SLC4A2, solute carrier family 4 member 2, 6522

N. diseases: 35; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.390 GeneticVariation disease BEFREE Of note, two SLC4A2 variants appear to influence AMA status among PBC patients. 19491853 2009
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.390 GeneticVariation disease BEFREE CTLA4 and SLC4A2 genetic polymorphisms are differentially associated with PBC development and progression, as well as anti-gp210 or anti-centromere antibody production, in Japanese PBC patients. 21594562 2011
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0029454
Disease: Osteopetrosis
Osteopetrosis 		0.010 GeneticVariation disease BEFREE These results indicate that a deletion mutation within bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle. 20507629 2010
CUI: C2609268
Disease: Low phospholipid-associated cholelithiasis
Low phospholipid-associated cholelithiasis 		0.010 GeneticVariation disease BEFREE Interestingly, heterozygous and homozygous SLC4A2 missense variants were detected in patients with low phospholipid-associated cholelithiasis. 31538484 2019
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.500 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.500 Biomarker disease RGD Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.390 Biomarker disease BEFREE They also demonstrate that allelic variations in TNFalpha and SLC4A2/AE2 have a significant impact on the evolutive profile of PBC under UDCA therapy. 18930330 2008
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.390 Biomarker disease BEFREE In this review, we discuss the experimental evidence for the emerging role of the miR-506-AE2-sAC axis in PBC pathogenesis. 28962898 2018
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.390 Biomarker disease CTD_human Combination of ursodeoxycholic acid and glucocorticoids upregulates the AE2 alternate promoter in human liver cells. 18188457 2008
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		0.390 Biomarker disease BEFREE To directly address the role of AE2 in preventing PBC pathogenesis, we took advantage of our ability to isolate human BEC and autologous splenic mononuclear cells (SMC). 27592379 2016
CUI: C0008340
Disease: Choledochal Cyst
Choledochal Cyst 		0.300 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C0009439
Disease: Choledochal Cyst, Type I
Choledochal Cyst, Type I 		0.300 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		0.300 Biomarker disease CTD_human Combination of ursodeoxycholic acid and glucocorticoids upregulates the AE2 alternate promoter in human liver cells. 18188457 2008
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0238065
Disease: Secondary Biliary Cholangitis
Secondary Biliary Cholangitis 		0.300 Biomarker disease CTD_human Combination of ursodeoxycholic acid and glucocorticoids upregulates the AE2 alternate promoter in human liver cells. 18188457 2008
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.300 Biomarker disease CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C1257796
Disease: Choledochal Cyst, Type II
Choledochal Cyst, Type II 		0.300 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C1257797
Disease: Choledochal Cyst, Type III
Choledochal Cyst, Type III 		0.300 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C1257798
Disease: Choledochal Cyst, Type IV
Choledochal Cyst, Type IV 		0.300 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C1257799
Disease: Choledochal Cyst, Type V
Choledochal Cyst, Type V 		0.300 Biomarker disease CTD_human Hepatic cystogenesis is associated with abnormal expression and location of ion transporters and water channels in an animal model of autosomal recessive polycystic kidney disease. 18988797 2008
CUI: C4551595
Disease: Biliary Cirrhosis, Primary, 1
Biliary Cirrhosis, Primary, 1 		0.300 Biomarker disease CTD_human Combination of ursodeoxycholic acid and glucocorticoids upregulates the AE2 alternate promoter in human liver cells. 18188457 2008
CUI: C0002063
Disease: Alkalosis
Alkalosis 		0.200 Biomarker phenotype RGD Vacuolar H+-ATPase expression is increased in acid-secreting intercalated cells in kidneys of rats with hypercalcaemia-induced alkalosis. 17367404 2007
CUI: C0362046
Disease: Prediabetes syndrome
Prediabetes syndrome 		0.200 Biomarker disease RGD Effect of prediabetes on membrane bicarbonate transporters in testis and epididymis. 24105628 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Targeting the anion exchanger 2 with specific peptides as a new therapeutic approach in B lymphoid neoplasms. 29191842 2018