sideroblastic anemia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
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)
Similar Terms
Downloads & Tools

Genes

109 genes co-occuring with the disease sideroblastic anemia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
ALAS2 5'-aminolevulinate synthase 2 2.96927
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 2.30241
ALAS1 5'-aminolevulinate synthase 1 2.24045
PUS1 pseudouridylate synthase 1 2.12467
SLC25A38 solute carrier family 25, member 38 2.01887
GLRX5 glutaredoxin 5 1.9577
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial 1.81645
SFXN2 sideroflexin 2 1.5934
FTL ferritin, light polypeptide 1.49964
FTH1 ferritin, heavy polypeptide 1 1.49921
FECH ferrochelatase 1.49482
RARS arginyl-tRNA synthetase 1.35594
PUS3 pseudouridylate synthase 3 1.24254
GOT1 glutamic-oxaloacetic transaminase 1, soluble 1.22649
SFXN1 sideroflexin 1 1.22605
YARS tyrosyl-tRNA synthetase 1.20526
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial 1.19316
ISCU iron-sulfur cluster assembly enzyme 1.14051
SFSWAP splicing factor, suppressor of white-apricot family 1.09713
GALNT9 polypeptide N-acetylgalactosaminyltransferase 9 1.05723
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit 1.05723
PDXK pyridoxal (pyridoxine, vitamin B6) kinase 1.04798
SLC25A40 solute carrier family 25, member 40 1.0071
TRNT1 tRNA nucleotidyl transferase, CCA-adding, 1 0.992752
TFR2 transferrin receptor 2 0.97212
HFE hemochromatosis 0.95369
TF transferrin 0.944106
PJA1 praja ring finger 1, E3 ubiquitin protein ligase 0.921736
CPOX coproporphyrinogen oxidase 0.920085
FXN frataxin 0.879424
HFE2 hemochromatosis type 2 (juvenile) 0.874509
EGOT eosinophil granule ontogeny transcript (non-protein coding) 0.870825
ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10 0.849945
TFRC transferrin receptor 0.822897
ALAD aminolevulinate dehydratase 0.778204
FTMT ferritin mitochondrial 0.745578
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 0.737865
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37 0.714005
HAMP hepcidin antimicrobial peptide 0.709975
SLC19A2 solute carrier family 19 (thiamine transporter), member 2 0.680697
ATCAY ataxia, cerebellar, Cayman type 0.678701
MDH2 malate dehydrogenase 2, NAD (mitochondrial) 0.668742
UROD uroporphyrinogen decarboxylase 0.60186
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 0.592506
MMP17 matrix metallopeptidase 17 (membrane-inserted) 0.583941
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 0.573828
UROS uroporphyrinogen III synthase 0.561004
EP400 E1A binding protein p400 0.541217
SFXN4 sideroflexin 4 0.538506
SORD sorbitol dehydrogenase 0.51842
BPIFA1 BPI fold containing family A, member 1 0.496175
MT-ATP8 ATP synthase F0 subunit 8 0.484744
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase) 0.47753
HBB hemoglobin, beta 0.457864
ACO2 aconitase 2, mitochondrial 0.449947
GGT1 gamma-glutamyltransferase 1 0.442042
ACO1 aconitase 1, soluble 0.413527
ENO3 enolase 3 (beta, muscle) 0.406798
STOM stomatin 0.406425
ALPPL2 alkaline phosphatase, placental-like 2 0.404931
ALPP alkaline phosphatase, placental 0.404557
ALPL alkaline phosphatase, liver/bone/kidney 0.404184
ABAT 4-aminobutyrate aminotransferase 0.399707
GGT2 gamma-glutamyltransferase 2 0.391141
HMBS hydroxymethylbilane synthase 0.388538
PGK1 phosphoglycerate kinase 1 0.386679
ULK1 unc-51 like autophagy activating kinase 1 0.382966
TADA1 transcriptional adaptor 1 0.369628
HEPH hephaestin 0.367779
CHPF chondroitin polymerizing factor 0.35082
NFE2 nuclear factor, erythroid 2 0.317182
TDO2 tryptophan 2,3-dioxygenase 0.313189
IL3 interleukin 3 0.309566
RPIA ribose 5-phosphate isomerase A 0.309566
SEC23B Sec23 homolog B (S. cerevisiae) 0.300894
PKLR pyruvate kinase, liver and RBC 0.300173
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.290821
PIDD1 p53-induced death domain protein 1 0.289027
PANK2 pantothenate kinase 2 0.287952
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial 0.256652
PKM pyruvate kinase, muscle 0.238403
TFE3 transcription factor binding to IGHM enhancer 3 0.233704
SACS sacsin molecular chaperone 0.232489
GFM1 G elongation factor, mitochondrial 1 0.206248
CD2 CD2 molecule 0.201962
IL2RG interleukin 2 receptor, gamma 0.192344
APRT adenine phosphoribosyltransferase 0.188938
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 0.186811
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.182957
TKT transketolase 0.177029
HTRA2 HtrA serine peptidase 2 0.176757
SOD2 superoxide dismutase 2, mitochondrial 0.173571
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0.168617
NPTX2 neuronal pentraxin II 0.167682
TFAM transcription factor A, mitochondrial 0.160387
MDH1 malate dehydrogenase 1, NAD (soluble) 0.139054
CDSN corneodesmosin 0.138843
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 0.137832
TET2 tet methylcytosine dioxygenase 2 0.137704
C10ORF2 chromosome 10 open reading frame 2 0.137531
LDHA lactate dehydrogenase A 0.137509
POLG polymerase (DNA directed), gamma 0.136222
LARS leucyl-tRNA synthetase 0.135495
TAT tyrosine aminotransferase 0.134838
CS citrate synthase 0.134193
ACPP acid phosphatase, prostate 0.134143
HK1 hexokinase 1 0.133204
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble 0.130952
AHSG alpha-2-HS-glycoprotein 0.12972