Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ARHGEF2 Q92974 Rho/Rac guanine nucleotide exchange factor 2 1.00 0.502 0.769
ARSA P15289 arylsulfatase A Enzyme 1.1E-11 0.448 0.923
ATCAY Q86WG3 ATCAY kinesin light chain interacting caytaxin 0.62 0.805 0.192
ATN1 P54259 atrophin 1 1.00 0.409 0.885
ATP1A3 P13637 ATPase Na+/K+ transporting subunit alpha 3 Transporter 1.00 0.544 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
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385
COX20 Q5RI15 cytochrome c oxidase assembly factor COX20 2.0E-02 0.705 0.538
COX8A P10176 cytochrome c oxidase subunit 8A Enzyme 0.12 0.400 0.846
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
CTBP1 Q13363 C-terminal binding protein 1 Transcription factor 0.98 0.559 0.692
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769
CWF19L1 Q69YN2 CWF19 like cell cycle control factor 1 1.4E-15 0.691 0.346
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DLD P09622 dihydrolipoamide dehydrogenase Enzyme 9.5E-03 0.517 0.769