Mitochondria Phenome Knowledgebase

Phenotypic Feature Anemia finds 35 Gene-Feature associations that are associated with 34 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCB7 301310 Anemia hypochromic; microcytic; sideroblastic; pappenheimer bodies hematologic 4045952 10196363 11050011 11118249 11843825
ACSL6 604443 Anemia refractory anemia with excess of blasts hematologic 10502316
AGXT 259900 Anemia hematologic 10586179
ALAS2 301300 Anemia hypochromic; sideroblastic; microcytic; anisocytosis; poikilocytosis; bizarre echinocytes; tear drop poikilocytes hematologic 1570328 7560104 7949148 8107717 10029606 10577279 11110715 12031592 12393718 12531813 12663458 15477213 16446107 16540354
ATP7B 277900 Anemia hemolytic anemia; coombs positive hemolytic anemia hematologic 9160075 10721669 12376745 15609699 16416207
BCL2 151400 Anemia hemolytic; autoimmune; refractory anemia hematologic 10561025 11699413
CASP8 607271 Anemia hematologic 15492869
COX10 220110 Anemia macrocytic hematologic 12928484
CPOX 121300 Anemia hemolytic; sideroblasts; dyserythropoiesis; erythroblastosis; dacryocytes; eptocytes; echinocytes hematologic 6886003 9454777 11739202 16159891
CYBB 306400 Anemia dimorphic anemia; anisocytosis hematologic 15308575
DGUOK 251880 Anemia hematologic 16263314
DNAJC19 608977 Anemia microcytic; normochromic hematologic 16055927
ECGF1 603041 Anemia iron deficiency hematologic 12177387
ETFA 231680 Anemia extreme anemia hematologic 12815589
FECH 177000 Anemia mild; hemolytic; hemolysis; refractory anemia hematologic 1251847 8244265 10433022 10832676 11886534
FXN 229300 Anemia iron deficiency; mild hematologic 12480086
HADHA 609016 Anemia several patients had anemia; microangiopathic hemolytic anemia hematologic 8931405 9003853 9403664
HK1 235700 Anemia hemolytic; haemolytic anemia; nonspherocytic; normocromic; normal osmotic fragility; anemic; anisocytosis; poikilocytosis; anisopoikilocytosis; Howell jolly bodies hematologic 3091919 4027385 6848140 10916679 12211198 12393545
HMGCL 246450 Anemia macrocytic hematologic 11461194
HSD17B10 300438 Anemia microcytic hematologic 16148061
IVD 243500 Anemia hematologic 2124776
MTRR 236270 Anemia megaloblastic; normocytic; macrocytic hematologic 2860337 6700644 9501215 10484769 12555939 12971424 15714522
MUT 251000 Anemia macrocytic hematologic 11350191 12118529 16281286 16451139
NDUFA12L 252010 Anemia microcytic hematologic 16200211
NDUFS1 252010 Anemia macrocytic hematologic 11349233
OAT 258870 Anemia severe; dyserythroblastic hematologic 16151897
OAT 258870 Bone-marrow-diseases dyserythroblastic anemia; binucleate erythroblasts; trinucleate erythroblasts hematologic 16151897
PDHX 245349 Anemia hemolytic hematologic 11935326
PUS1 600462 Anemia sideroblastic; microcytic; hypochromic hematologic 7726239 14981724 15971356
RMRP 250250 Anemia macrocytic anemia; congenital; hypoplastic anemia; aplastic anemia; Diamond Blackfan type hypoplastic anaemia hematologic 7981754 8444246 11035826 11207361 12888988 14284412 14569125
SLC19A2 249270 Anemia megaloblastic; sideroblastic; aplastic; macrocytic; poikilocytosis; anisocytosis hematologic 5767338 6472386 9399900 10391221 10874303 10978358 11380424 14627317 14994241 16373304
SLC25A13 603471 Anemia hematologic 11432966
SLC25A13 605814 Anemia hemolytic anemia; normocytic anemia hematologic 15542392
SLC25A20 212138 Anemia hematologic 10408757
SUCLA2 609560 Anemia chronic; microcytic hematologic 15877282
UROS 263700 Anemia anemic; hemolytic; hemolytic anemia; chronic hemolysis hematologic 9092747 9188670 9834209 11254675 12060112 12533808 15065102 15304101

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