Mitochondria Phenome Knowledgebase

Phenotypic Feature Bone-marrow-diseases finds 20 Gene-Feature associations that are associated with 20 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCB7 301310 Bone-marrow-diseases ring sideroblasts; imperfect ring forms hematologic 4045952 10196363 11118249 11843825
ACSL6 604443 Bone-marrow-diseases myelodysplasia; hypercellular bone marrow; dystrophic megakaryocytes hematologic 10502316 16572202
ALAS2 301300 Bone-marrow-diseases myelodysplasia; myelofibrosis; hypercellular; hypererythroid; dyserythropoiesis; ringed sideroblasts; erythroid hyperplasia; ring sideroblasts hematologic 1570328 7560104 8107717 10029606 10577279 11110715 12031592 12393718 12531813 12663458 15477213 16446107 16540354
BAX 600040 Bone-marrow-diseases hematopoietic abnormalities; plasmacytoma; hematopoietic malignancies hematologic 7475270 9531611
BCL2 151400 Bone-marrow-diseases myelodysplasia; bone marrow involvement; infiltration; bone marrow infiltration; bone marrow failure; paratrabecular nodules; bone marrow blastosis hematologic 10733261 11120335 11557789 11699413 12200703 15748964
CASP8 607271 Bone-marrow-diseases erythroid hyperplasia hematologic 15492869
CPOX 121300 Bone-marrow-diseases hyperplastic bone marrow; 50% erythroblasts hematologic 9454777
CYBB 306400 Bone-marrow-diseases myeloid erythroid ratio increased; bone marrow fibrosis; hematopoiesis abnormal; myelodysplasia hematologic 15308575 16138344
FECH 177000 Bone-marrow-diseases myelodysplasia; myeloproliferative disorder; hypercellular; megakaryocytes elevated; porphyric erythroid cells; extramedullary hematopoiesis; ring sideroblasts hematologic 11886534 16150949 16315313
HADHA 609016 Bone-marrow-diseases proerythroblasts abnormal; proerythroblasts vacuolization hematologic 9003853
HK1 235700 Bone-marrow-diseases active macrocytic erythropoiesis; active megakaryopoiesis; erythroid hyperplasia hematologic 4027385 6848140 12393545
IVD 243500 Bone-marrow-diseases hypoplastic bone marrow; myelopoiesis abnormal; promyelocytes abnormal; myeloblasts elevated; myelodysplasia; extramedullary hematopoiesis; bone marrow suppression hematologic 10191353 16602101
MTRR 236270 Bone-marrow-diseases dyserythropoietic bone marrow; megaloblastic changes; megaloblastosis hematologic 12555939 12971424
OAT 258870 Bone-marrow-diseases dyserythroblastic anemia; binucleate erythroblasts; trinucleate erythroblasts hematologic 16151897
PANK2 234200 Bone-marrow-diseases histiocytes with pale blue homogeneous cytoplasm; proliferation of sea blue histiocytes hematologic 15465096 15812126
PCCB 606054 Bone-marrow-diseases hypocellular; hypocellular marrow hematologic 10488817
PUS1 600462 Bone-marrow-diseases hyperplastic bone marrow; erythroid hyperplasia; ring shaped sideroblasts hematologic 14981724 15971356
RMRP 250250 Bone-marrow-diseases hypocellular; without erythropoiesis; hypoplastic myeloid lineage; hypoplastic bone marrow; deficient erythrogenesis; erythrocyte macrocytosis hematologic 7981754 11370774 14569125
SLC19A2 249270 Bone-marrow-diseases myelodysplasia; sideroblasts; hypercellularity; megaloblastic changes; erythroid hyperplasia; dominance of myeloid cells; ring sideroblasts hematologic 5767338 10978358 11380424 14627317 14994241 16373304
TAZ 302060 Bone-marrow-diseases maturation stop; promyelocyte stage; relative increase monocytes eosinophils hematologic 15098233

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