Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
AP3B2 Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 0.77 0.691 0.346
ASH1L Q9NR48 ASH1 like histone lysine methyltransferase 1.00 0.623 0.577
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
B4GALT1 P15291 beta-1,4-galactosyltransferase 1 Enzyme 3.7E-02 0.674 0.538
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
C12orf65 Q9H3J6 chromosome 12 open reading frame 65 Nucleic acid binding 0.21 0.678 0.346
CCDC47 Q96A33 coiled-coil domain containing 47 6.1E-08 0.678 0.462
CHRNE Q04844 cholinergic receptor nicotinic epsilon subunit Ion channel 4.7E-09 0.636 0.577
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
DCC P43146 DCC netrin 1 receptor 0.99 0.471 0.808
DOCK3 Q8IZD9 dedicator of cytokinesis 3 1.00 0.619 0.692
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
ELP1 O95163 elongator complex protein 1 Enzyme modulator 2.1E-21 0.579 0.769
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
FOXP1 Q9H334 forkhead box P1 1.00 0.460 0.808
GABRB1 P18505 gamma-aminobutyric acid type A receptor subunit beta1 Ion channel 0.98 0.686 0.500
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
GATAD2B Q8WXI9 GATA zinc finger domain containing 2B Nucleic acid binding 1.00 0.593 0.654
GRID2 O43424 glutamate ionotropic receptor delta type subunit 2 Ion channel 1.00 0.670 0.500
GRIK2 Q13002 glutamate ionotropic receptor kainate type subunit 2 Ion channel 1.00 0.561 0.769