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: 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: 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: 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
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: 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: 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 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: 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: 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: 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: C2750087
Disease: Bile Acid Malabsorption, Primary
Bile Acid Malabsorption, Primary 		0.710 Biomarker disease GENOMICS_ENGLAND Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). 9109432 1997
CUI: C2750087
Disease: Bile Acid Malabsorption, Primary
Bile Acid Malabsorption, Primary 		0.710 GeneticVariation disease UNIPROT Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2). 9109432 1997
CUI: C2750087
Disease: Bile Acid Malabsorption, Primary
Bile Acid Malabsorption, Primary 		0.710 GeneticVariation disease BEFREE In this study, we cloned the human ileal Na+/bile acid cotransporter gene (SLC10A2) and employed single-stranded conformation polymorphism analysis to screen for PBAM-associated mutations. 9109432 1997
CUI: C2750087
Disease: Bile Acid Malabsorption, Primary
Bile Acid Malabsorption, Primary 		0.710 CausalMutation disease CLINVAR
CUI: C2750087
Disease: Bile Acid Malabsorption, Primary
Bile Acid Malabsorption, Primary 		0.710 Biomarker disease CTD_human
CUI: C0242216
Disease: Biliary calculi
Biliary calculi 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association meta-analysis yields 20 loci associated with gallstone disease. 30504769 2018
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: 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 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 GeneticVariation disease BEFREE In this study the SLC10A2 gene was investigated to identify novel genetic variants and their association with gallstone formation. 19823678 2009
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: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.070 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: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.070 GeneticVariation disease BEFREE In this study the SLC10A2 gene was investigated to identify novel genetic variants and their association with gallstone formation. 19823678 2009