rs72552778, ABCB4

N. diseases: 5
Disease: Low phospholipid-associated cholelithiasis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Low phospholipid-associated cholelithiasis
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
0.810 GeneticVariation UNIPROT Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770). 28012258 2017
Low phospholipid-associated cholelithiasis
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
0.810 GeneticVariation UNIPROT Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations. 24723470 2014
Low phospholipid-associated cholelithiasis
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
0.810 GeneticVariation UNIPROT Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients. 23533021 2013
Low phospholipid-associated cholelithiasis
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
0.810 GeneticVariation UNIPROT Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations. 22331132 2012
Low phospholipid-associated cholelithiasis
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
0.810 GeneticVariation BEFREE One of them (c.959C>T; p.Ser320Phe) was previously implicated in LPAC and the second one (c.2858C>A; p.Ala953Asp) in PFIC3. 19840255 2010
Low phospholipid-associated cholelithiasis
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
0.810 GeneticVariation UNIPROT ABCB4 gene mutation-associated cholelithiasis in adults. 12891548 2003
Low phospholipid-associated cholelithiasis
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
0.810 GeneticVariation UNIPROT MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. 11313316 2001
Low phospholipid-associated cholelithiasis
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
0.810 CausalMutation CLINVAR