Disease: Absent reflex
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PNPLA2 Q96AD5 patatin like phospholipase domain containing 2 Enzyme 4.1E-03 0.511 0.846
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
POMK Q9H5K3 protein O-mannose kinase Kinase 1.9E-08 0.590 0.500
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
PRPS1 P60891 phosphoribosyl pyrophosphate synthetase 1 Kinase 0.92 0.584 0.731
PRX Q9BXM0 periaxin 2.1E-14 0.650 0.577
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SCN9A Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 4.8E-19 0.543 0.615
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846
SLC12A6 Q9UHW9 solute carrier family 12 member 6 Transporter 1.1E-02 0.603 0.500
SLC18A3 Q16572 solute carrier family 18 member A3 Transporter 0.45 0.608 0.654
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
SLC5A7 Q9GZV3 solute carrier family 5 member 7 Transporter 1.5E-02 0.597 0.654
SNAP25 P60880 synaptosome associated protein 25 Transporter 0.99 0.489 0.808
SPEG Q15772 striated muscle enriched protein kinase Kinase 0.92 0.686 0.385
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
SYT2 Q8N9I0 synaptotagmin 2 Transporter 0.98 0.647 0.538
TPM2 P07951 tropomyosin 2 Cellular structure 2.4E-04 0.530 0.654
TPM3 P06753 tropomyosin 3 Cellular structure 6.7E-03 0.490 0.808
TRIP4 Q15650 thyroid hormone receptor interactor 4 Transcription factor 6.0E-07 0.641 0.654
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
VAMP1 P23763 vesicle associated membrane protein 1 3.9E-03 0.628 0.538