Pontocerebellar Hypoplasia Gene Set
Genes
22 genes associated with the disease Pontocerebellar Hypoplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
| Symbol |
Name |
|
AMPD2
|
adenosine monophosphate deaminase 2
|
|
CLP1
|
cleavage and polyadenylation factor I subunit 1
|
|
COASY
|
CoA synthase
|
|
COL11A1
|
collagen, type XI, alpha 1
|
|
CRYGD
|
crystallin, gamma D
|
|
EXOSC3
|
exosome component 3
|
|
EXOSC8
|
exosome component 8
|
|
EXOSC9
|
exosome component 9
|
|
MTDH
|
metadherin
|
|
PCCA
|
propionyl CoA carboxylase, alpha polypeptide
|
|
PCCB
|
propionyl CoA carboxylase, beta polypeptide
|
|
PCLO
|
piccolo presynaptic cytomatrix protein
|
|
SEPSECS
|
Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
|
|
SULT2A1
|
sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1
|
|
TBC1D23
|
TBC1 domain family, member 23
|
|
TP53
|
tumor protein p53
|
|
TSEN15
|
TSEN15 tRNA splicing endonuclease subunit
|
|
TSEN54
|
TSEN54 tRNA splicing endonuclease subunit
|
|
VIM
|
vimentin
|
|
VPS53
|
vacuolar protein sorting 53 homolog (S. cerevisiae)
|
|
VRK1
|
vaccinia related kinase 1
|
|
ZAP70
|
zeta-chain (TCR) associated protein kinase 70kDa
|
