Friedreich Ataxia 1 Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1856689
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Genes

113 genes associated with the disease Friedreich Ataxia 1 in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACE2 angiotensin I converting enzyme 2
ACO2 aconitase 2, mitochondrial
ACTB actin, beta
ACTC1 actin, alpha, cardiac muscle 1
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
AR androgen receptor
ATF4 activating transcription factor 4
ATXN1 ataxin 1
BAX BCL2-associated X protein
BCL2L12 BCL2-like 12 (proline rich)
BRCA2 breast cancer 2, early onset
CAPG capping protein (actin filament), gelsolin-like
CASP3 caspase 3, apoptosis-related cysteine peptidase
CAT catalase
CCK cholecystokinin
CCT3 chaperonin containing TCP1, subunit 3 (gamma)
CD46 CD46 molecule, complement regulatory protein
CD68 CD68 molecule
CHCHD4 coiled-coil-helix-coiled-coil-helix domain containing 4
COQ8A coenzyme Q8A
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CPNE3 copine III
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRTC1 CREB regulated transcription coactivator 1
CTCF CCCTC-binding factor (zinc finger protein)
CTCFL CCCTC-binding factor (zinc finger protein)-like
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6
DNM1L dynamin 1-like
DNMT1 DNA (cytosine-5-)-methyltransferase 1
EPO erythropoietin
ERBB2 erb-b2 receptor tyrosine kinase 2
EZR ezrin
FANCC Fanconi anemia, complementation group C
FMR1 fragile X mental retardation 1
FOXH1 forkhead box H1
FTH1 ferritin, heavy polypeptide 1
FTMT ferritin mitochondrial
FXN frataxin
GAA glucosidase, alpha; acid
GABARAP GABA(A) receptor-associated protein
GABPA GA binding protein transcription factor, alpha subunit 60kDa
GABRB1 gamma-aminobutyric acid (GABA) A receptor, beta 1
GFAP glial fibrillary acidic protein
GH1 growth hormone 1
GPAA1 glycosylphosphatidylinositol anchor attachment 1
GPX1 glutathione peroxidase 1
GRAP2 GRB2-related adaptor protein 2
HAMP hepcidin antimicrobial peptide
HDAC3 histone deacetylase 3
HFE hemochromatosis
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HPGDS hematopoietic prostaglandin D synthase
HSPA5 heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)
HSPA9 heat shock 70kDa protein 9 (mortalin)
ICAM1 intercellular adhesion molecule 1
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IL10 interleukin 10
IL1B interleukin 1, beta
ISCU iron-sulfur cluster assembly enzyme
LAMP1 lysosomal-associated membrane protein 1
LPL lipoprotein lipase
LYRM4 LYR motif containing 4
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MEF2C myocyte enhancer factor 2C
MIP major intrinsic protein of lens fiber
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MSH2 mutS homolog 2
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MYH2 myosin, heavy chain 2, skeletal muscle, adult
MYH4 myosin, heavy chain 4, skeletal muscle
NFE2L2 nuclear factor, erythroid 2-like 2
NPPB natriuretic peptide B
NQO1 NAD(P)H dehydrogenase, quinone 1
OPA1 optic atrophy 1 (autosomal dominant)
PCLAF PCNA clamp associated factor
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDK1 pyruvate dehydrogenase kinase, isozyme 1
PHF1 PHD finger protein 1
PIP5K1B phosphatidylinositol-4-phosphate 5-kinase, type I, beta
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
POU5F1 POU class 5 homeobox 1
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PRKAA2 protein kinase, AMP-activated, alpha 2 catalytic subunit
RACK1 receptor for activated C kinase 1
RAD51 RAD51 recombinase
RETN resistin
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
RORC RAR-related orphan receptor C
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
RUNX1 runt-related transcription factor 1
SCT secretin
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SETX senataxin
SIRT3 sirtuin 3
SLC17A7 solute carrier family 17 (vesicular glutamate transporter), member 7
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SOD2 superoxide dismutase 2, mitochondrial
SYNE1 spectrin repeat containing, nuclear envelope 1
TAT tyrosine aminotransferase
TBX1 T-box 1
TJP2 tight junction protein 2
TP53 tumor protein p53
TRAF2 TNF receptor-associated factor 2
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
VCAM1 vascular cell adhesion molecule 1
XBP1 X-box binding protein 1