Disease: Congenital pontocerebellar hypoplasia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769
AKT1 P31749 AKT serine/threonine kinase 1 Kinase 0.98 0.311 0.962
AMPD2 Q01433 adenosine monophosphate deaminase 2 Enzyme 4.5E-07 0.663 0.577
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CHMP1A Q9HD42 charged multivesicular body protein 1A 2.9E-04 0.695 0.500
CLAM cerebellar atrophy with progressive microcephaly 0.890 0.077
COASY Q13057 Coenzyme A synthase Enzyme 8.1E-10 0.551 0.654
DKC1 O60832 dyskerin pseudouridine synthase 1 Nucleic acid binding 1.00 0.547 0.769
EXOSC3 Q9NQT5 exosome component 3 Enzyme 2.4E-04 0.610 0.692
EXOSC8 Q96B26 exosome component 8 Enzyme 6.9E-15 0.736 0.269
ITGA2B P08514 integrin subunit alpha 2b 1.5E-16 0.493 0.692
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
KIF26B Q2KJY2 kinesin family member 26B Cellular structure 1.00 0.670 0.500
MPP6 Q9NZW5 membrane palmitoylated protein 6 Enzyme 0.82 0.821 0.077
PCLO Q9Y6V0 piccolo presynaptic cytomatrix protein 1.00 0.656 0.577
RARS2 Q5T160 arginyl-tRNA synthetase 2, mitochondrial 7.7E-14 0.663 0.462
RBM7 Q9Y580 RNA binding motif protein 7 Nucleic acid binding 0.65 0.821 0.115
SLC25A46 Q96AG3 solute carrier family 25 member 46 Transporter 1.3E-05 0.695 0.308
TBC1D23 Q9NUY8 TBC1 domain family member 23 1.8E-05 0.729 0.308
TOE1 Q96GM8 target of EGR1, exonuclease Nucleic acid binding 6.0E-16 0.682 0.462
TRIP13 Q15645 thyroid hormone receptor interactor 13 1.00 0.559 0.654
TSEN15 Q8WW01 tRNA splicing endonuclease subunit 15 0.28 0.769 0.115
TSEN34 Q9BSV6 tRNA splicing endonuclease subunit 34 Enzyme 0.36 0.722 0.346
TSEN54 Q7Z6J9 tRNA splicing endonuclease subunit 54 1.8E-07 0.659 0.500