Disease: Facial paralysis
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 0.808
TPM2 P07951 tropomyosin 2 Cellular structure 2.4E-04 0.530 0.654
TK2 O00142 thymidine kinase 2 Kinase 3.9E-07 0.585 0.615
SQSTM1 Q13501 sequestosome 1 8.6E-04 0.428 0.885
SLC52A2 Q9HAB3 solute carrier family 52 member 2 Transporter 2.5E-03 0.483 0.808
SLC18A3 Q16572 solute carrier family 18 member A3 Transporter 0.45 0.608 0.654
SELENON Q9NZV5 selenoprotein N 9.8E-10 0.575 0.692
SCN4A P35499 sodium voltage-gated channel alpha subunit 4 Ion channel 1.3E-02 0.554 0.731
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
RAPSN Q13702 receptor associated protein of the synapse 1.5E-03 0.593 0.731
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
POMC P01189 proopiomelanocortin 1.2E-04 0.356 0.846
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
NEB P20929 nebulin 4.6E-41 0.608 0.692
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769
MTM1 Q13496 myotubularin 1 Enzyme 1.00 0.573 0.731
MGME1 Q9BQP7 mitochondrial genome maintenance exonuclease 1 1.8E-03 0.695 0.423
MEGF10 Q96KG7 multiple EGF like domains 10 Extracellular structure 0.39 0.682 0.462
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
LRP4 O75096 LDL receptor related protein 4 1.4E-06 0.568 0.692
LMOD3 Q0VAK6 leiomodin 3 Cellular structure 1.6E-07 0.700 0.423
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654