Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000731
Disease: Abdomen distended
Abdomen distended
0.100 Biomarker phenotype HPO
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
Abnormality of metabolism/homeostasis
0.100 Biomarker phenotype HPO
CUI: C4015904
Disease: ACANTHOCYTOSIS DUE TO BAND 3 HT
ACANTHOCYTOSIS DUE TO BAND 3 HT
0.100 CausalMutation phenotype CLINVAR
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
Acute Erythroblastic Leukemia
0.010 AlteredExpression disease BEFREE Forced FOG1 expression in human K562 erythroleukemia cells induced the expression of erythroid genes (SLC4A1, globins) but repressed that of GATA-2 and PU.1. 28216155 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.010 Biomarker group LHGDN Expression of anion exchanger 1 sequestrates p16 in the cytoplasm in gastric and colonic adenocarcinoma. 17971901 2007
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy
0.010 Biomarker disease BEFREE The proportions of HCC accounted for by CHC and ALD remained stable (both trend P > .10), the proportion of CHB decreased 3.1-fold (P < .0001), while the proportion of NASH in HCC increased 7.7-fold (from 2.1% to 16.2%; P < .0001). 29908364 2019
CUI: C2347748
Disease: Adult Erythroleukemia
Adult Erythroleukemia
0.010 AlteredExpression disease BEFREE Forced FOG1 expression in human K562 erythroleukemia cells induced the expression of erythroid genes (SLC4A1, globins) but repressed that of GATA-2 and PU.1. 28216155 2017
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 Biomarker disease BEFREE The effect of CHC (MCT inhibitor) and MCT1 silencing was assessed in in vitro and in vivo glioblastoma models. 23258846 2013
CUI: C3887650
Disease: Adult Rickets
Adult Rickets
0.100 Biomarker disease HPO
CUI: C0002063
Disease: Alkalosis
Alkalosis
0.200 Biomarker phenotype RGD Expression of rat kidney anion exchanger 1 in type A intercalated cells in metabolic acidosis and alkalosis. 10600930 1999
CUI: C0039585
Disease: Androgen-Insensitivity Syndrome
Androgen-Insensitivity Syndrome
0.010 AlteredExpression disease BEFREE CHC knockdown upregulated the membrane Ob-R levels and enhanced leptin's effects on AIS primary chondrocytes; The underlying mechanism of chondrocytes that are hyposensitive to leptin in some girls with AIS is low plasma membrane Ob-R expression that results from an imbalance between the rate of receptor endocytosis and the insertion of newly synthesized receptors into the membrane. 27447624 2016
CUI: C0002871
Disease: Anemia
Anemia
0.010 GeneticVariation disease BEFREE Promoter polymorphism of the anion-exchange protein 1 associated with severe malarial anemia and fatality. 16960783 2006
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 GeneticVariation disease BEFREE dRTA and hemolytic anemia: first detailed description of SLC4A1 A858D mutation in homozygous state. 22126643 2012
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 GeneticVariation disease BEFREE Taken together, the coexistence of both homozygous or compound heterozygous SLC4A1 mutations and hemoglobinopathy has a combined effect on red cell morphology and degree of hemolytic anemia, which is aggravated by acidosis. 18266205 2008
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 GeneticVariation disease BEFREE These point mutations were associated with hemolytic anemia, and it was shown that they confer a cation transport feature to the human AE1. 17554061 2007
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 Biomarker disease HPO
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 GeneticVariation disease LHGDN Taken together, the coexistence of both homozygous or compound heterozygous SLC4A1 mutations and hemoglobinopathy has a combined effect on red cell morphology and degree of hemolytic anemia, which is aggravated by acidosis. 18266205 2008
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 Biomarker disease BEFREE We have previously characterized twenty AE1 gene defects underlying spherocytic haemolytic anaemia with band 3 deficiency. 9306337 1997
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 Biomarker disease LHGDN These point mutations were associated with hemolytic anemia, and it was shown that they confer a cation transport feature to the human AE1. 17554061 2007
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 Biomarker disease CTD_human Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 16227998 2005
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.450 GeneticVariation disease BEFREE These mutations comprise a group almost entirely distinct from the SLC4A1 mutations that underlie the familial hemolytic anemia of hereditary spherocytosis. 15067510 2004
CUI: C0002879
Disease: Anemia, Hemolytic, Acquired
Anemia, Hemolytic, Acquired
0.300 Biomarker disease CTD_human Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. 16227998 2005
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital
0.030 GeneticVariation disease BEFREE Various mutations in the AE1 (anion exchanger 1, band 3) gene cause dominant hereditary spherocytosis, a common congenital hemolytic anemia associated with deficiencies of AE1 of different degrees and loss of mutant protein from red blood cell membranes. 16912075 2006
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital
0.030 GeneticVariation disease BEFREE Additional manifestations include bone demineralization (rickets, osteomalacia), growth deficiency, sensorineural hearing loss (in <i>ATP6V0A4-</i>, <i>ATP6V1B1-</i>, and <i>FOXI1-</i>dRTA), and hereditary hemolytic anemia (in some individuals with <i>SLC4A1-</i>dRTA). 31600869 2019