Pontocerebeller Hypoplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1843504
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Genes

20 genes associated with the disease Pontocerebeller Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AGTPBP1 ATP/GTP binding protein 1
ASXL3 additional sex combs like transcriptional regulator 3
CHMP1A charged multivesicular body protein 1A
DARS1 aspartyl-tRNA synthetase 1
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
EXOSC3 exosome component 3
EXOSC8 exosome component 8
EXOSC9 exosome component 9
KIF26B kinesin family member 26B
MKRN2OS MKRN2 opposite strand
RARS1 arginyl-tRNA synthetase 1
RARS2 arginyl-tRNA synthetase 2, mitochondrial
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TRIP13 thyroid hormone receptor interactor 13
TSEN15 TSEN15 tRNA splicing endonuclease subunit
TSEN2 TSEN2 tRNA splicing endonuclease subunit
TSEN34 TSEN34 tRNA splicing endonuclease subunit
TSEN54 TSEN54 tRNA splicing endonuclease subunit
VRK1 vaccinia related kinase 1