Disease Term Disease ID Gene Symbol References
NADH cytochrome B5 reductase deficiency C0268193 CYB5R3 1400360, 12393396, 15622768, 15921385, 7718898, 10807796, 15953014, 8119939, 9695975, 1898726, 9886302, 1707593
DLD 10448086, 15712224, 25251739, 23290025, 21558426, 21930696, 16601893, 8968745, 27290639, 7797549, 12925875, 20160912, 9540846, 24516753, 24777537, 28579060, 16770810, 9934985, 23995961, 14765544, 9405644, 17404228, 27604308, 11687750, 18362926, 16442803, 23478190, 1347528, 8506365, 27144126
Nadh-Cytochrome B5 Reductase Deficiency, Type I C2749561 CYB5R3
Nadh-Cytochrome B5 Reductase Deficiency, Type Ii C2749562 CYB5R3