Disease: Cerebellar Ataxia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACHE P22303 acetylcholinesterase (Cartwright blood group) Enzyme 1.00 0.445 0.885
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ANO10 Q9NW15 anoctamin 10 1.0E-14 0.663 0.500
AQP4 P55087 aquaporin 4 Ion channel 2.3E-03 0.456 0.885
CBLL2 Q8N7E2 Cbl proto-oncogene like 2 Enzyme 0.476 0.808
DLG4 P78352 discs large MAGUK scaffold protein 4 Receptor 1.00 0.595 0.654
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
GH1 P01241 growth hormone 1 Signaling 3.0E-02 0.373 0.923
GJB2 P29033 gap junction protein beta 2 Cell-cell junction 6.6E-16 0.441 0.846
GJB6 O95452 gap junction protein beta 6 Cell-cell junction 1.7E-07 0.528 0.808
GLB1 P16278 galactosidase beta 1 Enzyme 7.9E-10 0.448 0.808
GOSR2 O14653 golgi SNAP receptor complex member 2 Transporter 4.7E-07 0.653 0.423
ITPR1 Q14643 inositol 1,4,5-trisphosphate receptor type 1 Ion channel 1.00 0.534 0.846
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
LAMA2 P24043 laminin subunit alpha 2 Enzyme modulator 2.4E-47 0.553 0.692
LMNB1 P20700 lamin B1 0.55 0.564 0.731
MMP10 P09238 matrix metallopeptidase 10 Enzyme 5.9E-15 0.553 0.808
MSTO1 Q9BUK6 misato mitochondrial distribution and morphology regulator 1 1.6E-09 0.582 0.692
MUL1 Q969V5 mitochondrial E3 ubiquitin protein ligase 1 1.9E-06 0.473 0.808
NPC1 O15118 NPC intracellular cholesterol transporter 1 Transporter 6.5E-06 0.518 0.692
PARP1 P09874 poly(ADP-ribose) polymerase 1 3.3E-04 0.389 0.923
PKN1 Q16512 protein kinase N1 Kinase 0.20 0.647 0.692
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PNKP Q96T60 polynucleotide kinase 3'-phosphatase 3.7E-14 0.553 0.692
PRKN O60260 parkin RBR E3 ubiquitin protein ligase Enzyme 6.9E-07 0.431 0.846