megaloblastic anemia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. (Human Disease Ontology, DOID_13382)
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16 genes associated with the megaloblastic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AMN amnion associated transmembrane protein
CUBN cubilin (intrinsic factor-cobalamin receptor)
DHFR dihydrofolate reductase
FTCD formimidoyltransferase cyclodeaminase
GIF gastric intrinsic factor (vitamin B synthesis)
HPRT1 hypoxanthine phosphoribosyltransferase 1
LMBRD1 LMBR1 domain containing 1
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
PHGDH phosphoglycerate dehydrogenase
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC46A1 solute carrier family 46 (folate transporter), member 1
UMPS uridine monophosphate synthetase
WFS1 Wolfram syndrome 1 (wolframin)