Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
GALE Q14376 UDP-galactose-4-epimerase 1.5E-10 0.722 0.385
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846
UBE3B Q7Z3V4 ubiquitin protein ligase E3B 4.2E-08 0.590 0.692
UBE3A Q05086 ubiquitin protein ligase E3A 1.00 0.561 0.692
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
UQCRQ O14949 ubiquinol-cytochrome c reductase complex III subunit VII 4.8E-02 0.722 0.308
UQCC3 Q6UW78 ubiquinol-cytochrome c reductase complex assembly factor 3 3.2E-02 0.839 0.038
YWHAG P61981 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma Chaperone 0.96 0.621 0.500
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692
TUSC3 Q13454 tumor suppressor candidate 3 Transporter 3.5E-06 0.576 0.615
TBCE Q15813 tubulin folding cofactor E Chaperone 1.7E-08 0.575 0.692
TUBB2A Q13885 tubulin beta 2A class IIa Cellular structure 0.93 0.678 0.538
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769
TSFM P43897 Ts translation elongation factor, mitochondrial Nucleic acid binding 1.9E-09 0.736 0.423
WARS2 Q9UGM6 tryptophanyl tRNA synthetase 2, mitochondrial 5.1E-02 0.617 0.577
TSEN15 Q8WW01 tRNA splicing endonuclease subunit 15 0.28 0.769 0.115
TRNT1 Q96Q11 tRNA nucleotidyl transferase 1 1.6E-04 0.700 0.192
TRMT5 Q32P41 tRNA methyltransferase 5 Enzyme 5.0E-02 0.769 0.231
TRIT1 Q9H3H1 tRNA isopentenyltransferase 1 Enzyme 4.1E-11 0.621 0.692
TRNN tRNA 0.682 0.577
TRNS1 tRNA 0.555 0.808
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
TPI1 P60174 triosephosphate isomerase 1 Enzyme 3.0E-02 0.517 0.846
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
TMEM70 Q9BUB7 transmembrane protein 70 2.9E-02 0.636 0.654