Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease BEFREE A second ABC transporter, the hepatic phosphatidylcholine translocase ABCB4, increases the risk for gallstone disease, gallbladder cancer and chronic liver diseases in general, whereas the common PNPLA3 risk variant p.I148M decreases gallstone risk. 30608254 2019
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease BEFREE Low phospholipid-associated cholelithiasis (LPAC) is characterized by the association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. 31181191 2019
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease BEFREE A smaller group of patients might develop gallstones primarily due low phosphatidylcholine concentrations in bile as a result of loss-of-function mutations of the ABCB4 transporter (low phospholipid-associated cholelithiasis syndrome). 29635711 2018
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 Biomarker disease BEFREE Thus, ICP may unmask an underlying MDR3 defect, which may predispose to development of hepatobiliary diseases such as gallstone disease, liver fibrosis/cirrhosis, as well as hepatobiliary malignancies. 27936482 2016
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease BEFREE ABCB4 gene mutations leading to a multidrug resistance (MDR)3-P-glycoprotein deficiency are related to, among other diseases, recurrent cholelithiasis. 25612754 2015
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease BEFREE Whereas rare mutations of this transporter were known to cause progressive familial intrahepatic cholestasis, the genome-wide association studies in Iceland find the common ABCB4 variant c.711A>T to be a general risk factor for elevated aminotransferases and higher impact variants to be potential determinants of early-onset gallstone disease, cholestasis of pregnancy, liver cirrhosis, and hepatobiliary cancer. 26410236 2015
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease BEFREE Variations of the ABCB4 and ABCB11 genes affect the composition of bile and are associated with cholestasis and cholelithiasis. 25323205 2015
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease BEFREE Clinical criteria for LPAC syndrome caused by mutations in ABCB4 cannot be applied to pediatric patients with idiopathic gallstones. 24914347 2014
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease BEFREE The young age of the patient, recurrence of gallstones after cholecystectomy and intrahepatic gallstones suggested a subtype of the low-phospholipid associated cholelithiasis syndrome, a monogenic form of cholesterol cholelithiasis due to variations of the ABCB4 gene that encodes the canalicular phospholipid transporter MDR3. 23619268 2013
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease BEFREE In our study we investigated the contribution of heterozygosity for common variations considered either potentially pathogenic or susceptibility alleles for cholesterol cholelithiasis in adults (c.523A>G (p.Thr175Ala) and c.1954A>G (p.Arg652Gly) in ABCB4, c.1331T>C (p.Val444Ala) in ABCB11 and c.55 G>C (p.Asp19His) in ABCG8) to the aetiology of paediatric idiopathic gallstone disease. 20163776 2010
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease BEFREE Common variants of ABCB4 and ABCB11 and plasma lipid levels: a study in sib pairs with gallstones, and controls. 19408031 2009
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease BEFREE Thus, mutations in the ABCB4 gene are a rare cause of gallstone disease. 19018976 2009
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease LHGDN 48 mutations of MDR3 gene have been reported in humans to date, from which 43 (89.5%) in the coding region, and 5 splice site mutations have been associated to cholesterol cholelithiasis. 17786139 2007
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease BEFREE Low phospholipid-associated cholelithiasis (LPAC) is characterized by the association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. 17562004 2007
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease LHGDN Low phospholipid-associated cholelithiasis (LPAC) is characterized by the association of ABCB4 mutations and low biliary phospholipid concentration with symptomatic and recurring cholelithiasis. 17562004 2007
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease BEFREE This study demonstrates that splicing mutations in the MDR3 gene can cause ICP with normal gamma-GT and may be associated with stillbirths and gallstone disease. 17187437 2007
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 GeneticVariation disease BEFREE Our results show that ABCB4 gene mutations represent a major genetic risk factor in a symptomatic and recurring form of cholelithiasis in young adults. 12891548 2003
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 Biomarker disease HPO
Entrez Id: 5244
Gene Symbol: ABCB4
ABCB4
0.500 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 374569
Gene Symbol: ASPG
ASPG
0.300 Biomarker disease CTD_human Cholelithiasis and choledocholithiasis after sequential cytarabine and asparaginase. 12902918 2003
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
0.200 GeneticVariation disease BEFREE Variants in ABCG8 and TRAF3 genes confer risk for gallstone disease in admixed Latinos with Mapuche Native American ancestry. 30692554 2019
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
0.200 GeneticVariation disease BEFREE Patients with Gaucher disease type 1 (GD1) show an altered lipid profile and a certain degree of insulin resistance, which might contribute to cholelithiasis (CL) and could possibly be associated with ABCG5/ABCG8 gene variants. 27981300 2016
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
0.200 GeneticVariation disease BEFREE A genome-wide association study (GWAS) of 280 cases identified the hepatic cholesterol transporter ABCG8 as a locus associated with risk for gallstone disease, but findings have not been reported from any other GWAS of this phenotype. 27094239 2016
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
0.200 GeneticVariation disease BEFREE Polymorphic variations in STSL have been linked to lipid levels and gallstone disease in whites. 24811295 2014
Entrez Id: 64241
Gene Symbol: ABCG8
ABCG8
0.200 GeneticVariation disease BEFREE Mutational analysis of ABCB4, screening for copy number variations by multiplex ligation-dependent probe amplification, genotyping for low expression allele c.1331T>C of ABCB11 and genotyping for variation c.55G>C in ABCG8 previously associated with cholesterol gallstones in adults was performed in 35 pediatric subjects with idiopathic gallstones who fulfilled the clinical criteria for low phospholipid-associated cholelithiasis syndrome (LPAC, OMIM #600803) and in 5 young females with suspected LPAC and their families (5 probands, 15 additional family members). 24914347 2014