Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRNS1 tRNA 0.555 0.808
TRNW tRNA 0.563 0.731
WHCR Wolf-Hirschhorn syndrome chromosome region 0.638 0.577
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808
CRPPA A4D126 CDP-L-ribitol pyrophosphorylase A 2.5E-04 0.566 0.654
CNOT1 A5YKK6 CCR4-NOT transcription complex subunit 1 Transcription factor 1.00 0.674 0.577
MYMK A6NI61 myomaker, myoblast fusion factor 1.8E-04 0.659 0.538
KIF2A O00139 kinesin family member 2A Cellular structure 1.00 0.590 0.731
NDUFS8 O00217 NADH:ubiquinone oxidoreductase core subunit S8 Enzyme 0.17 0.636 0.538
PSMD12 O00232 proteasome 26S subunit, non-ATPase 12 Enzyme modulator 1.00 0.578 0.808
DNM1L O00429 dynamin 1 like Enzyme modulator 5.7E-04 0.475 0.808
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
PEX12 O00623 peroxisomal biogenesis factor 12 Transporter 9.5E-16 0.601 0.615
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
AP3D1 O14617 adaptor related protein complex 3 subunit delta 1 Transporter 0.99 0.678 0.385
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CASK O14936 calcium/calmodulin dependent serine protein kinase Kinase 1.00 0.538 0.808
TECPR2 O15040 tectonin beta-propeller repeat containing 2 0.58 0.663 0.423
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
GNPAT O15228 glyceronephosphate O-acyltransferase 0.30 0.663 0.462
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
GRIN2D O15399 glutamate ionotropic receptor NMDA type subunit 2D Ion channel 1.00 0.650 0.538
RNF113A O15541 ring finger protein 113A Enzyme 0.89 0.597 0.769