Disease: Arthrogryposis
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
AGRN O00468 agrin 5.5E-07 0.626 0.538
AR P10275 androgen receptor Nuclear receptor 0.99 0.351 0.846
CHRNA4 P43681 cholinergic receptor nicotinic alpha 4 subunit Ion channel 8.5E-05 0.492 0.808
CHST14 Q8NCH0 carbohydrate sulfotransferase 14 Enzyme 0.45 0.638 0.654
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
DOK7 Q18PE1 docking protein 7 1.0E-04 0.615 0.615
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
FBN2 P35556 fibrillin 2 Calcium-binding protein 1.00 0.505 0.808
GFPT1 Q06210 glutamine--fructose-6-phosphate transaminase 1 Enzyme 0.90 0.612 0.654
GLDN Q6ZMI3 gliomedin 2.6E-13 0.769 0.346
LMNA P02545 lamin A/C 1.00 0.384 0.885
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769
MYBPC1 Q00872 myosin binding protein C1 4.8E-05 0.666 0.462
MYH2 Q9UKX2 myosin heavy chain 2 3.7E-23 0.619 0.731
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
MYH8 P13535 myosin heavy chain 8 2.0E-51 0.682 0.385
MYPN Q86TC9 myopalladin 2.6E-06 0.612 0.615
NEB P20929 nebulin 4.6E-41 0.608 0.692
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769
PLF Pulmonary function 0.544 0.731
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SLC18A3 Q16572 solute carrier family 18 member A3 Transporter 0.45 0.608 0.654
SLC5A7 Q9GZV3 solute carrier family 5 member 7 Transporter 1.5E-02 0.597 0.654