| Acatalasemia, |
CAT |
| Anemia, hypochromic microcytic, with iron overload 2, |
STEAP3 |
| Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, |
GLRX5 |
| Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, |
SLC25A38 |
| Anemia, sideroblastic, X-linked, Protoporphyria, erythropoietic, X-linked, |
ALAS2 |
| Bleeding disorder, platelet-type, 17, |
GFI1B |
| Blood group GIL, |
AQP3 |
| Blood group, Colton, Aquaporin-1 deficiency, |
AQP1 |
| Blood group, Diego, Blood group, Waldner, Blood group, Wright, Ovalocytosis, SA type, Renal tubular acidosis, distal, AD, Cryohydrocytosis, Blood group, Swann, Blood group, Froese, Malaria, resistance to, Renal tubular acidosis, distal, AR, Spherocytosis, type 4, |
SLC4A1 |
| Blood group, Dombrock, |
ART4 |
| Blood group, Kell, |
KEL |
| Blood group, Kidd, |
SLC14A1 |
| Blood group, Landsteiner-Wiener, |
ICAM4 |
| Blood group, Langereis system, Pseudohyperkalemia, familial, 2, due to red cell leak, Microphthalmia, isolated, with coloboma 7, Dyschromatosisuniversalishereditaria 3, |
ABCB6 |
| Blood group, OK, |
BSG |
| Blood group, Radin, Blood group, Scianna system, |
ERMAP |
| Blood group, Rhesus, Rh-null disease, amorph type, |
RHCE |
| Blood group--Lutheran inhibitor, Hereditary persistence of fetal hemoglobin, Dyserythropoietic anemia, congenital, type IV, |
KLF1 |
| Bombay phenotype, |
FUT1 |
| C4B deficiency, |
C4B |
| Coproporphyria, Harderoporphyria, |
CPOX |
| D-2-hydroxyglutaric aciduria 2, |
IDH2 |
| Elliptocytosis-2, Pyropoikilocytosis, Spherocytosis, type 3, |
SPTA1 |
| Erythrocytosis due to bisphosphoglyceratemutase deficiency, |
BPGM |
| Erythrocytosis, familial, 1, |
EPOR |
| Filippi syndrome, |
CKAP2L |
| Glutaricaciduria, type I, |
GCDH |
| Glyoxalase II deficiency, |
HAGH |
| Heinz body anemia, Thalassemia, alpha-, Hemoglobin H disease, nondeletional, Erythrocytosis, Hypochromic microcytic anemia, |
HBA2 |
| Heinz body anemias, alpha-, Thalassemias, alpha-, Hemoglobin H disease, nondeletional, Erythremias, alpha-, Methemoglobinemias, alpha-, |
HBA1 |
| Hemolytic anemia due to adenylate kinase deficiency, |
AK1 |
| Hemolytic anemia due to gamma-glutamylcysteinesynthetase deficiency, Myocardial infarction, susceptibility to, |
GCLC |
| Hermansky-Pudlak syndrome 6, |
HPS6 |
| Lead poisoning, susceptibility to, Porphyria, acute hepatic, |
ALAD |
| Leukemia, acute pre-B-cell, |
PBX1 |
| Leukemia, megakaryoblastic, with or without Down syndrome, somatic, Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, Thrombocytopenia with beta-thalassemia, X-linked, |
GATA1 |
| Leukemia, T-cell acute lymphocytic, somatic, |
TAL1 |
| Majeed syndrome, |
LPIN2 |
| Malaria, resistance to, Blood group, Gerbich, |
GYPC |
| Malaria, resistance to, Blood group, MN, |
GYPA |
| Malaria, resistance to, Blood group, Ss, |
GYPB |
| McLeod syndrome with or without chronic granulomatous disease, |
XK |
| Mitochondrial complex I deficiency, |
NDUFS2 |
| Mitochondrial complex III deficiency, nuclear type 6, |
CYC1 |
| Myelodysplastic syndrome, Myelogenous leukemia, acute, |
ACSL6 |
| Overhydrated hereditary stomatocytosis, Anemia, hemolytic, Rh-null, regulator type, Rh-mod syndrome, |
RHAG |
| Platelet glycoprotein IV deficiency, Coronary heart disease, susceptibility to, 7, Malaria, cerebral, reduced risk of, Malaria, cerebral, susceptibility to, Macrothrombocytopenia, |
CD36 |
| Porphyria cutanea tarda, Porphyria, hepatoerythropoietic, |
UROD |
| Porphyria variegata, |
PPOX |
| Porphyria, acute intermittent, Porphyria, acute intermittent, nonerythroid variant, |
HMBS |
| Porphyria, congenital erythropoietic, |
UROS |
| Protoporphyria, erythropoietic, autosomal recessive, |
FECH |
| Pyruvate carboxylase deficiency, |
PC |
| Ribose 5-phosphate isomerase deficiency, |
RPIA |
| Senior-Loken syndrome 9, |
TRAF3IP1 |
| Spherocytosis, type 1, |
ANK1 |
| Spherocytosis, type 2, Anemia, neonatal hemolytic, fatal and near-fatal, Elliptocytosis-3, |
SPTB |
| Spherocytosis, type 5, |
EPB42 |
| Succinic semialdehyde dehydrogenase deficiency, |
ALDH5A1 |
| Symmetric circumferential skin creases, congenital, 1, Cortical dysplasia, complex, with other brain malformations 6, |
TUBB |
| Thalassemia due to Hb Lepore, Thalassemia, delta-, |
HBD |
| Uric acid concentration, serum, QTL1, Junior blood group system, |
ABCG2 |
| Warfarin resistance, Vitamin K-dependent clotting factors, combined deficiency of, 2, |
VKORC1 |
