friedreich ataxia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description Xref MGI. (Human Disease Ontology, DOID_12705)
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Genes

135 genes co-occuring with the disease friedreich ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
FXN frataxin 4.42748
ACO2 aconitase 2, mitochondrial 2.09571
ISCU iron-sulfur cluster assembly enzyme 2.04955
TTPA tocopherol (alpha) transfer protein 2.02703
C21ORF2 chromosome 21 open reading frame 2 1.9267
GPAA1 glycosylphosphatidylinositol anchor attachment 1 1.92529
SACS sacsin molecular chaperone 1.61396
ATXN3 ataxin 3 1.58582
PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta 1.57289
NFS1 NFS1 cysteine desulfurase 1.55424
APTX aprataxin 1.5238
FTMT ferritin mitochondrial 1.49087
C10ORF2 chromosome 10 open reading frame 2 1.40351
FTH1 ferritin, heavy polypeptide 1 1.22388
FTL ferritin, light polypeptide 1.22388
HSCB HscB mitochondrial iron-sulfur cluster co-chaperone 1.21522
SETX senataxin 1.19532
SLC25A28 solute carrier family 25 (mitochondrial iron transporter), member 28 1.13459
ABCB7 ATP-binding cassette, sub-family B (MDR/TAP), member 7 1.10594
IREB2 iron-responsive element binding protein 2 1.04251
FECH ferrochelatase 1.02945
SPTBN2 spectrin, beta, non-erythrocytic 2 0.964986
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like 0.942858
MIPEP mitochondrial intermediate peptidase 0.941611
PANK2 pantothenate kinase 2 0.931656
ATCAY ataxia, cerebellar, Cayman type 0.892948
GLRX5 glutaredoxin 5 0.885569
HDAC9 histone deacetylase 9 0.874919
PDYN prodynorphin 0.857724
SFXN1 sideroflexin 1 0.849536
PMPCB peptidase (mitochondrial processing) beta 0.848716
CS citrate synthase 0.811821
ACO1 aconitase 1, soluble 0.804436
MSH3 mutS homolog 3 0.803205
AFF2 AF4/FMR2 family, member 2 0.802795
POLG polymerase (DNA directed), gamma 0.800333
PRKACG protein kinase, cAMP-dependent, catalytic, gamma 0.792131
HDAC3 histone deacetylase 3 0.789672
CRIPT cysteine-rich PDZ-binding protein 0.779432
TFR2 transferrin receptor 2 0.758193
HEPH hephaestin 0.75412
EXOC6 exocyst complex component 6 0.753306
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1 0.746798
KLHL1 kelch-like family member 1 0.72329
TIMM44 translocase of inner mitochondrial membrane 44 homolog (yeast) 0.694702
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2 0.6939
SYNE1 spectrin repeat containing, nuclear envelope 1 0.67312
TFRC transferrin receptor 0.669936
TF transferrin 0.668345
FMR1 fragile X mental retardation 1 0.663578
MTCP1 mature T-cell proliferation 1 0.620617
CDSN corneodesmosin 0.615529
ADCK3 aarF domain containing kinase 3 0.584719
PANK1 pantothenate kinase 1 0.581217
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 0.576939
HFE hemochromatosis 0.56722
MTHFD2 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase 0.562558
OGDH oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 0.558674
SOD2 superoxide dismutase 2, mitochondrial 0.552075
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa 0.550522
GPX1 glutathione peroxidase 1 0.548583
NPTX2 neuronal pentraxin II 0.546256
CP ceruloplasmin (ferroxidase) 0.545481
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3 0.529994
MT4 metallothionein 4 0.524974
GPX5 glutathione peroxidase 5 0.517649
GPX4 glutathione peroxidase 4 0.514571
SLC25A37 solute carrier family 25 (mitochondrial iron transporter), member 37 0.509959
FGF13 fibroblast growth factor 13 0.509576
HIST2H3PS2 histone cluster 2, H3, pseudogene 2 0.495793
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive) 0.495411
H3F3B H3 histone, family 3B (H3.3B) 0.48893
H3F3A H3 histone, family 3A 0.48893
AMPD1 adenosine monophosphate deaminase 1 0.485885
MFN2 mitofusin 2 0.485125
PNKP polynucleotide kinase 3'-phosphatase 0.479047
SCAI suppressor of cancer cell invasion 0.47753
CPOX coproporphyrinogen oxidase 0.476772
HELT helt bHLH transcription factor 0.474877
SIL1 SIL1 nucleotide exchange factor 0.455601
MDH1 malate dehydrogenase 1, NAD (soluble) 0.451831
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 0.427015
MSH2 mutS homolog 2 0.418394
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit 0.412405
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast) 0.407172
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae) 0.407172
SLC39A14 solute carrier family 39 (zinc transporter), member 14 0.393746
CTCF CCCTC-binding factor (zinc finger protein) 0.391885
HMOX1 heme oxygenase 1 0.389281
POLG2 polymerase (DNA directed), gamma 2, accessory subunit 0.381852
ZFYVE26 zinc finger, FYVE domain containing 26 0.378885
JPH3 junctophilin 3 0.377773
DLST dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 0.364824
FEN1 flap structure-specific endonuclease 1 0.363347
AGK acylglycerol kinase 0.35892
FA2H fatty acid 2-hydroxylase 0.355604
PPAT phosphoribosyl pyrophosphate amidotransferase 0.351923
FOXH1 forkhead box H1 0.349717
CNBP CCHC-type zinc finger, nucleic acid binding protein 0.344207
MED1 mediator complex subunit 1 0.339073
ATP5B ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 0.334681
SIRT3 sirtuin 3 0.332487
GAD2 glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 0.32774
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 0.321545
HTT huntingtin 0.304864
INS insulin 0.300894
HFE2 hemochromatosis type 2 (juvenile) 0.299452
MSH6 mutS homolog 6 0.291898
CKM creatine kinase, muscle 0.290821
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase 0.289386
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 0.286519
MDH2 malate dehydrogenase 2, NAD (mitochondrial) 0.265849
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae) 0.264431
AFP alpha-fetoprotein 0.263368
TST thiosulfate sulfurtransferase (rhodanese) 0.240497
PLEKHG4 pleckstrin homology domain containing, family G (with RhoGef domain) member 4 0.222479
PRDX5 peroxiredoxin 5 0.220081
DLD dihydrolipoamide dehydrogenase 0.218034
COX4I1 cytochrome c oxidase subunit IV isoform 1 0.214297
DNM1 dynamin 1 0.213959
ATL1 atlastin GTPase 1 0.209248
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant 0.197742
SPG11 spastic paraplegia 11 (autosomal recessive) 0.195183
NRF1 nuclear respiratory factor 1 0.192031
C9ORF72 chromosome 9 open reading frame 72 0.190786
SIX4 SIX homeobox 4 0.188326
FDX1 ferredoxin 1 0.181222
TJP2 tight junction protein 2 0.178682
MFN1 mitofusin 1 0.175411
EGR3 early growth response 3 0.173571
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6 0.172544
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 0.166095
KLF4 Kruppel-like factor 4 (gut) 0.165001
ASNS asparagine synthetase (glutamine-hydrolyzing) 0.163729
PPARG peroxisome proliferator-activated receptor gamma 0.159124