Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.800 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
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.800 GeneticVariation UNIPROT Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations. 24723470

2014
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.800 GeneticVariation UNIPROT The low-phospholipid-associated cholelithiasis syndrome (LPAC; OMIM 171060) is a peculiar form of intrahepatic cholelithiasis occurring in young adults, associated with ABCB4/MDR3 gene sequence variations. 23533021

2013
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.800 GeneticVariation UNIPROT Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations. 22331132

2012
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.800 GeneticVariation UNIPROT ABCB4 gene mutation-associated cholelithiasis in adults. 12891548

2003
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.800 GeneticVariation UNIPROT MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. 11313316

2001