Disease: Ophthalmoplegia
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
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
ATXN3 P54252 ataxin 3 Enzyme 0.11 0.521 0.808
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
CHAT P28329 choline O-acetyltransferase Enzyme 5.6E-11 0.520 0.808
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
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
COL13A1 Q5TAT6 collagen type XIII alpha 1 chain 3.7E-14 0.608 0.654
DNM1L O00429 dynamin 1 like Enzyme modulator 5.7E-04 0.475 0.808
FA2H Q7L5A8 fatty acid 2-hydroxylase Enzyme 0.15 0.573 0.654
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808
HGSNAT Q68CP4 heparan-alpha-glucosaminide N-acetyltransferase 6.3E-08 0.628 0.577
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
KCND3 Q9UK17 potassium voltage-gated channel subfamily D member 3 Ion channel 0.99 0.619 0.615
KLHL40 Q2TBA0 kelch like family member 40 3.5E-06 0.722 0.385
KLHL41 O60662 kelch like family member 41 1.1E-04 0.682 0.538
KLHL7 Q8IXQ5 kelch like family member 7 4.6E-05 0.581 0.731
LMOD3 Q0VAK6 leiomodin 3 Cellular structure 1.6E-07 0.700 0.423
LY6E Q16553 lymphocyte antigen 6 family member E 0.32 0.563 0.808
MGME1 Q9BQP7 mitochondrial genome maintenance exonuclease 1 1.8E-03 0.695 0.423
MYMK A6NI61 myomaker, myoblast fusion factor 1.8E-04 0.659 0.538
MYO9A B2RTY4 myosin IXA 0.49 0.647 0.500