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
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
ARFGEF2 Q9Y6D5 ADP ribosylation factor guanine nucleotide exchange factor 2 1.00 0.659 0.462
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
BRWD3 Q6RI45 bromodomain and WD repeat domain containing 3 1.00 0.716 0.538
BTD P43251 biotinidase Enzyme 1.5E-07 0.628 0.654
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DLG3 Q92796 discs large MAGUK scaffold protein 3 1.00 0.544 0.615
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
DNMT3A Q9Y6K1 DNA methyltransferase 3 alpha 7.4E-39 0.445 0.846
FARS2 O95363 phenylalanyl-tRNA synthetase 2, mitochondrial Enzyme 9.3E-09 0.615 0.731
FGF12 P61328 fibroblast growth factor 12 Signaling 0.62 0.619 0.615
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GABRB2 P47870 gamma-aminobutyric acid type A receptor subunit beta2 Ion channel 0.85 0.619 0.500
GABRB3 P28472 gamma-aminobutyric acid type A receptor subunit beta3 Ion channel 0.95 0.546 0.615
GNAO1 P09471 G protein subunit alpha o1 Enzyme modulator 0.99 0.523 0.808
GNB1 P62873 G protein subunit beta 1 Enzyme 1.00 0.617 0.731
GRIN1 Q05586 glutamate ionotropic receptor NMDA type subunit 1 Ion channel 0.98 0.561 0.692