Disease: Low phospholipid-associated cholelithiasis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1408217402
rs1408217402
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C2609268
Disease:
Low phospholipid-associated cholelithiasis 		0.700 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
dbSNP: rs1408217402
rs1408217402
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C2609268
Disease:
Low phospholipid-associated cholelithiasis 		0.700 GeneticVariation UNIPROT Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations. 24723470 2014
dbSNP: rs1408217402
rs1408217402
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C2609268
Disease:
Low phospholipid-associated cholelithiasis 		0.700 GeneticVariation UNIPROT Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients. 23533021 2013
dbSNP: rs1408217402
rs1408217402
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C2609268
Disease:
Low phospholipid-associated cholelithiasis 		0.700 GeneticVariation UNIPROT Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations. 22331132 2012
dbSNP: rs1408217402
rs1408217402
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C2609268
Disease:
Low phospholipid-associated cholelithiasis 		0.700 GeneticVariation UNIPROT ABCB4 gene mutation-associated cholelithiasis in adults. 12891548 2003
dbSNP: rs1408217402
rs1408217402
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
CUI: C2609268
Disease:
Low phospholipid-associated cholelithiasis 		0.700 GeneticVariation UNIPROT MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis. 11313316 2001