Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ACY1 Q03154 aminoacylase 1 6.9E-09 0.653 0.577
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 0.615
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
ATXN10 Q9UBB4 ataxin 10 3.5E-04 0.650 0.385
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CLCN7 P51798 chloride voltage-gated channel 7 Ion channel 0.27 0.590 0.731
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
COG1 Q8WTW3 component of oligomeric golgi complex 1 4.9E-08 0.628 0.692
COG7 P83436 component of oligomeric golgi complex 7 2.6E-07 0.686 0.500
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385
COQ9 O75208 coenzyme Q9 5.5E-06 0.700 0.423
COX8A P10176 cytochrome c oxidase subunit 8A Enzyme 0.12 0.400 0.846