Congenintal Pontocerebellar 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/C3554209
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Genes

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

Symbol Name
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
AMPD2 adenosine monophosphate deaminase 2
ATAD3A ATPase family, AAA domain containing 3A
BRCA2 breast cancer 2, early onset
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CHMP1A charged multivesicular body protein 1A
CLP1 cleavage and polyadenylation factor I subunit 1
COASY CoA synthase
DKC1 dyskeratosis congenita 1, dyskerin
EXOSC3 exosome component 3
EXOSC8 exosome component 8
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KIF26B kinesin family member 26B
MPP6 membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)
PCLO piccolo presynaptic cytomatrix protein
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RBM7 RNA binding motif protein 7
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SLC25A46 solute carrier family 25, member 46
TBC1D23 TBC1 domain family, member 23
TOE1 target of EGR1, member 1 (nuclear)
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
VLDLR very low density lipoprotein receptor
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1