SLC10A2, solute carrier family 10 member 2, 6555

N. diseases: 66; N. variants: 9
Disease: Bile Acid Malabsorption, Primary ×
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