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: 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: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0038238
Disease: Steatorrhea
Steatorrhea 		0.100 Biomarker phenotype HPO
CUI: C0401151
Disease: Chronic diarrhea
Chronic diarrhea 		0.100 Biomarker disease HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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