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
ADGRG6 Q86SQ4 adhesion G protein-coupled receptor G6 G-protein coupled receptor 6.6E-05 0.666 0.385
ASCC1 Q8N9N2 activating signal cointegrator 1 complex subunit 1 2.6E-14 0.495 0.846
CEP55 Q53EZ4 centrosomal protein 55 2.0E-12 0.534 0.731
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
CHRNG P07510 cholinergic receptor nicotinic gamma subunit Ion channel 3.3E-19 0.573 0.692
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
DOK7 Q18PE1 docking protein 7 1.0E-04 0.615 0.615
GLDN Q6ZMI3 gliomedin 2.6E-13 0.769 0.346
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
ITGA6 P23229 integrin subunit alpha 6 1.9E-07 0.539 0.769
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731
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
LMNA P02545 lamin A/C 1.00 0.384 0.885
LMOD3 Q0VAK6 leiomodin 3 Cellular structure 1.6E-07 0.700 0.423
MUSK O15146 muscle associated receptor tyrosine kinase Kinase 4.2E-08 0.570 0.769
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654
MYOD1 P15172 myogenic differentiation 1 Transcription factor 0.15 0.569 0.654
NEB P20929 nebulin 4.6E-41 0.608 0.692
NEK9 Q8TD19 NIMA related kinase 9 Kinase 8.2E-18 0.623 0.500
NUP88 Q99567 nucleoporin 88 Transporter 2.0E-08 0.659 0.577
PHGDH O43175 phosphoglycerate dehydrogenase Enzyme 1.3E-04 0.484 0.885
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769