macrocytic anemia Gene Set
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)
|
