Disease: Proximal muscle weakness
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
SLC25A1 P53007 solute carrier family 25 member 1 Transporter 5.9E-02 0.553 0.731
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
VCP P55072 valosin containing protein 1.00 0.469 0.923
SNAP25 P60880 synaptosome associated protein 25 Transporter 0.99 0.489 0.808
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
STIM1 Q13586 stromal interaction molecule 1 0.78 0.501 0.808
FHL1 Q13642 four and a half LIM domains 1 0.97 0.532 0.731
SLC18A3 Q16572 solute carrier family 18 member A3 Transporter 0.45 0.608 0.654
SGCA Q16586 sarcoglycan alpha Calcium-binding protein 2.7E-03 0.592 0.654
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
ANO5 Q75V66 anoctamin 5 2.9E-22 0.619 0.538
MYH14 Q7Z406 myosin heavy chain 14 4.2E-02 0.663 0.577
SYT2 Q8N9I0 synaptotagmin 2 Transporter 0.98 0.647 0.538
MTMR14 Q8NCE2 myotubularin related protein 14 1.4E-07 0.674 0.615
SYNE1 Q8NF91 spectrin repeat containing nuclear envelope protein 1 3.2E-52 0.511 0.846
SYNE2 Q8WXH0 spectrin repeat containing nuclear envelope protein 2 1.7E-25 0.623 0.692
TTN Q8WZ42 titin Kinase 2.6E-96 0.470 0.885
ORAI1 Q96D31 ORAI calcium release-activated calcium modulator 1 Ion channel 1.9E-05 0.520 0.808
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692
TMEM43 Q9BTV4 transmembrane protein 43 1.2E-12 0.653 0.462
SLC5A7 Q9GZV3 solute carrier family 5 member 7 Transporter 1.5E-02 0.597 0.654
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731
MAP3K20 Q9NYL2 mitogen-activated protein kinase kinase kinase 20 Kinase 8.4E-09 0.564 0.769
SELENON Q9NZV5 selenoprotein N 9.8E-10 0.575 0.692
MYOT Q9UBF9 myotilin 3.4E-08 0.695 0.385