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 |
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 |
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 |
Bile Acid Malabsorption, Primary
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Bile Acid Malabsorption, Primary
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
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 |
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 |
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 |
Drug abuse
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Drug habituation
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
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 |
Substance Dependence
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Substance Use Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Substance-Related Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Substance abuse problem
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Drug Dependence
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Prescription Drug Abuse
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Biliary calculi
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.
|
30504769 |
2018 |
Failure to Thrive
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Steatorrhea
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Chronic diarrhea
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Growth delay
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Variable expressivity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
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 |