Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
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
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
0.030 GeneticVariation disease BEFREE Specific mutations in human AE1 cause several types of hereditary hemolytic anemias and/or distal renal tubular acidosis. 26542571 2015
Entrez Id: 6521
Gene Symbol: SLC4A1
SLC4A1
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