Human | MMAB | 326625 | methylmalonic aciduria (cobalamin deficiency) cblB type | Pancytopenia (in 50% of patients) |
Human | MMAA | 166785 | methylmalonic aciduria (cobalamin deficiency) cblA type | Pancytopenia (in 50% of patients) |
Human | NOD2 | 64127 | nucleotide-binding oligomerization domain containing 2 | Bone marrow involvement may cause pancytopenia |
Human | BTNL2 | 56244 | butyrophilin-like 2 (MHC class II associated) | Bone marrow involvement may cause pancytopenia |
Human | NOP10 | 55505 | NOP10 ribonucleoprotein | |
Human | SBDS | 51119 | Shwachman-Bodian-Diamond syndrome | findings link Shwachman-Diamond syndrome to other bone marrow failure syndromes with defects in nucleolus-associated processes, including Diamond-Blackfan anemia, cartilage-hair hypoplasia, and dyskeratosis congenita |
Human | OSTM1 | 28962 | osteopetrosis associated transmembrane protein 1 | |
Human | TINF2 | 26277 | TERF1 (TRF1)-interacting nuclear factor 2 | |
Human | TCIRG1 | 10312 | T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 | |
Human | PSTPIP1 | 9051 | proline-serine-threonine phosphatase interacting protein 1 | Normocytic pancytopenia following sulfa use |
Human | TNFSF11 | 8600 | tumor necrosis factor (ligand) superfamily, member 11 | |
Human | TNF | 7124 | tumor necrosis factor | results support the hypothesis that a simultaneous increase in tumor necrosis factor-alpha production by bone marrow lymphocytes and sensitivity of stem cells to tumor necrosis factor-alpha leads to bone marrow failure in aplastic anemia |
Human | TERT | 7015 | telomerase reverse transcriptase | TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements DNA mutational analysis reveals first natural mutations of TERT to be described; their possible pathogenic role in the development of bone marrow failure is discussed mutations in the telomerase complex and their connections with dyskeratosis congenita and bone marrow failures [review] |
Human | TERC | 7012 | telomerase RNA component | TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements this study reports a novel telomerase natural variant that abolishes telomerase function, which may lead to telomere shortening and marrow hypocellularity in patients with bone-marrow failure syndromes Only 3 of 210 patients with aplastic anemia, paroxysmal nocturnal hemoglobinuria, or myelodysplasia showed heterozygous TERC mutations, not supporting the hypothesis that TERC mutations might underlie seemingly acquired forms of bone marrow failure mutations in the telomerase complex and their connections with dyskeratosis congenita and bone marrow failures [review] |
Human | PRF1 | 5551 | perforin 1 (pore forming protein) | PRF1 genetic alterations may represent genetic risk factors for bone marrow failure |
Human | PCCB | 5096 | propionyl CoA carboxylase, beta polypeptide | |
Human | PCCA | 5095 | propionyl CoA carboxylase, alpha polypeptide | |
Human | MPL | 4352 | myeloproliferative leukemia virus oncogene | |
Human | SH2D1A | 4068 | SH2 domain containing 1A | |
Human | IVD | 3712 | isovaleryl-CoA dehydrogenase | |
Human | HOXA11 | 3207 | homeobox A11 | |
Human | HLA-DRB1 | 3123 | | Bone marrow involvement may cause pancytopenia |
Human | GBA | 2629 | glucosidase, beta, acid | |
Human | FANCA | 2175 | Fanconi anemia, complementation group A | |
Human | DKC1 | 1736 | dyskeratosis congenita 1, dyskerin | mutations in the telomerase complex and their connections with dyskeratosis congenita and bone marrow failures [review] |