Hemoglobinopathy

Disease Term Disease ID Gene Symbol References
Hemoglobin F Disease C0019025 CAD 38827
DHODH 38827
EPO 16225658
HBA2 17292142
HBB 19050890, 6280057, 6270663, 23975182, 88735, 16755567, 3021607
HBG1 6210198, 24144231
HBG2 25435729, 24144231, 19050890
LCN2 16755567
TFR2 16755567
TFRC 16755567
UMPS 38827
CACNA1H 31542421
KLF1 20676099
HAMP 16755567
HBB-LCR
Hemoglobinopathies C0019045 HBB 26635043, 6733281, 7860732, 20113284, 23590658, 1974422, 17008283, 5059650, 1520612, 1428943, 9140720, 9101280, 2018842, 1686262, 6714226, 6859036, 21797703, 10081984, 11857738, 12368169, 8111050, 1850955, 3403716, 18096416, 27207683, 16987801, 20132300, 9401495, 1384315, 12779277, 21523319, 3955238, 8037185, 8199027, 20437613, 1814858, 15481885, 9101288, 20309827, 12144056, 15315794, 1769663, 18294253, 23383304, 11722417, 24450243, 1117598, 21599435, 25408857, 15481896, 10490144, 14734204, 19254853, 8980256, 8435318, 20395516, 27821015, 1536956, 17949282, 2901867, 8619407, 12403498, 15108284, 8081396, 11857746, 25332589, 12709369, 20704537, 19429541, 21119755, 18976160, 26372288, 19486366, 19460936, 24828949, 25089872, 7632967, 27828729, 22392582, 22239493, 3780671, 7158624, 5773089, 21389146, 21423179, 5782115, 9495372, 12752111, 28366028, 10815781, 2014803, 28603845, 20524821, 3942130, 3006832, 6086605, 23321370, 19437135, 12955718, 8701949, 15761692, 1986379, 10840054, 18339318, 22074124, 18954999, 3457470