Sideroblastic Anemia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). (Human Disease Ontology, DOID_8955)
External Link https://www.disgenet.org/browser/0/1/0/C0002896
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Genes

33 genes associated with the disease Sideroblastic Anemia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7
ABCG2 ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)
ALAS1 5'-aminolevulinate synthase 1
ALAS2 5'-aminolevulinate synthase 2
COX1
CRBN cereblon
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
FANCB Fanconi anemia, complementation group B
FTMT ferritin mitochondrial
FXN frataxin
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDF15 growth differentiation factor 15
GLRX5 glutaredoxin 5
GYPA glycophorin A (MNS blood group)
GYPB glycophorin B (MNS blood group)
GYPE glycophorin E (MNS blood group)
HFE hemochromatosis
HSPA9 heat shock 70kDa protein 9 (mortalin)
INTS1 integrator complex subunit 1
ISCU iron-sulfur cluster assembly enzyme
JAK2 Janus kinase 2
LARS2 leucyl-tRNA synthetase 2, mitochondrial
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa
PUS1 pseudouridylate synthase 1
QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC25A38 solute carrier family 25, member 38
SOD2 superoxide dismutase 2, mitochondrial
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TRNT1 tRNA nucleotidyl transferase, CCA-adding, 1
WFS1 Wolfram syndrome 1 (wolframin)
WNT1 wingless-type MMTV integration site family, member 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial