Disease: Neonatal Hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BIN1 O00499 bridging integrator 1 0.78 0.550 0.692
CFL2 Q9Y281 cofilin 2 6.4E-05 0.659 0.500
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
CHRNB1 P11230 cholinergic receptor nicotinic beta 1 subunit Ion channel 5.0E-08 0.700 0.462
CHRND Q07001 cholinergic receptor nicotinic delta subunit Ion channel 5.4E-09 0.641 0.462
CHRNE Q04844 cholinergic receptor nicotinic epsilon subunit Ion channel 4.7E-09 0.636 0.577
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
DLAT P10515 dihydrolipoamide S-acetyltransferase 2.3E-08 0.576 0.731
DNAJC19 Q96DA6 DnaJ heat shock protein family (Hsp40) member C19 6.1E-04 0.663 0.577
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
GLS O94925 glutaminase Enzyme 0.96 0.489 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692
NONO Q15233 non-POU domain containing octamer binding Nucleic acid binding 0.99 0.554 0.731
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
RAPSN Q13702 receptor associated protein of the synapse 1.5E-03 0.593 0.731
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
SELENON Q9NZV5 selenoprotein N 9.8E-10 0.575 0.692
TNNT1 P13805 troponin T1, slow skeletal type Cellular structure 7.0E-14 0.633 0.577
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654