Disease: Rotor Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220991
Disease: Rotor Syndrome
Rotor Syndrome 		0.640 Biomarker disease BEFREE In patients with Rotor syndrome, bilirubin (re)uptake is impaired due to the deficiency of two basolateral/sinusoidal hepatocellular membrane proteins, organic anion-transporting polypeptide 1B1 (OATP1B1) and OATP1B3. 25315738 2015
CUI: C0220991
Disease: Rotor Syndrome
Rotor Syndrome 		0.640 Biomarker disease BEFREE Here, we examined SLCO1B1 and SLCO1B3 genes in six Japanese diagnosed with Rotor syndrome on the basis of laboratory data and laparoscopy. 25546334 2015
CUI: C0220991
Disease: Rotor Syndrome
Rotor Syndrome 		0.640 Biomarker disease GENOMICS_ENGLAND Here, we analyzed 8 Rotor-syndrome families and found that Rotor syndrome was linked to mutations predicted to cause complete and simultaneous deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3. 22232210 2012
CUI: C0220991
Disease: Rotor Syndrome
Rotor Syndrome 		0.640 Biomarker disease BEFREE Loss of OATP1B3 function causes Rotor syndrome: implications for potential use of inhibitors in cancer. 22954695 2012
CUI: C0220991
Disease: Rotor Syndrome
Rotor Syndrome 		0.640 GeneticVariation disease BEFREE Here, we analyzed 8 Rotor-syndrome families and found that Rotor syndrome was linked to mutations predicted to cause complete and simultaneous deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3. 22232210 2012
CUI: C0220991
Disease: Rotor Syndrome
Rotor Syndrome 		0.640 GermlineCausalMutation disease ORPHANET Here, we analyzed 8 Rotor-syndrome families and found that Rotor syndrome was linked to mutations predicted to cause complete and simultaneous deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3. 22232210 2012
CUI: C0220991
Disease: Rotor Syndrome
Rotor Syndrome 		0.640 Biomarker disease CTD_human