatic circulation of BAs and cholesterol homeostasis, such as diarrhoea and gallstones. 28336180 2017
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.050 GeneticVariation disease BEFREE Recent genome-wide association and candidate gene studies have identified common polymorphisms in enterohepatic transporters (ABCG5/8, SLC10A2) and the Gilbert syndrome UGT1A1 variant as genetic determinants of gallstone formation. 23340007 2013
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.050 GeneticVariation disease BEFREE Further analyses in larger cohorts are required to finally assess the role of genetic variants in SLC10A2 in human gallstone development and lipid metabolism. 22093174 2011
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis 		0.050 GeneticVariation disease BEFREE In this study the SLC10A2 gene was investigated to identify novel genetic variants and their association with gallstone formation. 19823678 2009