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: C0751416
Disease: Pelvic Cancer
Pelvic Cancer 		0.010 GeneticVariation disease BEFREE This study investigates the strategy of salvage single-modality interstitial brachytherapy (SM-ISBT) for recurrent gynaecological pelvic cancer at two specialised ISBT centres. 31402286 2020
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.010 AlteredExpression group BEFREE PEG treatment ameliorates intestinal BA malabsorption in CF mice and restores intestinal FXR-FGF15 signaling, independent from Asbt gene expression. 30653340 2019
CUI: C1868251
Disease: Neonatal alloimmune thrombocytopenia (NAIT)
Neonatal alloimmune thrombocytopenia (NAIT) 		0.010 GeneticVariation disease BEFREE Serum samples were collected from 36 neonatal alloimmune thrombocytopenia (NAIT) patients suspected of having HPA or HLA antibodies and 8 samples from ISBT platelet workshop were tested using the Luminex assay. 31382976 2019
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.010 Biomarker disease BEFREE Treating mice with an apical sodium-dependent bile acid transporter inhibitor (ASBTi) (SC-435) resulted in marked increases in fgf15, a shift in the BA and microbiota profiles, and improved steatohepatitis in the lean model. 31442319 2019
CUI: C3853779
Disease: Neonatal Alloimmune Thrombocytopenia
Neonatal Alloimmune Thrombocytopenia 		0.010 GeneticVariation disease BEFREE Serum samples were collected from 36 neonatal alloimmune thrombocytopenia (NAIT) patients suspected of having HPA or HLA antibodies and 8 samples from ISBT platelet workshop were tested using the Luminex assay. 31382976 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 AlteredExpression disease BEFREE In addition, overexpressed slc10a2 in NSCLC cells can further suppress the proliferation and migration, and promote apoptosis under the treatment of bexarotene. 29642873 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 Biomarker disease BEFREE The aim of this phase 1 study in adult healthy volunteers (HVs) and patients with type 2 diabetes mellitus (T2DM) was to assess the safety, tolerability, pharmacokinetics and pharmacodynamics of ASBT inhibition with volixibat (SHP626; formerly LUM002). 29304731 2018
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		0.010 Biomarker disease BEFREE Preclinical studies suggest that FXR- and PPAR-agonists, inhibitors of the apical sodium-dependent bile salt transporter (ASBT-inhibitors) and the C<sub>23</sub> UDCA derivative nor-UDCA are promising agents for the treatment of primary sclerosing cholangitis (PSC). 29310470 2018
CUI: C1535964
Disease: Cholestatic pruritus
Cholestatic pruritus 		0.010 Biomarker phenotype BEFREE Pilot study with IBAT inhibitor A4250 for the treatment of cholestatic pruritus in primary biliary cholangitis. 29704003 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans. 27770636 2017
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 GeneticVariation disease BEFREE Promising LC rates were found in patients with cervical cancers treated with perineal ISBT with 3D image-based planning. 28351521 2017
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 Biomarker group BEFREE Wild-type and Asbt-deficient (Slc10a2 (-/-) ) male mice were treated with azoxymethane (AOM) alone to examine the development of aberrant crypt foci, the earliest histological marker of colon neoplasia and a combination of AOM and dextran sulfate sodium to induce colon tumor formation. 26210740 2015
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.010 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: C0586354
Disease: Esophageal dysplasia
Esophageal dysplasia 		0.010 AlteredExpression disease BEFREE Furthermore, both CDX1/CDX2 and ASBT expressions are down-regulated in high-grade esophageal dysplasia. 23687410 2013
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 Biomarker group BEFREE Current studies were designed to investigate the modulation of ASBT function and expression in streptozotocin (STZ)-induced diabetes mellitus in rats and to examine the effect of insulin on rat ASBT promoter by insulin. 20651004 2010
CUI: C0520459
Disease: Necrotizing Enterocolitis
Necrotizing Enterocolitis 		0.010 AlteredExpression disease BEFREE Apical sodium-dependent bile acid transporter upregulation is associated with necrotizing enterocolitis. 20616306 2010
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		0.010 Biomarker disease BEFREE The highest frequency of ASBT expression was in patients with nondysplastic BE (9 of 15, 60%), and a progressive loss of ASBT was observed through the stages of dysplasia.ASBT was not detected in EAC (0 of 15). 19174784 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 GeneticVariation disease BEFREE Here, we reconstructed haplotypes of the SLC10A2 gene locus and tested for association with non-syndromic familial and sporadic CRC compared to 'hyper-normal' controls who displayed no colorectal polyps on screening colonoscopy. 18644122 2008
CUI: C0021831
Disease: Intestinal Diseases
Intestinal Diseases 		0.010 Biomarker group LHGDN Bile acid transporters in health and disease. 18668439 2008
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		0.010 GeneticVariation disease BEFREE Here, we reconstructed haplotypes of the SLC10A2 gene locus and tested for association with non-syndromic familial and sporadic CRC compared to 'hyper-normal' controls who displayed no colorectal polyps on screening colonoscopy. 18644122 2008
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 GeneticVariation disease BEFREE Effects of common haplotypes of the ileal sodium dependent bile acid transporter gene on the development of sporadic and familial colorectal cancer: a case control study. 18644122 2008
CUI: C0020877
Disease: Ileitis
Ileitis 		0.010 Biomarker disease BEFREE Indomethacin-induced acute ileitis led to repression of ASBT in wild-type mice and in the transgenic rat ASBT promoter reporter, while paradoxical activation of ASBT was seen in c-fos-null mice. 16890608 2006
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.010 AlteredExpression disease BEFREE In Caco-2 cells, antisense-mediated knock-down of endogenous familial intrahepatic cholestasis-1 led to up-regulation of apical sodium-dependent bile acid transporter and down-regulation of FXR, ileal lipid-binding protein, and short heterodimer partner mRNA. 14988830 2004
CUI: C0008372
Disease: Intrahepatic Cholestasis
Intrahepatic Cholestasis 		0.010 Biomarker disease BEFREE Partial inhibition of ASBT may be useful in the treatment of hypercholesterolemia and intrahepatic cholestasis. 11396803 2001
CUI: C0206677
Disease: Adenomatous Polyps
Adenomatous Polyps 		0.010 GeneticVariation disease BEFREE This initial observation of an association between a polymorphism in the SLC10A2 gene and the risk of colorectal adenomatous polyps would, if confirmed by other studies, support the role of bile acids in the carcinogenesis of colorectal cancer. 11535543 2001