Fragile X Tremor/Ataxia Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1839780
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Genes

58 genes associated with the disease Fragile X Tremor/Ataxia Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
APOE apolipoprotein E
ASPSCR1 alveolar soft part sarcoma chromosome region, candidate 1
ATM ATM serine/threonine kinase
ATXN10 ataxin 10
BEAN1 brain expressed, associated with NEDD4, 1
BRCA2 breast cancer 2, early onset
C9ORF72 chromosome 9 open reading frame 72
CDK5 cyclin-dependent kinase 5
DAXX death-domain associated protein
DCTN4 dynactin 4 (p62)
DGCR8 DGCR8 microprocessor complex subunit
DIP2B DIP2 disco-interacting protein 2 homolog B (Drosophila)
DOCK11 dedicator of cytokinesis 11
DROSHA drosha, ribonuclease type III
EXOSC7 exosome component 7
FANCD2 Fanconi anemia, complementation group D2
FMR1 fragile X mental retardation 1
FXN frataxin
GRM5 glutamate receptor, metabotropic 5
GTF2H1 general transcription factor IIH, polypeptide 1, 62kDa
HDAC3 histone deacetylase 3
IGF2R insulin-like growth factor 2 receptor
IGFALS insulin-like growth factor binding protein, acid labile subunit
IL10 interleukin 10
IL13 interleukin 13
IRF2BPL interferon regulatory factor 2 binding protein-like
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
LMNA lamin A/C
MAK16 MAK16 homolog (S. cerevisiae)
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NOP56 NOP56 ribonucleoprotein
NUFIP2 nuclear fragile X mental retardation protein interacting protein 2
NUP62 nucleoporin 62kDa
PLA2G1B phospholipase A2, group IB (pancreas)
PLA2G2A phospholipase A2, group IIA (platelets, synovial fluid)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLB1 phospholipase B1
PNO1 partner of NOB1 homolog (S. cerevisiae)
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PSEN1 presenilin 1
PTBP1 polypyrimidine tract binding protein 1
PTTG1 pituitary tumor-transforming 1
RAD23A RAD23 homolog A (S. cerevisiae)
RAD23B RAD23 homolog B (S. cerevisiae)
RAN RAN, member RAS oncogene family
RBMS3 RNA binding motif, single stranded interacting protein 3
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3
SOD1 superoxide dismutase 1, soluble
SQSTM1 sequestosome 1
SRRM2 serine/arginine repetitive matrix 2
TARDBP TAR DNA binding protein
TK2 thymidine kinase 2, mitochondrial
TRA2A transformer 2 alpha homolog (Drosophila)
UBQLN2 ubiquilin 2
UBR4 ubiquitin protein ligase E3 component n-recognin 4
VIM vimentin
YWHAZ tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta