Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT 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: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT Band 3Tambaú: a de novo mutation in the AE1 gene associated with hereditary spherocytosis. Implications for anion exchange and insertion into the red blood cell membrane. 15813913 2005
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 Biomarker disease MGD Cell-specific mitotic defect and dyserythropoiesis associated with erythroid band 3 deficiency. 12669066 2003
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III. 11380459 2001
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT Severe hereditary spherocytosis and distal renal tubular acidosis associated with the total absence of band 3. 10942416 2000
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. 10745622 2000
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease CLINVAR Characteristic features of the genotype and phenotype of hereditary spherocytosis in the Japanese population. 10745622 2000
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT Arginine 490 is a hot spot for mutation in the band 3 gene in hereditary spherocytosis. 10580570 1999
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT Band 3 Tokyo: Thr837-->Ala837 substitution in erythrocyte band 3 protein associated with spherocytic hemolysis. 9973643 1998
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 Biomarker disease GENOMICS_ENGLAND Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis. 9600966 1998
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus. 9012689 1997
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 CausalMutation disease CLINVAR Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. 9207478 1997
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis. 9207478 1997
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects. 9233560 1997
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. 8640229 1996
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency. 8943874 1996
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 Biomarker disease GENOMICS_ENGLAND Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11. 8547122 1995
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11. 8547122 1995
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT Mutations of conserved arginines in the membrane domain of erythroid band 3 lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis. 7530501 1995
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 GeneticVariation disease UNIPROT Band 3 Tuscaloosa: Pro327----Arg327 substitution in the cytoplasmic domain of erythrocyte band 3 protein associated with spherocytic hemolytic anemia and partial deficiency of protein 4.2. 1378323 1992
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 Biomarker disease GENOMICS_ENGLAND Deletion in erythrocyte band 3 gene in malaria-resistant Southeast Asian ovalocytosis. 1722314 1991
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
0.900 Biomarker disease CTD_human
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis
0.800 GeneticVariation disease BEFREE Mutations in adenosine triphosphate ATP6V1 (B1 H<sup>+</sup>-ATPase subunit), ATPV0A4 (a4 H<sup>+</sup>-ATPase subunit), SLC4A1 (anion exchanger 1), and FOXI1 (forkhead transcription factor) cause distal renal tubular acidosis type I. Carbonic anhydrase II mutations affect several nephron segments and give rise to a mixed proximal and distal phenotype. 31300090 2019
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis
0.800 Biomarker 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