Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACAD8 Q9UKU7 acyl-CoA dehydrogenase family member 8 Enzyme 5.6E-14 0.506 0.885
ACADS P16219 acyl-CoA dehydrogenase short chain 2.8E-06 0.663 0.538
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
ANTXR2 P58335 ANTXR cell adhesion molecule 2 Receptor 8.7E-02 0.568 0.808
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CENPT Q96BT3 centromere protein T 5.8E-06 0.821 0.231
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CLASP1 Q7Z460 cytoplasmic linker associated protein 1 Cellular structure 1.00 0.751 0.500
COG7 P83436 component of oligomeric golgi complex 7 2.6E-07 0.686 0.500
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
CRAT P43155 carnitine O-acetyltransferase Enzyme 9.5E-12 0.656 0.577
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
DGUOK Q16854 deoxyguanosine kinase Kinase 3.7E-07 0.593 0.500
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
EIF2B2 P49770 eukaryotic translation initiation factor 2B subunit beta 2.1E-10 0.647 0.538
EMD P50402 emerin 0.93 0.542 0.731
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FBXL4 Q9UKA2 F-box and leucine rich repeat protein 4 1.1E-08 0.695 0.423