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 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: C0009241
Disease: Cognition Disorders
Cognition Disorders
0.300 Biomarker group CTD_human Diabetic cognitive dysfunction is associated with increased bile acids in liver and activation of bile acid signaling in intestine. 29382564 2018
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus
0.300 Biomarker group CTD_human Diabetic cognitive dysfunction is associated with increased bile acids in liver and activation of bile acid signaling in intestine. 29382564 2018
CUI: C0027765
Disease: nervous system disorder
nervous system disorder
0.300 Biomarker group CTD_human Genetic factors underlying the risk of thalidomide-related neuropathy in patients with multiple myeloma. 21245421 2011
CUI: C0013146
Disease: Drug abuse
Drug abuse
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation
0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
Organic Mental Disorders, Substance-Induced
0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038580
Disease: Substance Dependence
Substance Dependence
0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0236969
Disease: Substance-Related Disorders
Substance-Related Disorders
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0740858
Disease: Substance abuse problem
Substance abuse problem
0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C1510472
Disease: Drug Dependence
Drug Dependence
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C4316881
Disease: Prescription Drug Abuse
Prescription Drug Abuse
0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
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: 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: 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