Disease Term Disease ID Gene Symbol References
Xerocytosis C0272051 KCNN4 26148990, 26198474
SLC4A1 16227998
PIEZO1 22529292, 23581886, 23695678
DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA C4551512 PIEZO1 23581886, 22529292, 26387913, 23479567, 23695678, 23973043, 23487776