Friedreich Ataxia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Xref MGI. (Human Disease Ontology, DOID_12705)
External Link https://www.disgenet.org/browser/0/1/0/C0016719
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Genes

84 genes associated with the disease Friedreich Ataxia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AGTR1 angiotensin II receptor, type 1
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
APOA1 apolipoprotein A-I
APTX aprataxin
ATN1 atrophin 1
ATXN1 ataxin 1
ATXN10 ataxin 10
ATXN2 ataxin 2
ATXN3 ataxin 3
C16ORF82 chromosome 16 open reading frame 82
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CASP3 caspase 3, apoptosis-related cysteine peptidase
CD34 CD34 molecule
CHMP1B charged multivesicular body protein 1B
CIR1 corepressor interacting with RBPJ, 1
COG5 component of oligomeric golgi complex 5
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRTC1 CREB regulated transcription coactivator 1
CSF3 colony stimulating factor 3 (granulocyte)
CTCF CCCTC-binding factor (zinc finger protein)
CTCFL CCCTC-binding factor (zinc finger protein)-like
DLD dihydrolipoamide dehydrogenase
EPO erythropoietin
FTMT ferritin mitochondrial
FXN frataxin
GAA glucosidase, alpha; acid
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GLRX5 glutaredoxin 5
GPAA1 glycosylphosphatidylinositol anchor attachment 1
GRAP2 GRB2-related adaptor protein 2
HAMP hepcidin antimicrobial peptide
HDAC3 histone deacetylase 3
HFE hemochromatosis
HSPA9 heat shock 70kDa protein 9 (mortalin)
IFNB1 interferon, beta 1, fibroblast
IFNG interferon, gamma
ISCU iron-sulfur cluster assembly enzyme
JPH3 junctophilin 3
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KIF1B kinesin family member 1B
LPA lipoprotein, Lp(a)
LY6E lymphocyte antigen 6 complex, locus E
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MFN2 mitofusin 2
MLH1 mutL homolog 1
MLH3 mutL homolog 3
NCF2 neutrophil cytosolic factor 2
NFE2L2 nuclear factor, erythroid 2-like 2
PCLAF PCNA clamp associated factor
PDLIM1 PDZ and LIM domain 1
PDYN prodynorphin
PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POLG polymerase (DNA directed), gamma
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PVALB parvalbumin
PYCARD PYD and CARD domain containing
RNF126 ring finger protein 126
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
S100A4 S100 calcium binding protein A4
SETX senataxin
SIRT3 sirtuin 3
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7
SPG7 spastic paraplegia 7 (pure and complicated autosomal recessive)
SRF serum response factor (c-fos serum response element-binding transcription factor)
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TFRC transferrin receptor
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TJP2 tight junction protein 2
TNNT1 troponin T type 1 (skeletal, slow)
TNNT2 troponin T type 2 (cardiac)
TP53 tumor protein p53
TTPA tocopherol (alpha) transfer protein
TWNK twinkle mtDNA helicase
TYMS thymidylate synthetase
USP7 ubiquitin specific peptidase 7 (herpes virus-associated)
VIM vimentin