macrocytic anemia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001972
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Genes

37 genes associated with the macrocytic anemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALAS2 5'-aminolevulinate synthase 2
AMN amnion associated transmembrane protein
ANKRD11 ankyrin repeat domain 11
CDAN1 codanin 1
CUBN cubilin (intrinsic factor-cobalamin receptor)
DHFR dihydrofolate reductase
FTCD formimidoyltransferase cyclodeaminase
GATA1 GATA binding protein 1 (globin transcription factor 1)
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
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPL11 ribosomal protein L11
RPL15 ribosomal protein L15
RPL26 ribosomal protein L26
RPL35A ribosomal protein L35a
RPL5 ribosomal protein L5
RPS10 ribosomal protein S10
RPS14 ribosomal protein S14
RPS17 ribosomal protein S17
RPS19 ribosomal protein S19
RPS24 ribosomal protein S24
RPS26 ribosomal protein S26
RPS29 ribosomal protein S29
RPS7 ribosomal protein S7
SBDS Shwachman-Bodian-Diamond syndrome
SFXN4 sideroflexin 4
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC46A1 solute carrier family 46 (folate transporter), member 1
TCN2 transcobalamin II
UMPS uridine monophosphate synthetase
WFS1 Wolfram syndrome 1 (wolframin)