Disease Term Disease ID Gene Symbol Classification References Source
NADH cytochrome B5 reductase deficiency C0268193 CYB5R3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1400360, 1707593, 1898726, 7718898, 8119939, 9695975, 9886302, 10807796, 12393396, 15622768, 15921385, 15953014 -
DLD Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 1347528, 7797549, 8506365, 8968745, 9405644, 9540846, 9934985, 10448086, 11687750, 12925875, 14765544, 15712224, 16442803, 16601893, 16770810, 17404228, 18362926, 20160912, 21558426, 21930696, 23290025, 23478190, 23995961, 24516753, 24777537, 25251739, 27144126, 27290639, 27604308, 28579060 -
Nadh-Cytochrome B5 Reductase Deficiency, Type I C2749561 CYB5R3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Nadh-Cytochrome B5 Reductase Deficiency, Type Ii C2749562 CYB5R3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -